Incidental Mutation 'IGL02407:Pcdhb13'
| ID |
292134 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb13
|
| Ensembl Gene |
ENSMUSG00000047307 |
| Gene Name |
protocadherin beta 13 |
| Synonyms |
PcdhbM, Pcdbh6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37576128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 169
(Y169N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052387]
[ENSMUST00000055495]
[ENSMUST00000056915]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052387
|
| SMART Domains |
Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
30 |
112 |
1.4e-35 |
PFAM |
|
CA
|
155 |
240 |
1.53e-20 |
SMART |
|
CA
|
264 |
345 |
3.52e-29 |
SMART |
|
CA
|
368 |
449 |
2.24e-22 |
SMART |
|
CA
|
473 |
559 |
2.38e-26 |
SMART |
|
CA
|
589 |
670 |
4.12e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.9e-27 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000056915
AA Change: Y169N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: Y169N
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,645,575 (GRCm39) |
W1040* |
probably null |
Het |
| Adgrv1 |
C |
A |
13: 81,627,789 (GRCm39) |
A3691S |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,718,295 (GRCm39) |
Y345* |
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,069,823 (GRCm39) |
Y496* |
probably null |
Het |
| Ash1l |
T |
C |
3: 88,979,855 (GRCm39) |
V2793A |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,668,853 (GRCm39) |
D575E |
probably benign |
Het |
| Ceacam20 |
G |
T |
7: 19,704,332 (GRCm39) |
V128F |
probably benign |
Het |
| Cers4 |
A |
T |
8: 4,570,306 (GRCm39) |
K204* |
probably null |
Het |
| Cog1 |
T |
C |
11: 113,544,852 (GRCm39) |
Y345H |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,272 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
A |
T |
1: 24,351,453 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
T |
A |
15: 30,966,914 (GRCm39) |
M955K |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,388,652 (GRCm39) |
M275K |
probably damaging |
Het |
| Degs2 |
T |
G |
12: 108,658,254 (GRCm39) |
T242P |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,890,001 (GRCm39) |
V612A |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,398,733 (GRCm39) |
F45I |
probably damaging |
Het |
| Exoc1 |
A |
C |
5: 76,693,193 (GRCm39) |
N360H |
probably damaging |
Het |
| Fam221b |
A |
T |
4: 43,666,309 (GRCm39) |
S101T |
possibly damaging |
Het |
| Garre1 |
A |
T |
7: 33,955,909 (GRCm39) |
N393K |
probably damaging |
Het |
| Glyr1 |
A |
G |
16: 4,854,812 (GRCm39) |
F89L |
probably benign |
Het |
| Herc4 |
C |
A |
10: 63,142,203 (GRCm39) |
T668K |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,525,874 (GRCm39) |
V259I |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,967,983 (GRCm39) |
D397E |
probably damaging |
Het |
| Ift80 |
G |
T |
3: 68,805,869 (GRCm39) |
D724E |
probably benign |
Het |
| Igkv3-10 |
T |
C |
6: 70,550,223 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,842,678 (GRCm39) |
A75S |
possibly damaging |
Het |
| Kif13a |
C |
T |
13: 46,938,769 (GRCm39) |
V76M |
probably damaging |
Het |
| Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
| Lgals8 |
A |
G |
13: 12,469,699 (GRCm39) |
W87R |
probably benign |
Het |
| Mccc2 |
G |
A |
13: 100,127,816 (GRCm39) |
P96L |
probably damaging |
Het |
| Megf11 |
A |
C |
9: 64,587,531 (GRCm39) |
D443A |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,321,008 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,281 (GRCm39) |
V230A |
probably benign |
Het |
| Nif3l1 |
G |
T |
1: 58,496,956 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,923 (GRCm39) |
|
noncoding transcript |
Het |
| Peg3 |
A |
G |
7: 6,710,635 (GRCm39) |
I1529T |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,279,915 (GRCm39) |
I219F |
probably damaging |
Het |
| Prpf38a |
G |
A |
4: 108,424,836 (GRCm39) |
R242W |
unknown |
Het |
| Prrc2a |
A |
T |
17: 35,379,480 (GRCm39) |
D255E |
unknown |
Het |
| Rapgef6 |
G |
T |
11: 54,567,181 (GRCm39) |
D1121Y |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,585,303 (GRCm39) |
H2761L |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,810,042 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,510,065 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,826,777 (GRCm39) |
S172G |
probably benign |
Het |
| Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
| Smurf1 |
A |
T |
5: 144,821,534 (GRCm39) |
M496K |
probably damaging |
Het |
| Srgap2 |
A |
T |
1: 131,247,340 (GRCm39) |
V564D |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,430,576 (GRCm39) |
I162T |
probably benign |
Het |
| Tchhl1 |
A |
T |
3: 93,378,634 (GRCm39) |
N446I |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,584 (GRCm39) |
H211Q |
probably damaging |
Het |
| Trim3 |
T |
C |
7: 105,262,218 (GRCm39) |
N586S |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,868,869 (GRCm39) |
E507G |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,020,523 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,365,316 (GRCm39) |
K310* |
probably null |
Het |
| Unc13a |
T |
A |
8: 72,101,586 (GRCm39) |
N1022Y |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,228 (GRCm39) |
N38Y |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,770 (GRCm39) |
I161F |
probably damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,243,108 (GRCm39) |
M25T |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,323,795 (GRCm39) |
R130Q |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,802 (GRCm39) |
S724G |
probably benign |
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 |
|
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 |
|
R7812:Pcdhb13
|
UTSW |
18 |
37,575,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation