Incidental Mutation 'R2095:Pcdhb17'
| ID |
232078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb17
|
| Ensembl Gene |
ENSMUSG00000046387 |
| Gene Name |
protocadherin beta 17 |
| Synonyms |
Pcdhb16, PcdhbQ |
| MMRRC Submission |
040099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2095 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37618040-37621345 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37619375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 388
(D388E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051442]
[ENSMUST00000053856]
[ENSMUST00000055949]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91VD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051442
|
| SMART Domains |
Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
46 |
132 |
7.7e-1 |
SMART |
|
CA
|
156 |
241 |
1.93e-17 |
SMART |
|
CA
|
265 |
346 |
4.2e-27 |
SMART |
|
CA
|
369 |
450 |
1.08e-24 |
SMART |
|
CA
|
474 |
560 |
3.31e-25 |
SMART |
|
CA
|
590 |
671 |
2.87e-11 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
770 |
4.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053856
AA Change: D388E
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: D388E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
31 |
112 |
5.8e-35 |
PFAM |
|
CA
|
155 |
240 |
2.42e-18 |
SMART |
|
CA
|
264 |
345 |
8.03e-24 |
SMART |
|
CA
|
368 |
449 |
5.81e-21 |
SMART |
|
CA
|
473 |
559 |
8.15e-25 |
SMART |
|
CA
|
589 |
670 |
6.34e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
686 |
770 |
1.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055949
|
| SMART Domains |
Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
30 |
112 |
3.1e-34 |
PFAM |
|
CA
|
155 |
240 |
7.97e-19 |
SMART |
|
CA
|
264 |
345 |
6.27e-26 |
SMART |
|
CA
|
368 |
449 |
2.63e-19 |
SMART |
|
CA
|
473 |
559 |
7.09e-25 |
SMART |
|
CA
|
589 |
670 |
2.87e-11 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
771 |
7.9e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
C |
A |
4: 122,596,151 (GRCm39) |
Y127* |
probably null |
Het |
| Adam33 |
C |
T |
2: 130,895,629 (GRCm39) |
G562D |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,988,557 (GRCm39) |
F177L |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,530,470 (GRCm39) |
T1439A |
probably damaging |
Het |
| Arl5c |
C |
T |
11: 97,884,277 (GRCm39) |
E105K |
probably damaging |
Het |
| Armc3 |
T |
A |
2: 19,293,740 (GRCm39) |
D510E |
possibly damaging |
Het |
| Bbx |
T |
C |
16: 50,045,052 (GRCm39) |
E395G |
possibly damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,404,364 (GRCm39) |
E1087K |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,043,529 (GRCm39) |
N113S |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 123,361,727 (GRCm39) |
S432P |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,377 (GRCm39) |
V140A |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,781 (GRCm39) |
D615G |
probably damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,744 (GRCm39) |
D190E |
probably benign |
Het |
| Clec9a |
T |
C |
6: 129,393,321 (GRCm39) |
L115P |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,552,550 (GRCm39) |
R532* |
probably null |
Het |
| Cntnap5a |
T |
A |
1: 116,369,990 (GRCm39) |
L869Q |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,305,944 (GRCm39) |
K143* |
probably null |
Het |
| Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
| Dtna |
T |
A |
18: 23,702,805 (GRCm39) |
L112Q |
probably damaging |
Het |
| Fnta |
G |
A |
8: 26,489,907 (GRCm39) |
Q303* |
probably null |
Het |
| Frs2 |
T |
C |
10: 116,910,507 (GRCm39) |
E285G |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,781,455 (GRCm39) |
I293V |
probably damaging |
Het |
| Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
| Gnl2 |
C |
T |
4: 124,928,111 (GRCm39) |
R49C |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,536,972 (GRCm39) |
Y275N |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,189,289 (GRCm39) |
E1231G |
probably damaging |
Het |
| Kctd11 |
T |
A |
11: 69,770,402 (GRCm39) |
D212V |
probably damaging |
Het |
| Klf3 |
T |
A |
5: 64,979,245 (GRCm39) |
M29K |
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,093,850 (GRCm39) |
S151P |
probably benign |
Het |
| Lsm14b |
A |
T |
2: 179,673,580 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,150,974 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
G |
A |
3: 104,708,847 (GRCm39) |
R389C |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,295,661 (GRCm39) |
M1071V |
possibly damaging |
Het |
| Myh8 |
G |
T |
11: 67,177,050 (GRCm39) |
A401S |
probably benign |
Het |
| Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,984,410 (GRCm39) |
|
probably null |
Het |
| Or1e22 |
T |
A |
11: 73,377,420 (GRCm39) |
T77S |
probably damaging |
Het |
| Or2l13 |
T |
C |
16: 19,305,681 (GRCm39) |
I31T |
probably benign |
Het |
| Or4c11c |
T |
C |
2: 88,661,634 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,557 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,438,394 (GRCm39) |
T423A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,154 (GRCm39) |
T91S |
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,007,546 (GRCm39) |
|
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,376 (GRCm39) |
L79P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,954,167 (GRCm39) |
T383A |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,071,764 (GRCm39) |
M2248K |
possibly damaging |
Het |
| Stub1 |
A |
G |
17: 26,049,864 (GRCm39) |
Y304H |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
| Tbc1d1 |
C |
T |
5: 64,473,844 (GRCm39) |
S660L |
probably benign |
Het |
| Tcea2 |
C |
A |
2: 181,328,725 (GRCm39) |
F259L |
probably damaging |
Het |
| Tcp11l1 |
T |
A |
2: 104,512,185 (GRCm39) |
K482N |
probably damaging |
Het |
| Trpv6 |
C |
T |
6: 41,598,690 (GRCm39) |
R645Q |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,748,125 (GRCm39) |
S30T |
probably benign |
Het |
| Ubap2 |
C |
G |
4: 41,206,901 (GRCm39) |
V492L |
possibly damaging |
Het |
| Ube3c |
T |
C |
5: 29,873,038 (GRCm39) |
F1026S |
probably damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,956,487 (GRCm39) |
D45A |
possibly damaging |
Het |
| Zfp738 |
G |
T |
13: 67,819,422 (GRCm39) |
L180I |
probably damaging |
Het |
|
| Other mutations in Pcdhb17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Pcdhb17
|
APN |
18 |
37,619,059 (GRCm39) |
splice site |
probably null |
|
|
IGL01367:Pcdhb17
|
APN |
18 |
37,620,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01923:Pcdhb17
|
APN |
18 |
37,619,790 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02060:Pcdhb17
|
APN |
18 |
37,619,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02494:Pcdhb17
|
APN |
18 |
37,618,347 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02654:Pcdhb17
|
APN |
18 |
37,619,614 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03168:Pcdhb17
|
APN |
18 |
37,618,825 (GRCm39) |
missense |
probably benign |
0.15 |
|
doughnut
|
UTSW |
18 |
37,619,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
miniscule
|
UTSW |
18 |
37,618,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4434001:Pcdhb17
|
UTSW |
18 |
37,618,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Pcdhb17
|
UTSW |
18 |
37,618,888 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1013:Pcdhb17
|
UTSW |
18 |
37,619,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:Pcdhb17
|
UTSW |
18 |
37,619,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1226:Pcdhb17
|
UTSW |
18 |
37,620,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1258:Pcdhb17
|
UTSW |
18 |
37,618,587 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1335:Pcdhb17
|
UTSW |
18 |
37,619,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Pcdhb17
|
UTSW |
18 |
37,619,701 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1451:Pcdhb17
|
UTSW |
18 |
37,619,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1505:Pcdhb17
|
UTSW |
18 |
37,619,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Pcdhb17
|
UTSW |
18 |
37,618,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Pcdhb17
|
UTSW |
18 |
37,619,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1750:Pcdhb17
|
UTSW |
18 |
37,620,070 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1750:Pcdhb17
|
UTSW |
18 |
37,618,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Pcdhb17
|
UTSW |
18 |
37,620,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Pcdhb17
|
UTSW |
18 |
37,619,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1888:Pcdhb17
|
UTSW |
18 |
37,620,438 (GRCm39) |
splice site |
probably null |
|
|
R1888:Pcdhb17
|
UTSW |
18 |
37,620,438 (GRCm39) |
splice site |
probably null |
|
|
R4565:Pcdhb17
|
UTSW |
18 |
37,619,523 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4658:Pcdhb17
|
UTSW |
18 |
37,619,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Pcdhb17
|
UTSW |
18 |
37,619,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Pcdhb17
|
UTSW |
18 |
37,620,450 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4910:Pcdhb17
|
UTSW |
18 |
37,618,212 (GRCm39) |
start codon destroyed |
possibly damaging |
0.90 |
|
R5209:Pcdhb17
|
UTSW |
18 |
37,620,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5248:Pcdhb17
|
UTSW |
18 |
37,618,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5254:Pcdhb17
|
UTSW |
18 |
37,619,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5494:Pcdhb17
|
UTSW |
18 |
37,620,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5544:Pcdhb17
|
UTSW |
18 |
37,620,474 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5952:Pcdhb17
|
UTSW |
18 |
37,620,133 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5977:Pcdhb17
|
UTSW |
18 |
37,618,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6262:Pcdhb17
|
UTSW |
18 |
37,619,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6311:Pcdhb17
|
UTSW |
18 |
37,619,316 (GRCm39) |
splice site |
probably null |
|
|
R6495:Pcdhb17
|
UTSW |
18 |
37,618,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6710:Pcdhb17
|
UTSW |
18 |
37,618,452 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7097:Pcdhb17
|
UTSW |
18 |
37,619,566 (GRCm39) |
missense |
probably benign |
|
|
R7122:Pcdhb17
|
UTSW |
18 |
37,619,566 (GRCm39) |
missense |
probably benign |
|
|
R7130:Pcdhb17
|
UTSW |
18 |
37,618,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:Pcdhb17
|
UTSW |
18 |
37,619,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7642:Pcdhb17
|
UTSW |
18 |
37,618,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7703:Pcdhb17
|
UTSW |
18 |
37,619,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7771:Pcdhb17
|
UTSW |
18 |
37,619,962 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7898:Pcdhb17
|
UTSW |
18 |
37,618,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8028:Pcdhb17
|
UTSW |
18 |
37,620,502 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8299:Pcdhb17
|
UTSW |
18 |
37,618,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8560:Pcdhb17
|
UTSW |
18 |
37,619,206 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8844:Pcdhb17
|
UTSW |
18 |
37,618,801 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8925:Pcdhb17
|
UTSW |
18 |
37,620,372 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8927:Pcdhb17
|
UTSW |
18 |
37,620,372 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9050:Pcdhb17
|
UTSW |
18 |
37,620,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9162:Pcdhb17
|
UTSW |
18 |
37,620,168 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9243:Pcdhb17
|
UTSW |
18 |
37,619,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Pcdhb17
|
UTSW |
18 |
37,619,422 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9472:Pcdhb17
|
UTSW |
18 |
37,618,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Pcdhb17
|
UTSW |
18 |
37,618,218 (GRCm39) |
missense |
probably benign |
|
|
R9625:Pcdhb17
|
UTSW |
18 |
37,619,419 (GRCm39) |
nonsense |
probably null |
|
|
R9646:Pcdhb17
|
UTSW |
18 |
37,618,471 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
X0062:Pcdhb17
|
UTSW |
18 |
37,619,542 (GRCm39) |
missense |
probably benign |
|
|
X0064:Pcdhb17
|
UTSW |
18 |
37,619,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACGCTGTTACTGAAGGTG -3'
(R):5'- ACTGATGGTGCCTATGTGC -3'
Sequencing Primer
(F):5'- TGGTGGACGTGAATGACAATGC -3'
(R):5'- GCCTATGTGCATGGCGG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation