Incidental Mutation 'R1766:Sorbs2'
| ID |
194374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sorbs2
|
| Ensembl Gene |
ENSMUSG00000031626 |
| Gene Name |
sorbin and SH3 domain containing 2 |
| Synonyms |
2010203O03Rik, 9430041O17Rik |
| MMRRC Submission |
039798-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1766 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
45960825-46280943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46223613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 222
(Y222C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067065]
[ENSMUST00000067107]
[ENSMUST00000124544]
[ENSMUST00000125295]
[ENSMUST00000130011]
[ENSMUST00000132139]
[ENSMUST00000171337]
[ENSMUST00000135336]
[ENSMUST00000143820]
[ENSMUST00000153798]
[ENSMUST00000141039]
[ENSMUST00000134675]
[ENSMUST00000211095]
[ENSMUST00000139869]
[ENSMUST00000138049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067065
AA Change: Y6C
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070720
Gene: ENSMUSG00000031626
AA Change: Y6C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
630 |
N/A |
INTRINSIC |
|
SH3
|
845 |
900 |
5.1e-23 |
SMART |
|
low complexity region
|
901 |
916 |
N/A |
INTRINSIC |
|
SH3
|
920 |
977 |
3.9e-19 |
SMART |
|
SH3
|
1023 |
1079 |
2.48e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067107
AA Change: Y222C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067641
Gene: ENSMUSG00000031626
AA Change: Y222C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
167 |
217 |
9.63e-34 |
SMART |
|
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
746 |
N/A |
INTRINSIC |
|
SH3
|
962 |
1017 |
5.1e-23 |
SMART |
|
low complexity region
|
1018 |
1033 |
N/A |
INTRINSIC |
|
SH3
|
1037 |
1094 |
3.9e-19 |
SMART |
|
SH3
|
1140 |
1196 |
2.48e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124544
AA Change: Y168C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125295
AA Change: Y61C
|
| SMART Domains |
Protein: ENSMUSP00000116768
Gene: ENSMUSG00000031626
AA Change: Y61C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
6 |
56 |
9.63e-34 |
SMART |
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
685 |
N/A |
INTRINSIC |
|
SH3
|
900 |
955 |
5.1e-23 |
SMART |
|
low complexity region
|
956 |
971 |
N/A |
INTRINSIC |
|
SH3
|
975 |
1032 |
3.9e-19 |
SMART |
|
SH3
|
1078 |
1134 |
2.48e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130011
|
| SMART Domains |
Protein: ENSMUSP00000121619
Gene: ENSMUSG00000031626
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
113 |
163 |
1.01e-27 |
SMART |
|
low complexity region
|
195 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
283 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
383 |
N/A |
INTRINSIC |
|
SH3
|
418 |
473 |
5.1e-23 |
SMART |
|
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
|
SH3
|
493 |
550 |
3.9e-19 |
SMART |
|
SH3
|
596 |
652 |
2.48e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132139
AA Change: Y199C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123250
Gene: ENSMUSG00000031626
AA Change: Y199C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
144 |
194 |
9.63e-34 |
SMART |
|
low complexity region
|
241 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
448 |
N/A |
INTRINSIC |
|
SH3
|
483 |
538 |
5.1e-23 |
SMART |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
SH3
|
558 |
615 |
3.9e-19 |
SMART |
|
SH3
|
636 |
707 |
2.16e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171337
AA Change: Y222C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128000
Gene: ENSMUSG00000031626
AA Change: Y222C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
167 |
217 |
9.63e-34 |
SMART |
|
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
765 |
N/A |
INTRINSIC |
|
SH3
|
980 |
1035 |
5.1e-23 |
SMART |
|
low complexity region
|
1036 |
1051 |
N/A |
INTRINSIC |
|
SH3
|
1055 |
1112 |
3.9e-19 |
SMART |
|
SH3
|
1158 |
1214 |
2.48e-12 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155858
AA Change: Y7C
|
| SMART Domains |
Protein: ENSMUSP00000122820
Gene: ENSMUSG00000031626
AA Change: Y7C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135336
AA Change: Y222C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114286
Gene: ENSMUSG00000031626
AA Change: Y222C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
167 |
217 |
9.63e-34 |
SMART |
|
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
746 |
N/A |
INTRINSIC |
|
SH3
|
962 |
1017 |
5.1e-23 |
SMART |
|
low complexity region
|
1018 |
1033 |
N/A |
INTRINSIC |
|
SH3
|
1037 |
1094 |
3.9e-19 |
SMART |
|
SH3
|
1140 |
1196 |
2.48e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143820
AA Change: Y168C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119539
Gene: ENSMUSG00000031626
AA Change: Y168C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
113 |
163 |
9.63e-34 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153798
AA Change: Y191C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118353
Gene: ENSMUSG00000031626
AA Change: Y191C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
136 |
186 |
9.63e-34 |
SMART |
|
low complexity region
|
233 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
368 |
N/A |
INTRINSIC |
|
SH3
|
403 |
458 |
5.1e-23 |
SMART |
|
low complexity region
|
459 |
474 |
N/A |
INTRINSIC |
|
SH3
|
478 |
535 |
3.9e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141039
AA Change: Y199C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117544
Gene: ENSMUSG00000031626
AA Change: Y199C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
144 |
194 |
9.63e-34 |
SMART |
|
low complexity region
|
241 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134675
AA Change: Y199C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118160
Gene: ENSMUSG00000031626
AA Change: Y199C
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
144 |
194 |
9.63e-34 |
SMART |
|
low complexity region
|
241 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140088
|
| SMART Domains |
Protein: ENSMUSP00000114158
Gene: ENSMUSG00000031626
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
2 |
25 |
9.17e-1 |
SMART |
|
low complexity region
|
57 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139869
|
| SMART Domains |
Protein: ENSMUSP00000121235
Gene: ENSMUSG00000031626
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
136 |
186 |
1.01e-27 |
SMART |
|
low complexity region
|
218 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
353 |
N/A |
INTRINSIC |
|
SH3
|
389 |
444 |
5.1e-23 |
SMART |
|
low complexity region
|
445 |
460 |
N/A |
INTRINSIC |
|
SH3
|
464 |
521 |
3.9e-19 |
SMART |
|
SH3
|
567 |
623 |
2.48e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138049
|
| SMART Domains |
Protein: ENSMUSP00000123503
Gene: ENSMUSG00000031626
| Domain | Start | End | E-Value | Type |
|---|
|
Sorb
|
167 |
217 |
1.01e-27 |
SMART |
|
low complexity region
|
249 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, reduced dendritic complexity, decreased excitatory synaptic transmission in dentate gyrus granule cells, a reduced acoustic startle response, and impaired long-term object recognition memory and contextual fear memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
T |
C |
10: 42,330,491 (GRCm39) |
T59A |
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,412,656 (GRCm39) |
M1223L |
possibly damaging |
Het |
| Ankrd24 |
G |
A |
10: 81,474,472 (GRCm39) |
S68N |
probably benign |
Het |
| Arhgap31 |
A |
G |
16: 38,445,952 (GRCm39) |
I131T |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,029,836 (GRCm39) |
I874F |
probably damaging |
Het |
| Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
| BC051665 |
G |
A |
13: 60,932,854 (GRCm39) |
H36Y |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,392 (GRCm39) |
D69G |
probably damaging |
Het |
| Chd6 |
G |
A |
2: 160,808,559 (GRCm39) |
L1552F |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,556,191 (GRCm39) |
H584R |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,343,179 (GRCm39) |
V1508I |
possibly damaging |
Het |
| Dpy19l4 |
C |
T |
4: 11,303,360 (GRCm39) |
G187D |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,015,526 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
G |
19: 5,766,434 (GRCm39) |
V1303A |
probably damaging |
Het |
| Eif4e1b |
G |
A |
13: 54,934,704 (GRCm39) |
E182K |
probably damaging |
Het |
| Fam170b |
A |
T |
14: 32,557,843 (GRCm39) |
Q226L |
possibly damaging |
Het |
| Fam193a |
C |
T |
5: 34,619,475 (GRCm39) |
P760L |
probably damaging |
Het |
| Gabra5 |
A |
T |
7: 57,157,796 (GRCm39) |
L6H |
probably benign |
Het |
| Gabrq |
G |
A |
X: 71,876,989 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm7334 |
T |
A |
17: 51,006,006 (GRCm39) |
D97E |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,215,395 (GRCm39) |
A286T |
probably damaging |
Het |
| Gsta4 |
C |
A |
9: 78,111,611 (GRCm39) |
Y79* |
probably null |
Het |
| Hcn1 |
T |
A |
13: 117,793,270 (GRCm39) |
V174D |
probably benign |
Het |
| Hic1 |
G |
T |
11: 75,056,620 (GRCm39) |
C756* |
probably null |
Het |
| Hivep3 |
C |
T |
4: 119,953,868 (GRCm39) |
T728I |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,752,561 (GRCm39) |
E1175G |
possibly damaging |
Het |
| Igsf3 |
T |
A |
3: 101,338,598 (GRCm39) |
L304Q |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,551,235 (GRCm39) |
D90G |
probably benign |
Het |
| Krt73 |
C |
T |
15: 101,702,363 (GRCm39) |
G500D |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,535,119 (GRCm39) |
K156E |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,531,927 (GRCm39) |
K94E |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,918,060 (GRCm39) |
S26P |
probably damaging |
Het |
| Myh4 |
C |
A |
11: 67,147,121 (GRCm39) |
Q1589K |
possibly damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,076,113 (GRCm39) |
V671E |
probably benign |
Het |
| Nop9 |
C |
T |
14: 55,989,591 (GRCm39) |
A407V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,323,474 (GRCm39) |
H1366L |
probably damaging |
Het |
| Ntrk1 |
A |
T |
3: 87,685,825 (GRCm39) |
C766S |
probably damaging |
Het |
| Oog3 |
C |
T |
4: 143,885,692 (GRCm39) |
G302D |
possibly damaging |
Het |
| Or4q3 |
T |
C |
14: 50,583,677 (GRCm39) |
Y43C |
probably damaging |
Het |
| Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
| Or6c38 |
T |
C |
10: 128,929,616 (GRCm39) |
I76V |
probably benign |
Het |
| Or7g27 |
A |
G |
9: 19,250,154 (GRCm39) |
T133A |
probably benign |
Het |
| Pdzph1 |
C |
T |
17: 59,280,747 (GRCm39) |
V512I |
probably benign |
Het |
| Phf2 |
A |
C |
13: 48,973,033 (GRCm39) |
S408A |
unknown |
Het |
| Pigk |
T |
G |
3: 152,445,793 (GRCm39) |
L135V |
probably damaging |
Het |
| Ppp2ca |
C |
A |
11: 52,012,773 (GRCm39) |
T301N |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,024,741 (GRCm39) |
S253P |
probably damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,957,438 (GRCm39) |
I712N |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,000,010 (GRCm39) |
D579E |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,325,976 (GRCm39) |
D769E |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,615,887 (GRCm39) |
C134S |
probably damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
| Scube1 |
T |
A |
15: 83,606,146 (GRCm39) |
D42V |
probably damaging |
Het |
| Sh3glb1 |
T |
C |
3: 144,418,446 (GRCm39) |
D39G |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,689 (GRCm39) |
T397A |
probably benign |
Het |
| Siglece |
G |
A |
7: 43,300,956 (GRCm39) |
T453M |
probably damaging |
Het |
| Slc26a1 |
G |
A |
5: 108,819,658 (GRCm39) |
R514W |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,685,093 (GRCm39) |
V156A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,698,374 (GRCm39) |
V1134E |
probably damaging |
Het |
| Sorcs3 |
G |
T |
19: 48,592,314 (GRCm39) |
W326C |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,150,782 (GRCm39) |
Y22H |
probably benign |
Het |
| Tiparp |
A |
T |
3: 65,439,470 (GRCm39) |
H80L |
probably damaging |
Het |
| Tmem71 |
T |
A |
15: 66,413,548 (GRCm39) |
T175S |
probably benign |
Het |
| Tmem87b |
T |
A |
2: 128,681,090 (GRCm39) |
V338D |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,240,004 (GRCm39) |
K445R |
probably damaging |
Het |
| Trim14 |
A |
G |
4: 46,522,039 (GRCm39) |
F213L |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,768 (GRCm39) |
S550T |
probably benign |
Het |
| Tufm |
A |
G |
7: 126,089,644 (GRCm39) |
D446G |
probably benign |
Het |
| Vipr1 |
A |
T |
9: 121,490,485 (GRCm39) |
Y177F |
possibly damaging |
Het |
| Vmn2r116 |
A |
C |
17: 23,620,740 (GRCm39) |
I825L |
probably damaging |
Het |
| Vmn2r12 |
G |
T |
5: 109,239,910 (GRCm39) |
Q218K |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,242,919 (GRCm39) |
|
probably null |
Het |
| Ywhae |
T |
C |
11: 75,646,491 (GRCm39) |
V119A |
probably damaging |
Het |
| Zfand5 |
A |
G |
19: 21,257,888 (GRCm39) |
R199G |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
| Zrsr2-ps1 |
A |
G |
11: 22,923,637 (GRCm39) |
D137G |
probably benign |
Het |
|
| Other mutations in Sorbs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Sorbs2
|
APN |
8 |
46,252,743 (GRCm39) |
splice site |
probably null |
|
|
IGL00964:Sorbs2
|
APN |
8 |
46,248,714 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01101:Sorbs2
|
APN |
8 |
46,198,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01586:Sorbs2
|
APN |
8 |
46,248,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01611:Sorbs2
|
APN |
8 |
46,248,381 (GRCm39) |
missense |
probably null |
|
|
IGL01662:Sorbs2
|
APN |
8 |
46,256,866 (GRCm39) |
splice site |
probably benign |
|
|
IGL01970:Sorbs2
|
APN |
8 |
46,198,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02169:Sorbs2
|
APN |
8 |
46,276,786 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02685:Sorbs2
|
APN |
8 |
46,256,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03036:Sorbs2
|
APN |
8 |
46,235,902 (GRCm39) |
missense |
probably benign |
|
|
IGL03151:Sorbs2
|
APN |
8 |
46,252,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03164:Sorbs2
|
APN |
8 |
46,235,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03350:Sorbs2
|
APN |
8 |
46,258,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB001:Sorbs2
|
UTSW |
8 |
46,248,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Sorbs2
|
UTSW |
8 |
46,248,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Sorbs2
|
UTSW |
8 |
46,249,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Sorbs2
|
UTSW |
8 |
46,238,291 (GRCm39) |
splice site |
probably null |
|
|
R0233:Sorbs2
|
UTSW |
8 |
46,222,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Sorbs2
|
UTSW |
8 |
46,222,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Sorbs2
|
UTSW |
8 |
46,238,374 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Sorbs2
|
UTSW |
8 |
46,248,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0308:Sorbs2
|
UTSW |
8 |
46,248,167 (GRCm39) |
nonsense |
probably null |
|
|
R0638:Sorbs2
|
UTSW |
8 |
46,249,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0940:Sorbs2
|
UTSW |
8 |
46,249,539 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1110:Sorbs2
|
UTSW |
8 |
46,248,767 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1160:Sorbs2
|
UTSW |
8 |
46,223,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1226:Sorbs2
|
UTSW |
8 |
46,248,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1271:Sorbs2
|
UTSW |
8 |
46,249,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Sorbs2
|
UTSW |
8 |
46,243,000 (GRCm39) |
splice site |
probably benign |
|
|
R1514:Sorbs2
|
UTSW |
8 |
46,222,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Sorbs2
|
UTSW |
8 |
46,212,234 (GRCm39) |
splice site |
probably benign |
|
|
R1582:Sorbs2
|
UTSW |
8 |
46,258,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1626:Sorbs2
|
UTSW |
8 |
46,222,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Sorbs2
|
UTSW |
8 |
46,254,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Sorbs2
|
UTSW |
8 |
46,216,056 (GRCm39) |
makesense |
probably null |
|
|
R1782:Sorbs2
|
UTSW |
8 |
46,258,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Sorbs2
|
UTSW |
8 |
46,249,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1954:Sorbs2
|
UTSW |
8 |
46,198,775 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2060:Sorbs2
|
UTSW |
8 |
46,228,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Sorbs2
|
UTSW |
8 |
46,248,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2568:Sorbs2
|
UTSW |
8 |
46,248,407 (GRCm39) |
nonsense |
probably null |
|
|
R3812:Sorbs2
|
UTSW |
8 |
46,216,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3831:Sorbs2
|
UTSW |
8 |
46,248,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Sorbs2
|
UTSW |
8 |
46,225,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4033:Sorbs2
|
UTSW |
8 |
46,228,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Sorbs2
|
UTSW |
8 |
46,248,330 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4828:Sorbs2
|
UTSW |
8 |
46,194,652 (GRCm39) |
intron |
probably benign |
|
|
R4926:Sorbs2
|
UTSW |
8 |
46,249,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5027:Sorbs2
|
UTSW |
8 |
46,199,571 (GRCm39) |
splice site |
probably null |
|
|
R5118:Sorbs2
|
UTSW |
8 |
46,248,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:Sorbs2
|
UTSW |
8 |
46,248,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5342:Sorbs2
|
UTSW |
8 |
46,249,050 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5390:Sorbs2
|
UTSW |
8 |
46,272,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Sorbs2
|
UTSW |
8 |
46,249,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Sorbs2
|
UTSW |
8 |
46,194,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5687:Sorbs2
|
UTSW |
8 |
46,228,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Sorbs2
|
UTSW |
8 |
46,245,912 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5733:Sorbs2
|
UTSW |
8 |
46,212,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Sorbs2
|
UTSW |
8 |
46,216,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Sorbs2
|
UTSW |
8 |
46,222,934 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6341:Sorbs2
|
UTSW |
8 |
46,223,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Sorbs2
|
UTSW |
8 |
46,249,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6761:Sorbs2
|
UTSW |
8 |
46,225,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Sorbs2
|
UTSW |
8 |
46,248,860 (GRCm39) |
nonsense |
probably null |
|
|
R7404:Sorbs2
|
UTSW |
8 |
46,212,233 (GRCm39) |
splice site |
probably null |
|
|
R7524:Sorbs2
|
UTSW |
8 |
46,248,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7809:Sorbs2
|
UTSW |
8 |
46,198,465 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7820:Sorbs2
|
UTSW |
8 |
46,249,593 (GRCm39) |
missense |
probably null |
0.16 |
|
R7924:Sorbs2
|
UTSW |
8 |
46,248,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8285:Sorbs2
|
UTSW |
8 |
46,249,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8696:Sorbs2
|
UTSW |
8 |
46,248,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8927:Sorbs2
|
UTSW |
8 |
46,248,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Sorbs2
|
UTSW |
8 |
46,248,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Sorbs2
|
UTSW |
8 |
46,248,774 (GRCm39) |
missense |
probably benign |
|
|
R9006:Sorbs2
|
UTSW |
8 |
46,258,858 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9016:Sorbs2
|
UTSW |
8 |
46,248,774 (GRCm39) |
missense |
probably benign |
|
|
R9017:Sorbs2
|
UTSW |
8 |
46,248,774 (GRCm39) |
missense |
probably benign |
|
|
R9091:Sorbs2
|
UTSW |
8 |
46,248,774 (GRCm39) |
missense |
probably benign |
|
|
R9196:Sorbs2
|
UTSW |
8 |
46,258,864 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9256:Sorbs2
|
UTSW |
8 |
46,248,774 (GRCm39) |
missense |
probably benign |
|
|
R9282:Sorbs2
|
UTSW |
8 |
46,248,774 (GRCm39) |
missense |
probably benign |
|
|
R9283:Sorbs2
|
UTSW |
8 |
46,248,774 (GRCm39) |
missense |
probably benign |
|
|
R9384:Sorbs2
|
UTSW |
8 |
46,258,864 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9624:Sorbs2
|
UTSW |
8 |
46,228,690 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9664:Sorbs2
|
UTSW |
8 |
46,276,788 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Sorbs2
|
UTSW |
8 |
46,243,062 (GRCm39) |
missense |
probably null |
0.96 |
|
Z1177:Sorbs2
|
UTSW |
8 |
46,235,996 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATGTGTGACAAGGGTCGCAAG -3'
(R):5'- ACAGTGTGGCAGAACATTCCTGAAG -3'
Sequencing Primer
(F):5'- TATAGAAAAGATCGCTCTGCCCAG -3'
(R):5'- CACAGAGAGGTGTTAGTTCCCAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation