Incidental Mutation 'R7812:Pcdhb13'
| ID |
601262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb13
|
| Ensembl Gene |
ENSMUSG00000047307 |
| Gene Name |
protocadherin beta 13 |
| Synonyms |
PcdhbM, Pcdbh6 |
| MMRRC Submission |
045867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R7812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37575645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 8
(C8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000056915]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055495
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
53 |
130 |
1.67e-1 |
SMART |
|
CA
|
154 |
239 |
3.69e-23 |
SMART |
|
CA
|
263 |
343 |
6.56e-29 |
SMART |
|
CA
|
366 |
447 |
5.9e-22 |
SMART |
|
CA
|
471 |
557 |
4.24e-23 |
SMART |
|
CA
|
587 |
668 |
1.01e-11 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-26 |
PFAM |
|
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056915
AA Change: C8S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: C8S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
58 |
130 |
5.5e-1 |
SMART |
|
CA
|
154 |
239 |
8.55e-19 |
SMART |
|
CA
|
263 |
343 |
3.36e-26 |
SMART |
|
CA
|
366 |
447 |
2.24e-22 |
SMART |
|
CA
|
471 |
557 |
1.08e-24 |
SMART |
|
CA
|
587 |
668 |
1.25e-11 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
2.4e-23 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,165,141 (GRCm39) |
C411F |
probably damaging |
Het |
| Abhd17c |
G |
T |
7: 83,800,624 (GRCm39) |
Y143* |
probably null |
Het |
| Acad11 |
T |
G |
9: 103,972,747 (GRCm39) |
L480R |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,890,476 (GRCm39) |
N277K |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,342,938 (GRCm39) |
Y268C |
probably damaging |
Het |
| Adm2 |
A |
T |
15: 89,208,367 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ambra1 |
A |
T |
2: 91,596,911 (GRCm39) |
M1L |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,742,161 (GRCm39) |
N465S |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,879,290 (GRCm39) |
I820M |
unknown |
Het |
| Atf7ip |
G |
A |
6: 136,580,415 (GRCm39) |
R1113Q |
probably damaging |
Het |
| Atp5pb |
A |
G |
3: 105,851,157 (GRCm39) |
V180A |
probably benign |
Het |
| Auts2 |
C |
T |
5: 131,501,284 (GRCm39) |
R43H |
|
Het |
| Cacna1g |
A |
T |
11: 94,334,880 (GRCm39) |
I809N |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,053,864 (GRCm39) |
M158K |
probably benign |
Het |
| Cars1 |
T |
A |
7: 143,123,784 (GRCm39) |
I500F |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,328,699 (GRCm39) |
M706K |
probably benign |
Het |
| Ccdc180 |
G |
A |
4: 45,906,952 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
G |
8: 93,984,938 (GRCm39) |
V463A |
probably benign |
Het |
| Cndp1 |
G |
T |
18: 84,655,994 (GRCm39) |
D58E |
probably benign |
Het |
| Csnk2b |
A |
T |
17: 35,339,431 (GRCm39) |
F21Y |
probably benign |
Het |
| Dgkg |
C |
G |
16: 22,385,165 (GRCm39) |
R447T |
probably damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,242,905 (GRCm39) |
D141G |
probably benign |
Het |
| Edar |
A |
G |
10: 58,465,926 (GRCm39) |
V4A |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,802,998 (GRCm39) |
D117G |
probably damaging |
Het |
| Fam124b |
T |
C |
1: 80,191,351 (GRCm39) |
T11A |
probably damaging |
Het |
| Fgl2 |
C |
A |
5: 21,577,896 (GRCm39) |
T61K |
probably benign |
Het |
| Furin |
T |
C |
7: 80,045,722 (GRCm39) |
N218S |
possibly damaging |
Het |
| Gcn1 |
T |
A |
5: 115,731,751 (GRCm39) |
H955Q |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,117,069 (GRCm39) |
I784T |
probably damaging |
Het |
| Ice1 |
T |
A |
13: 70,751,124 (GRCm39) |
Q1654L |
possibly damaging |
Het |
| Klhl28 |
T |
C |
12: 64,990,363 (GRCm39) |
N526S |
possibly damaging |
Het |
| Ldlrad4 |
C |
A |
18: 68,239,742 (GRCm39) |
P54Q |
probably benign |
Het |
| Lsm14a |
A |
G |
7: 34,088,301 (GRCm39) |
|
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,062,115 (GRCm39) |
V438A |
probably benign |
Het |
| Mrto4 |
A |
G |
4: 139,075,278 (GRCm39) |
V175A |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,246,921 (GRCm39) |
S2149A |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,002,430 (GRCm39) |
Y8H |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,746,380 (GRCm39) |
F225L |
probably benign |
Het |
| Or1j12 |
T |
A |
2: 36,343,290 (GRCm39) |
I231N |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,737 (GRCm39) |
M135L |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,894 (GRCm39) |
L147P |
possibly damaging |
Het |
| Oxr1 |
T |
A |
15: 41,615,138 (GRCm39) |
M1K |
probably null |
Het |
| Pbx3 |
T |
C |
2: 34,114,478 (GRCm39) |
Y152C |
probably damaging |
Het |
| Polr1c |
G |
A |
17: 46,557,053 (GRCm39) |
R77W |
probably damaging |
Het |
| Psg25 |
A |
T |
7: 18,255,093 (GRCm39) |
N474K |
possibly damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,766,413 (GRCm39) |
M838L |
possibly damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,303,224 (GRCm39) |
T799A |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 110,049,170 (GRCm39) |
V265I |
possibly damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,692 (GRCm39) |
G381R |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,027,735 (GRCm39) |
Q114R |
probably benign |
Het |
| Sipa1l2 |
A |
C |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,594,449 (GRCm39) |
I300F |
probably damaging |
Het |
| Sox7 |
C |
T |
14: 64,185,681 (GRCm39) |
T239I |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
G |
T |
11: 116,659,927 (GRCm39) |
H129N |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,485,654 (GRCm39) |
L231P |
probably damaging |
Het |
| Syngap1 |
A |
C |
17: 27,160,478 (GRCm39) |
Y18S |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,335 (GRCm39) |
Y1557C |
probably benign |
Het |
| Trim44 |
G |
T |
2: 102,230,489 (GRCm39) |
P181T |
possibly damaging |
Het |
| Trp53i13 |
A |
T |
11: 77,399,666 (GRCm39) |
V221D |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,641,236 (GRCm39) |
S1554P |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,045,158 (GRCm39) |
N288D |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,196 (GRCm39) |
Y405* |
probably null |
Het |
| Vps35 |
T |
C |
8: 86,010,818 (GRCm39) |
D175G |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,071,532 (GRCm39) |
L949Q |
probably damaging |
Het |
| Wwp1 |
G |
A |
4: 19,639,991 (GRCm39) |
T517I |
probably damaging |
Het |
| Zfp462 |
T |
G |
4: 55,008,509 (GRCm39) |
F158L |
probably benign |
Het |
| Zfp703 |
T |
A |
8: 27,469,906 (GRCm39) |
H523Q |
probably damaging |
Het |
|
| Other mutations in Pcdhb13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Pcdhb13
|
APN |
18 |
37,576,774 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL00718:Pcdhb13
|
APN |
18 |
37,577,874 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01143:Pcdhb13
|
APN |
18 |
37,575,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01816:Pcdhb13
|
APN |
18 |
37,576,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01916:Pcdhb13
|
APN |
18 |
37,576,914 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02063:Pcdhb13
|
APN |
18 |
37,577,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Pcdhb13
|
APN |
18 |
37,576,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02332:Pcdhb13
|
APN |
18 |
37,576,635 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02407:Pcdhb13
|
APN |
18 |
37,576,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Pcdhb13
|
APN |
18 |
37,577,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02514:Pcdhb13
|
APN |
18 |
37,576,044 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03025:Pcdhb13
|
APN |
18 |
37,575,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03227:Pcdhb13
|
APN |
18 |
37,576,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03233:Pcdhb13
|
APN |
18 |
37,577,318 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03239:Pcdhb13
|
APN |
18 |
37,575,888 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0046:Pcdhb13
|
UTSW |
18 |
37,577,310 (GRCm39) |
missense |
probably benign |
|
|
R0172:Pcdhb13
|
UTSW |
18 |
37,575,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0201:Pcdhb13
|
UTSW |
18 |
37,575,634 (GRCm39) |
missense |
probably benign |
|
|
R0594:Pcdhb13
|
UTSW |
18 |
37,576,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1235:Pcdhb13
|
UTSW |
18 |
37,578,012 (GRCm39) |
makesense |
probably null |
|
|
R1292:Pcdhb13
|
UTSW |
18 |
37,576,885 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1481:Pcdhb13
|
UTSW |
18 |
37,575,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Pcdhb13
|
UTSW |
18 |
37,576,912 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2058:Pcdhb13
|
UTSW |
18 |
37,577,620 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3508:Pcdhb13
|
UTSW |
18 |
37,576,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3713:Pcdhb13
|
UTSW |
18 |
37,576,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4125:Pcdhb13
|
UTSW |
18 |
37,576,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Pcdhb13
|
UTSW |
18 |
37,576,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4747:Pcdhb13
|
UTSW |
18 |
37,577,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4957:Pcdhb13
|
UTSW |
18 |
37,577,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4973:Pcdhb13
|
UTSW |
18 |
37,576,237 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5354:Pcdhb13
|
UTSW |
18 |
37,577,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Pcdhb13
|
UTSW |
18 |
37,576,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5544:Pcdhb13
|
UTSW |
18 |
37,576,573 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5897:Pcdhb13
|
UTSW |
18 |
37,576,264 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6174:Pcdhb13
|
UTSW |
18 |
37,576,474 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6702:Pcdhb13
|
UTSW |
18 |
37,577,828 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6765:Pcdhb13
|
UTSW |
18 |
37,576,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Pcdhb13
|
UTSW |
18 |
37,576,509 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7144:Pcdhb13
|
UTSW |
18 |
37,576,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7225:Pcdhb13
|
UTSW |
18 |
37,577,490 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7239:Pcdhb13
|
UTSW |
18 |
37,577,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7437:Pcdhb13
|
UTSW |
18 |
37,577,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Pcdhb13
|
UTSW |
18 |
37,577,871 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8334:Pcdhb13
|
UTSW |
18 |
37,577,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8463:Pcdhb13
|
UTSW |
18 |
37,576,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8476:Pcdhb13
|
UTSW |
18 |
37,577,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Pcdhb13
|
UTSW |
18 |
37,577,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Pcdhb13
|
UTSW |
18 |
37,577,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Pcdhb13
|
UTSW |
18 |
37,576,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Pcdhb13
|
UTSW |
18 |
37,576,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Pcdhb13
|
UTSW |
18 |
37,577,695 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Pcdhb13
|
UTSW |
18 |
37,576,288 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Pcdhb13
|
UTSW |
18 |
37,575,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACGGAACCATTTGCTGCTG -3'
(R):5'- GAGGGTCAAGCTGCAAATACTG -3'
Sequencing Primer
(F):5'- TGCAGCTAAGCATTCCGGAG -3'
(R):5'- GGTCAAGCTGCAAATACTGTCTGTTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation