Incidental Mutation 'R2191:Cr2'
| ID |
238076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cr2
|
| Ensembl Gene |
ENSMUSG00000026616 |
| Gene Name |
complement receptor 2 |
| Synonyms |
C3DR, CD21, Cr-1, Cr1, CD35, Cr-2 |
| MMRRC Submission |
040193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R2191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
195136811-195176716 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 195163381 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 465
(I465F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043104]
[ENSMUST00000082321]
[ENSMUST00000193356]
[ENSMUST00000193801]
[ENSMUST00000195120]
[ENSMUST00000210219]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043104
|
| SMART Domains |
Protein: ENSMUSP00000044261
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
2 |
58 |
5.04e-7 |
SMART |
|
CCP
|
63 |
120 |
3.58e-12 |
SMART |
|
CCP
|
125 |
191 |
1.2e-13 |
SMART |
|
CCP
|
197 |
252 |
2.73e-17 |
SMART |
|
CCP
|
256 |
311 |
1.01e-15 |
SMART |
|
Blast:CCP
|
316 |
347 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082321
AA Change: I89F
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000080938
Gene: ENSMUSG00000026616
AA Change: I89F
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
1.01e-11 |
SMART |
|
CCP
|
91 |
147 |
9.1e-14 |
SMART |
|
CCP
|
155 |
211 |
1.9e-16 |
SMART |
|
CCP
|
216 |
272 |
1.6e-9 |
SMART |
|
CCP
|
277 |
343 |
1.01e-11 |
SMART |
|
CCP
|
352 |
407 |
1.2e-13 |
SMART |
|
CCP
|
411 |
467 |
2.34e-16 |
SMART |
|
CCP
|
472 |
523 |
1.24e0 |
SMART |
|
CCP
|
528 |
594 |
4.48e-13 |
SMART |
|
CCP
|
603 |
658 |
1.95e-13 |
SMART |
|
CCP
|
718 |
778 |
1.75e-15 |
SMART |
|
CCP
|
787 |
842 |
2.06e-12 |
SMART |
|
CCP
|
850 |
906 |
7.92e-14 |
SMART |
|
CCP
|
911 |
967 |
1.29e-13 |
SMART |
|
transmembrane domain
|
975 |
997 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193356
|
| SMART Domains |
Protein: ENSMUSP00000141706
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
1 |
46 |
1.2e-1 |
SMART |
|
CCP
|
55 |
110 |
5.9e-16 |
SMART |
|
CCP
|
114 |
170 |
1.1e-18 |
SMART |
|
CCP
|
175 |
226 |
6.1e-3 |
SMART |
|
CCP
|
231 |
297 |
2.2e-15 |
SMART |
|
CCP
|
306 |
361 |
9.4e-16 |
SMART |
|
CCP
|
421 |
481 |
8.3e-18 |
SMART |
|
CCP
|
490 |
545 |
1e-14 |
SMART |
|
CCP
|
553 |
609 |
4e-16 |
SMART |
|
CCP
|
614 |
670 |
6.2e-16 |
SMART |
|
transmembrane domain
|
678 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193801
|
| SMART Domains |
Protein: ENSMUSP00000141276
Gene: ENSMUSG00000026616
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194149
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195120
AA Change: I89F
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141538
Gene: ENSMUSG00000026616
AA Change: I89F
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
23 |
82 |
4.9e-14 |
SMART |
|
CCP
|
91 |
147 |
4.5e-16 |
SMART |
|
CCP
|
155 |
211 |
9.1e-19 |
SMART |
|
CCP
|
216 |
272 |
8e-12 |
SMART |
|
CCP
|
277 |
343 |
5e-14 |
SMART |
|
CCP
|
352 |
407 |
5.9e-16 |
SMART |
|
CCP
|
411 |
467 |
1.1e-18 |
SMART |
|
CCP
|
472 |
523 |
6.1e-3 |
SMART |
|
CCP
|
528 |
594 |
2.2e-15 |
SMART |
|
CCP
|
603 |
658 |
9.4e-16 |
SMART |
|
CCP
|
718 |
778 |
8.3e-18 |
SMART |
|
CCP
|
787 |
842 |
1e-14 |
SMART |
|
CCP
|
850 |
906 |
4e-16 |
SMART |
|
CCP
|
911 |
967 |
6.2e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195347
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210219
AA Change: I465F
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,078,866 (GRCm38) |
S716P |
possibly damaging |
Het |
| Abcb5 |
A |
C |
12: 118,867,956 (GRCm38) |
N1220K |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,699,140 (GRCm38) |
E479D |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,171,802 (GRCm38) |
L736* |
probably null |
Het |
| Adcyap1 |
A |
G |
17: 93,200,026 (GRCm38) |
S5G |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,566,290 (GRCm38) |
N958S |
possibly damaging |
Het |
| Armc1 |
T |
A |
3: 19,134,061 (GRCm38) |
N274Y |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,753,051 (GRCm38) |
R926W |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,443,845 (GRCm38) |
Q1370K |
probably damaging |
Het |
| Ccdc129 |
A |
T |
6: 55,967,719 (GRCm38) |
Q475L |
probably benign |
Het |
| Cdip1 |
C |
T |
16: 4,770,063 (GRCm38) |
S12N |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 55,016,045 (GRCm38) |
I160F |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 95,761,426 (GRCm38) |
I534T |
probably damaging |
Het |
| Daw1 |
A |
G |
1: 83,192,663 (GRCm38) |
D232G |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,422,864 (GRCm38) |
T144A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 110,086,118 (GRCm38) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,605,875 (GRCm38) |
S1001P |
possibly damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,207,073 (GRCm38) |
T184A |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,409,618 (GRCm38) |
*1061Q |
probably null |
Het |
| Dvl1 |
G |
A |
4: 155,847,816 (GRCm38) |
V28I |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,796,883 (GRCm38) |
V450D |
probably damaging |
Het |
| Ephb6 |
G |
T |
6: 41,616,085 (GRCm38) |
R419L |
possibly damaging |
Het |
| Fbxo10 |
G |
C |
4: 45,044,811 (GRCm38) |
P608R |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,095,829 (GRCm38) |
I451T |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,168,871 (GRCm38) |
V161E |
possibly damaging |
Het |
| Gm884 |
A |
C |
11: 103,618,967 (GRCm38) |
|
probably benign |
Het |
| Heatr5b |
A |
G |
17: 78,773,677 (GRCm38) |
L1382P |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 49,783,150 (GRCm38) |
L714F |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 81,997,302 (GRCm38) |
P488S |
probably damaging |
Het |
| Ints6l |
T |
A |
X: 56,504,750 (GRCm38) |
H678Q |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,356,931 (GRCm38) |
|
probably null |
Het |
| Khdrbs3 |
G |
T |
15: 69,092,960 (GRCm38) |
V249F |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,861,049 (GRCm38) |
|
probably null |
Het |
| Laptm4a |
T |
C |
12: 8,922,296 (GRCm38) |
|
probably null |
Het |
| Lrp2bp |
C |
T |
8: 46,013,169 (GRCm38) |
T105I |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,185,261 (GRCm38) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,499,032 (GRCm38) |
W244R |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,818,615 (GRCm38) |
D138G |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 20,023,662 (GRCm38) |
I275L |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,118,720 (GRCm38) |
R719H |
probably benign |
Het |
| Olfr191 |
A |
T |
16: 59,085,675 (GRCm38) |
D269E |
probably benign |
Het |
| Olfr441 |
T |
C |
6: 43,116,065 (GRCm38) |
S108P |
probably benign |
Het |
| Olfr937 |
A |
T |
9: 39,060,405 (GRCm38) |
I87K |
probably benign |
Het |
| Omt2b |
G |
A |
9: 78,328,175 (GRCm38) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,713,848 (GRCm38) |
L4112F |
unknown |
Het |
| Pglyrp2 |
T |
C |
17: 32,415,957 (GRCm38) |
N477S |
probably benign |
Het |
| Phf20 |
T |
C |
2: 156,276,654 (GRCm38) |
V426A |
probably benign |
Het |
| Pla2g4e |
CTT |
CTTT |
2: 120,191,199 (GRCm38) |
|
probably null |
Het |
| Plagl1 |
A |
C |
10: 13,128,941 (GRCm38) |
|
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,744,110 (GRCm38) |
V479A |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,698,824 (GRCm38) |
T1021P |
probably damaging |
Het |
| Rdh7 |
C |
T |
10: 127,888,598 (GRCm38) |
V6I |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,759,614 (GRCm38) |
H237L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,579,907 (GRCm38) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,095,648 (GRCm38) |
|
probably null |
Het |
| Setd5 |
C |
T |
6: 113,111,429 (GRCm38) |
Q173* |
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,396,691 (GRCm38) |
Y918* |
probably null |
Het |
| Slc13a1 |
T |
G |
6: 24,134,397 (GRCm38) |
E162D |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,662,527 (GRCm38) |
A52T |
probably damaging |
Het |
| Srebf1 |
T |
C |
11: 60,220,539 (GRCm38) |
D2G |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 31,142,800 (GRCm38) |
M66K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 31,159,270 (GRCm38) |
N601S |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 75,124,088 (GRCm38) |
G545D |
probably damaging |
Het |
| Syt5 |
G |
A |
7: 4,543,089 (GRCm38) |
Q101* |
probably null |
Het |
| Thada |
A |
G |
17: 84,446,521 (GRCm38) |
F341L |
probably benign |
Het |
| Tln2 |
T |
G |
9: 67,355,221 (GRCm38) |
I585L |
probably damaging |
Het |
| Tmem67 |
C |
G |
4: 12,069,413 (GRCm38) |
|
probably null |
Het |
| Tonsl |
G |
T |
15: 76,632,680 (GRCm38) |
L917M |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,862,183 (GRCm38) |
K519E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,707,134 (GRCm38) |
T34817A |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,926,047 (GRCm38) |
S700T |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,245,566 (GRCm38) |
C1312* |
probably null |
Het |
| Usp36 |
A |
G |
11: 118,285,023 (GRCm38) |
L104P |
possibly damaging |
Het |
| Vmn1r216 |
T |
C |
13: 23,099,233 (GRCm38) |
F29L |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,502,885 (GRCm38) |
I196T |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,108,139 (GRCm38) |
F289L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,203,211 (GRCm38) |
|
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,794,843 (GRCm38) |
K258N |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,231,443 (GRCm38) |
H156R |
possibly damaging |
Het |
|
| Other mutations in Cr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Cr2
|
APN |
1 |
195,154,251 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL01326:Cr2
|
APN |
1 |
195,141,221 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL01358:Cr2
|
APN |
1 |
195,159,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01410:Cr2
|
APN |
1 |
195,163,234 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01468:Cr2
|
APN |
1 |
195,168,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01608:Cr2
|
APN |
1 |
195,155,220 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01810:Cr2
|
APN |
1 |
195,159,595 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01843:Cr2
|
APN |
1 |
195,150,914 (GRCm38) |
splice site |
probably benign |
|
|
IGL02332:Cr2
|
APN |
1 |
195,160,322 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02934:Cr2
|
APN |
1 |
195,154,325 (GRCm38) |
splice site |
probably benign |
|
|
IGL02938:Cr2
|
APN |
1 |
195,166,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Cr2
|
APN |
1 |
195,166,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03327:Cr2
|
APN |
1 |
195,169,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03346:Cr2
|
APN |
1 |
195,169,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Pillar
|
UTSW |
1 |
195,155,888 (GRCm38) |
nonsense |
probably null |
|
|
PIT4354001:Cr2
|
UTSW |
1 |
195,166,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Cr2
|
UTSW |
1 |
195,157,452 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0128:Cr2
|
UTSW |
1 |
195,166,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0130:Cr2
|
UTSW |
1 |
195,166,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0380:Cr2
|
UTSW |
1 |
195,157,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0538:Cr2
|
UTSW |
1 |
195,160,359 (GRCm38) |
splice site |
probably benign |
|
|
R0605:Cr2
|
UTSW |
1 |
195,163,596 (GRCm38) |
splice site |
probably benign |
|
|
R0626:Cr2
|
UTSW |
1 |
195,171,111 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1135:Cr2
|
UTSW |
1 |
195,157,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Cr2
|
UTSW |
1 |
195,169,253 (GRCm38) |
splice site |
probably null |
|
|
R1422:Cr2
|
UTSW |
1 |
195,171,125 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1467:Cr2
|
UTSW |
1 |
195,157,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Cr2
|
UTSW |
1 |
195,157,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1511:Cr2
|
UTSW |
1 |
195,155,272 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1572:Cr2
|
UTSW |
1 |
195,163,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1714:Cr2
|
UTSW |
1 |
195,151,686 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1748:Cr2
|
UTSW |
1 |
195,155,905 (GRCm38) |
nonsense |
probably null |
|
|
R1761:Cr2
|
UTSW |
1 |
195,155,123 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1824:Cr2
|
UTSW |
1 |
195,157,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1893:Cr2
|
UTSW |
1 |
195,155,187 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1990:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1991:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1992:Cr2
|
UTSW |
1 |
195,154,150 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2276:Cr2
|
UTSW |
1 |
195,157,368 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2277:Cr2
|
UTSW |
1 |
195,157,368 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3548:Cr2
|
UTSW |
1 |
195,155,888 (GRCm38) |
nonsense |
probably null |
|
|
R3743:Cr2
|
UTSW |
1 |
195,149,966 (GRCm38) |
splice site |
probably benign |
|
|
R3941:Cr2
|
UTSW |
1 |
195,165,814 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3963:Cr2
|
UTSW |
1 |
195,159,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4211:Cr2
|
UTSW |
1 |
195,156,328 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4484:Cr2
|
UTSW |
1 |
195,154,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4546:Cr2
|
UTSW |
1 |
195,171,041 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4791:Cr2
|
UTSW |
1 |
195,155,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4801:Cr2
|
UTSW |
1 |
195,163,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4802:Cr2
|
UTSW |
1 |
195,163,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4874:Cr2
|
UTSW |
1 |
195,176,570 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4885:Cr2
|
UTSW |
1 |
195,158,731 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4889:Cr2
|
UTSW |
1 |
195,176,585 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5154:Cr2
|
UTSW |
1 |
195,159,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5574:Cr2
|
UTSW |
1 |
195,141,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5594:Cr2
|
UTSW |
1 |
195,157,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Cr2
|
UTSW |
1 |
195,154,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5700:Cr2
|
UTSW |
1 |
195,159,757 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5929:Cr2
|
UTSW |
1 |
195,171,111 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6237:Cr2
|
UTSW |
1 |
195,157,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6299:Cr2
|
UTSW |
1 |
195,168,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6368:Cr2
|
UTSW |
1 |
195,168,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6406:Cr2
|
UTSW |
1 |
195,169,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6618:Cr2
|
UTSW |
1 |
195,157,379 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6684:Cr2
|
UTSW |
1 |
195,171,021 (GRCm38) |
nonsense |
probably null |
|
|
R6720:Cr2
|
UTSW |
1 |
195,155,200 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6866:Cr2
|
UTSW |
1 |
195,151,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6915:Cr2
|
UTSW |
1 |
195,171,146 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7057:Cr2
|
UTSW |
1 |
195,151,610 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7117:Cr2
|
UTSW |
1 |
195,160,601 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7200:Cr2
|
UTSW |
1 |
195,163,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7209:Cr2
|
UTSW |
1 |
195,168,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7350:Cr2
|
UTSW |
1 |
195,155,286 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7414:Cr2
|
UTSW |
1 |
195,150,036 (GRCm38) |
missense |
probably benign |
|
|
R7453:Cr2
|
UTSW |
1 |
195,165,257 (GRCm38) |
splice site |
probably null |
|
|
R7479:Cr2
|
UTSW |
1 |
195,158,410 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7480:Cr2
|
UTSW |
1 |
195,154,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7570:Cr2
|
UTSW |
1 |
195,169,340 (GRCm38) |
nonsense |
probably null |
|
|
R7666:Cr2
|
UTSW |
1 |
195,154,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7921:Cr2
|
UTSW |
1 |
195,151,667 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7923:Cr2
|
UTSW |
1 |
195,168,687 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8396:Cr2
|
UTSW |
1 |
195,158,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8503:Cr2
|
UTSW |
1 |
195,163,542 (GRCm38) |
missense |
probably benign |
|
|
R8517:Cr2
|
UTSW |
1 |
195,155,899 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8773:Cr2
|
UTSW |
1 |
195,158,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8849:Cr2
|
UTSW |
1 |
195,157,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8896:Cr2
|
UTSW |
1 |
195,169,273 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8938:Cr2
|
UTSW |
1 |
195,171,116 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9027:Cr2
|
UTSW |
1 |
195,151,721 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9045:Cr2
|
UTSW |
1 |
195,155,372 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9116:Cr2
|
UTSW |
1 |
195,158,669 (GRCm38) |
nonsense |
probably null |
|
|
R9137:Cr2
|
UTSW |
1 |
195,168,332 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9476:Cr2
|
UTSW |
1 |
195,158,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9497:Cr2
|
UTSW |
1 |
195,168,435 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9510:Cr2
|
UTSW |
1 |
195,158,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9752:Cr2
|
UTSW |
1 |
195,141,267 (GRCm38) |
missense |
probably benign |
0.37 |
|
R9799:Cr2
|
UTSW |
1 |
195,160,680 (GRCm38) |
missense |
probably benign |
0.02 |
|
X0028:Cr2
|
UTSW |
1 |
195,149,982 (GRCm38) |
missense |
probably benign |
0.09 |
|
X0066:Cr2
|
UTSW |
1 |
195,166,321 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Cr2
|
UTSW |
1 |
195,154,153 (GRCm38) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTACCACTCTCACAGACTGG -3'
(R):5'- CAGAGATTTCTTGTGACCCTCC -3'
Sequencing Primer
(F):5'- TCACAGACTGGCAGAGCTGTTG -3'
(R):5'- TCCTGAAGTCAAAAATGCTCGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation