Incidental Mutation 'R1661:Cttnbp2'
| ID |
186734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cttnbp2
|
| Ensembl Gene |
ENSMUSG00000000416 |
| Gene Name |
cortactin binding protein 2 |
| Synonyms |
ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik |
| MMRRC Submission |
039697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1661 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
18366477-18514842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18434982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 292
(I292K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090601]
[ENSMUST00000129669]
[ENSMUST00000148602]
|
| AlphaFold |
B9EJA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090601
AA Change: I292K
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: I292K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
Pfam:CortBP2
|
32 |
138 |
3.1e-34 |
PFAM |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
ANK
|
699 |
729 |
5.21e1 |
SMART |
|
ANK
|
733 |
762 |
7.02e-5 |
SMART |
|
ANK
|
766 |
795 |
6.55e-5 |
SMART |
|
ANK
|
799 |
828 |
4.1e-6 |
SMART |
|
ANK
|
832 |
861 |
1.09e-1 |
SMART |
|
ANK
|
901 |
931 |
4.43e-2 |
SMART |
|
Blast:AAA
|
1108 |
1285 |
1e-18 |
BLAST |
|
low complexity region
|
1609 |
1623 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129669
|
| SMART Domains |
Protein: ENSMUSP00000116878
Gene: ENSMUSG00000000416
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
1 |
100 |
4.6e-44 |
PFAM |
|
Pfam:CortBP2
|
92 |
138 |
3.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146775
|
| SMART Domains |
Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
138 |
N/A |
INTRINSIC |
|
ANK
|
190 |
220 |
5.21e1 |
SMART |
|
ANK
|
224 |
253 |
7.02e-5 |
SMART |
|
ANK
|
257 |
286 |
6.55e-5 |
SMART |
|
ANK
|
290 |
319 |
4.1e-6 |
SMART |
|
ANK
|
323 |
352 |
1.09e-1 |
SMART |
|
ANK
|
392 |
422 |
4.43e-2 |
SMART |
|
Blast:AAA
|
599 |
776 |
1e-18 |
BLAST |
|
low complexity region
|
1100 |
1114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148602
AA Change: I292K
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
AA Change: I292K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
26 |
138 |
4.3e-50 |
PFAM |
|
Pfam:CortBP2
|
134 |
180 |
1.3e-12 |
PFAM |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202396
|
| Meta Mutation Damage Score |
0.0640 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,596,816 (GRCm39) |
G423E |
probably damaging |
Het |
| Acox3 |
A |
T |
5: 35,760,371 (GRCm39) |
H429L |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,857,604 (GRCm39) |
Q895K |
possibly damaging |
Het |
| Ajm1 |
T |
C |
2: 25,469,167 (GRCm39) |
D248G |
possibly damaging |
Het |
| Amotl2 |
T |
A |
9: 102,607,295 (GRCm39) |
I701N |
probably damaging |
Het |
| Angel2 |
T |
C |
1: 190,669,664 (GRCm39) |
Y115H |
probably damaging |
Het |
| Appbp2 |
T |
C |
11: 85,100,936 (GRCm39) |
|
probably null |
Het |
| Arhgap33 |
A |
C |
7: 30,231,748 (GRCm39) |
C113W |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,718 (GRCm39) |
N188S |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,635 (GRCm39) |
I798V |
possibly damaging |
Het |
| Caml |
C |
A |
13: 55,779,784 (GRCm39) |
L286I |
probably benign |
Het |
| Ccdc125 |
A |
G |
13: 100,830,081 (GRCm39) |
I284V |
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,117,105 (GRCm39) |
T236A |
possibly damaging |
Het |
| Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
| Cog2 |
T |
C |
8: 125,269,629 (GRCm39) |
F390L |
probably benign |
Het |
| Creg2 |
C |
T |
1: 39,662,372 (GRCm39) |
W253* |
probably null |
Het |
| Ddb1 |
A |
T |
19: 10,606,444 (GRCm39) |
Y1114F |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,101,761 (GRCm39) |
E1921G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,622,791 (GRCm39) |
F3494L |
probably damaging |
Het |
| F7 |
A |
G |
8: 13,085,209 (GRCm39) |
I412V |
probably benign |
Het |
| Fam222b |
A |
G |
11: 78,045,987 (GRCm39) |
Y388C |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,504,878 (GRCm39) |
|
probably null |
Het |
| Fbxo32 |
A |
C |
15: 58,054,865 (GRCm39) |
V156G |
probably damaging |
Het |
| Fem1b |
C |
T |
9: 62,704,556 (GRCm39) |
V235I |
probably damaging |
Het |
| Fnip2 |
A |
G |
3: 79,422,456 (GRCm39) |
F108S |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,746,768 (GRCm39) |
S613C |
probably damaging |
Het |
| Garin1a |
G |
C |
6: 29,285,937 (GRCm39) |
R132P |
probably damaging |
Het |
| Gm7276 |
C |
A |
18: 77,273,266 (GRCm39) |
|
probably benign |
Het |
| Gnb4 |
A |
C |
3: 32,644,188 (GRCm39) |
L152* |
probably null |
Het |
| Hsd17b4 |
G |
A |
18: 50,293,282 (GRCm39) |
E274K |
probably benign |
Het |
| Htr4 |
T |
C |
18: 62,545,305 (GRCm39) |
I30T |
probably damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,317,246 (GRCm39) |
L542P |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,577,973 (GRCm39) |
Y512F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,459,858 (GRCm39) |
N2051D |
probably benign |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Klhl22 |
C |
A |
16: 17,594,352 (GRCm39) |
D160E |
probably benign |
Het |
| Kpna6 |
T |
A |
4: 129,551,264 (GRCm39) |
R80S |
probably benign |
Het |
| Lclat1 |
A |
G |
17: 73,494,999 (GRCm39) |
E142G |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,833,570 (GRCm39) |
Y349H |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
A |
13: 99,568,437 (GRCm39) |
N1428I |
unknown |
Het |
| Map3k19 |
T |
A |
1: 127,745,393 (GRCm39) |
T1354S |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,887,813 (GRCm39) |
W1696R |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,063,272 (GRCm39) |
T2543A |
probably damaging |
Het |
| Mfn1 |
T |
G |
3: 32,588,471 (GRCm39) |
V66G |
probably benign |
Het |
| Muc15 |
C |
T |
2: 110,564,243 (GRCm39) |
Q260* |
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,300,718 (GRCm39) |
H616R |
probably damaging |
Het |
| Nnmt |
A |
G |
9: 48,516,174 (GRCm39) |
S29P |
probably benign |
Het |
| Nrde2 |
A |
T |
12: 100,116,119 (GRCm39) |
S122T |
probably benign |
Het |
| Or10a2 |
T |
C |
7: 106,673,481 (GRCm39) |
S149P |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,116 (GRCm39) |
C189R |
probably damaging |
Het |
| Or7g33 |
C |
T |
9: 19,448,624 (GRCm39) |
V201I |
probably benign |
Het |
| Pced1b |
A |
G |
15: 97,282,594 (GRCm39) |
H211R |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,424,938 (GRCm39) |
S1622T |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,117,702 (GRCm39) |
D26G |
probably damaging |
Het |
| Phf11a |
A |
T |
14: 59,518,237 (GRCm39) |
L170H |
probably damaging |
Het |
| Ppil6 |
A |
G |
10: 41,390,176 (GRCm39) |
D307G |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,137,254 (GRCm39) |
D6G |
possibly damaging |
Het |
| Psmd12 |
A |
T |
11: 107,382,732 (GRCm39) |
K212N |
probably damaging |
Het |
| Rc3h1 |
T |
A |
1: 160,786,993 (GRCm39) |
V796E |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,409,326 (GRCm39) |
Y503C |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,801,163 (GRCm39) |
I860N |
probably damaging |
Het |
| Saal1 |
A |
T |
7: 46,342,224 (GRCm39) |
N406K |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,266,759 (GRCm39) |
Y277N |
probably damaging |
Het |
| Slitrk1 |
A |
T |
14: 109,149,359 (GRCm39) |
Y451N |
probably damaging |
Het |
| Smad1 |
T |
C |
8: 80,098,658 (GRCm39) |
E52G |
probably damaging |
Het |
| Smarcd1 |
A |
T |
15: 99,605,519 (GRCm39) |
|
probably null |
Het |
| Smc3 |
A |
G |
19: 53,613,496 (GRCm39) |
D403G |
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,328,476 (GRCm39) |
W201R |
probably damaging |
Het |
| Syt2 |
C |
A |
1: 134,675,358 (GRCm39) |
A403D |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,623,860 (GRCm39) |
S2030N |
possibly damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,713,897 (GRCm39) |
S225R |
probably benign |
Het |
| Thap3 |
C |
T |
4: 152,070,161 (GRCm39) |
V78M |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,869,792 (GRCm39) |
K446R |
probably benign |
Het |
| Timmdc1 |
A |
C |
16: 38,331,079 (GRCm39) |
|
probably null |
Het |
| Tmem126b |
G |
T |
7: 90,125,179 (GRCm39) |
A2E |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,301,887 (GRCm39) |
R584W |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,446 (GRCm39) |
I281N |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 112,205,994 (GRCm39) |
F553S |
probably damaging |
Het |
| Wnt5a |
T |
C |
14: 28,240,300 (GRCm39) |
M150T |
probably benign |
Het |
| Zfp53 |
A |
G |
17: 21,729,766 (GRCm39) |
T600A |
probably damaging |
Het |
|
| Other mutations in Cttnbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00954:Cttnbp2
|
APN |
6 |
18,381,061 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01014:Cttnbp2
|
APN |
6 |
18,423,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01148:Cttnbp2
|
APN |
6 |
18,382,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01903:Cttnbp2
|
APN |
6 |
18,501,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01906:Cttnbp2
|
APN |
6 |
18,378,375 (GRCm39) |
nonsense |
probably null |
|
|
IGL01994:Cttnbp2
|
APN |
6 |
18,420,814 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02212:Cttnbp2
|
APN |
6 |
18,382,748 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02696:Cttnbp2
|
APN |
6 |
18,434,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02813:Cttnbp2
|
APN |
6 |
18,367,537 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02864:Cttnbp2
|
APN |
6 |
18,374,548 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03309:Cttnbp2
|
APN |
6 |
18,381,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Feelers
|
UTSW |
6 |
18,405,278 (GRCm39) |
splice site |
probably null |
|
|
warning
|
UTSW |
6 |
18,375,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Cttnbp2
|
UTSW |
6 |
18,367,457 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4449:Cttnbp2
|
UTSW |
6 |
18,367,461 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4548:Cttnbp2
|
UTSW |
6 |
18,367,462 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4589:Cttnbp2
|
UTSW |
6 |
18,367,457 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Cttnbp2
|
UTSW |
6 |
18,367,466 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4976:Cttnbp2
|
UTSW |
6 |
18,367,460 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0165:Cttnbp2
|
UTSW |
6 |
18,435,409 (GRCm39) |
nonsense |
probably null |
|
|
R0382:Cttnbp2
|
UTSW |
6 |
18,435,342 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0464:Cttnbp2
|
UTSW |
6 |
18,408,690 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0550:Cttnbp2
|
UTSW |
6 |
18,435,308 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0571:Cttnbp2
|
UTSW |
6 |
18,381,102 (GRCm39) |
missense |
probably benign |
|
|
R0627:Cttnbp2
|
UTSW |
6 |
18,367,372 (GRCm39) |
makesense |
probably null |
|
|
R0788:Cttnbp2
|
UTSW |
6 |
18,423,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Cttnbp2
|
UTSW |
6 |
18,405,177 (GRCm39) |
splice site |
probably benign |
|
|
R1319:Cttnbp2
|
UTSW |
6 |
18,434,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1476:Cttnbp2
|
UTSW |
6 |
18,434,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Cttnbp2
|
UTSW |
6 |
18,375,974 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1596:Cttnbp2
|
UTSW |
6 |
18,408,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Cttnbp2
|
UTSW |
6 |
18,435,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Cttnbp2
|
UTSW |
6 |
18,435,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Cttnbp2
|
UTSW |
6 |
18,408,656 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1665:Cttnbp2
|
UTSW |
6 |
18,434,982 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1834:Cttnbp2
|
UTSW |
6 |
18,501,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Cttnbp2
|
UTSW |
6 |
18,408,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1855:Cttnbp2
|
UTSW |
6 |
18,378,412 (GRCm39) |
missense |
probably benign |
|
|
R2018:Cttnbp2
|
UTSW |
6 |
18,434,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Cttnbp2
|
UTSW |
6 |
18,426,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2175:Cttnbp2
|
UTSW |
6 |
18,434,828 (GRCm39) |
splice site |
probably null |
|
|
R2202:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2203:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2204:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2205:Cttnbp2
|
UTSW |
6 |
18,408,693 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2371:Cttnbp2
|
UTSW |
6 |
18,380,603 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2416:Cttnbp2
|
UTSW |
6 |
18,448,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3414:Cttnbp2
|
UTSW |
6 |
18,389,204 (GRCm39) |
missense |
probably benign |
|
|
R3617:Cttnbp2
|
UTSW |
6 |
18,414,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Cttnbp2
|
UTSW |
6 |
18,423,832 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3862:Cttnbp2
|
UTSW |
6 |
18,434,905 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3940:Cttnbp2
|
UTSW |
6 |
18,420,974 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3941:Cttnbp2
|
UTSW |
6 |
18,427,452 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4097:Cttnbp2
|
UTSW |
6 |
18,420,871 (GRCm39) |
missense |
probably benign |
|
|
R4211:Cttnbp2
|
UTSW |
6 |
18,427,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Cttnbp2
|
UTSW |
6 |
18,514,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4367:Cttnbp2
|
UTSW |
6 |
18,405,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4652:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4660:Cttnbp2
|
UTSW |
6 |
18,406,536 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4975:Cttnbp2
|
UTSW |
6 |
18,406,525 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5064:Cttnbp2
|
UTSW |
6 |
18,448,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5205:Cttnbp2
|
UTSW |
6 |
18,427,432 (GRCm39) |
splice site |
probably benign |
|
|
R5305:Cttnbp2
|
UTSW |
6 |
18,381,097 (GRCm39) |
missense |
probably benign |
|
|
R5484:Cttnbp2
|
UTSW |
6 |
18,427,689 (GRCm39) |
intron |
probably benign |
|
|
R5629:Cttnbp2
|
UTSW |
6 |
18,405,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Cttnbp2
|
UTSW |
6 |
18,414,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5766:Cttnbp2
|
UTSW |
6 |
18,381,032 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5942:Cttnbp2
|
UTSW |
6 |
18,448,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Cttnbp2
|
UTSW |
6 |
18,448,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6073:Cttnbp2
|
UTSW |
6 |
18,434,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Cttnbp2
|
UTSW |
6 |
18,434,950 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6545:Cttnbp2
|
UTSW |
6 |
18,405,278 (GRCm39) |
splice site |
probably null |
|
|
R6858:Cttnbp2
|
UTSW |
6 |
18,448,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Cttnbp2
|
UTSW |
6 |
18,435,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Cttnbp2
|
UTSW |
6 |
18,448,446 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7141:Cttnbp2
|
UTSW |
6 |
18,380,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7353:Cttnbp2
|
UTSW |
6 |
18,375,943 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7465:Cttnbp2
|
UTSW |
6 |
18,501,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7500:Cttnbp2
|
UTSW |
6 |
18,378,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7534:Cttnbp2
|
UTSW |
6 |
18,420,764 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7646:Cttnbp2
|
UTSW |
6 |
18,375,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Cttnbp2
|
UTSW |
6 |
18,382,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Cttnbp2
|
UTSW |
6 |
18,514,734 (GRCm39) |
start codon destroyed |
possibly damaging |
0.82 |
|
R7809:Cttnbp2
|
UTSW |
6 |
18,434,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7816:Cttnbp2
|
UTSW |
6 |
18,448,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7932:Cttnbp2
|
UTSW |
6 |
18,427,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8011:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8014:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8015:Cttnbp2
|
UTSW |
6 |
18,426,092 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8095:Cttnbp2
|
UTSW |
6 |
18,435,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Cttnbp2
|
UTSW |
6 |
18,434,037 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8769:Cttnbp2
|
UTSW |
6 |
18,376,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Cttnbp2
|
UTSW |
6 |
18,375,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8886:Cttnbp2
|
UTSW |
6 |
18,414,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8921:Cttnbp2
|
UTSW |
6 |
18,434,877 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8931:Cttnbp2
|
UTSW |
6 |
18,434,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8956:Cttnbp2
|
UTSW |
6 |
18,434,165 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9005:Cttnbp2
|
UTSW |
6 |
18,434,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:Cttnbp2
|
UTSW |
6 |
18,429,138 (GRCm39) |
nonsense |
probably null |
|
|
R9194:Cttnbp2
|
UTSW |
6 |
18,434,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9425:Cttnbp2
|
UTSW |
6 |
18,423,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Cttnbp2
|
UTSW |
6 |
18,427,467 (GRCm39) |
nonsense |
probably null |
|
|
R9563:Cttnbp2
|
UTSW |
6 |
18,367,382 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9661:Cttnbp2
|
UTSW |
6 |
18,429,151 (GRCm39) |
missense |
|
|
|
R9763:Cttnbp2
|
UTSW |
6 |
18,435,240 (GRCm39) |
missense |
probably benign |
|
|
R9790:Cttnbp2
|
UTSW |
6 |
18,376,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9791:Cttnbp2
|
UTSW |
6 |
18,376,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,408,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,408,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,501,959 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Cttnbp2
|
UTSW |
6 |
18,420,835 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACTGTGGGAAGACTGCCTATC -3'
(R):5'- TGTAAGCAGCTCTCGGGCAAAG -3'
Sequencing Primer
(F):5'- TACCTGGTCTAATCAGCAGGG -3'
(R):5'- TCTCCGAGTTTGACACGGAAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation