Incidental Mutation 'IGL02423:Pcdhb13'
| ID |
292747 |
| 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 # |
IGL02423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37577392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 590
(V590A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052387]
[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 |
possibly damaging
Transcript: ENSMUST00000056915
AA Change: V590A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: V590A
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,109,832 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,619,756 (GRCm39) |
R81W |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,983,467 (GRCm39) |
I72V |
probably benign |
Het |
| Banp |
A |
G |
8: 122,733,830 (GRCm39) |
I360V |
probably benign |
Het |
| Bmp8a |
C |
A |
4: 123,210,220 (GRCm39) |
G289C |
possibly damaging |
Het |
| Car3 |
A |
T |
3: 14,931,911 (GRCm39) |
H94L |
probably damaging |
Het |
| Ccdc137 |
G |
A |
11: 120,350,927 (GRCm39) |
R108H |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 4,938,905 (GRCm39) |
N411S |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,483,800 (GRCm39) |
M907V |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,923 (GRCm39) |
W19R |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,032 (GRCm39) |
S2360P |
possibly damaging |
Het |
| Eif2d |
T |
G |
1: 131,081,097 (GRCm39) |
|
probably benign |
Het |
| Epx |
A |
G |
11: 87,762,144 (GRCm39) |
I369T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,789,378 (GRCm39) |
E648G |
probably benign |
Het |
| Fer1l4 |
G |
A |
2: 155,894,827 (GRCm39) |
P14L |
probably benign |
Het |
| Folr1 |
A |
G |
7: 101,507,732 (GRCm39) |
F236S |
probably benign |
Het |
| Foxj2 |
T |
G |
6: 122,819,732 (GRCm39) |
M540R |
possibly damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,824 (GRCm39) |
T420A |
probably benign |
Het |
| H2-T3 |
T |
A |
17: 36,498,248 (GRCm39) |
T222S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,740,718 (GRCm39) |
M2163K |
probably damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,450 (GRCm39) |
V244A |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,391,050 (GRCm39) |
V373D |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,590,987 (GRCm39) |
|
probably benign |
Het |
| Krtap1-3 |
A |
T |
11: 99,481,680 (GRCm39) |
C156S |
unknown |
Het |
| Mab21l3 |
T |
C |
3: 101,726,045 (GRCm39) |
D317G |
probably damaging |
Het |
| Nherf1 |
A |
G |
11: 115,054,539 (GRCm39) |
|
probably null |
Het |
| Nox3 |
T |
C |
17: 3,733,191 (GRCm39) |
H240R |
probably damaging |
Het |
| Nxn |
A |
T |
11: 76,164,858 (GRCm39) |
S218T |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Or6c35 |
G |
A |
10: 129,169,397 (GRCm39) |
V216I |
probably benign |
Het |
| Pim3 |
T |
C |
15: 88,747,734 (GRCm39) |
V200A |
probably benign |
Het |
| Plekha3 |
T |
C |
2: 76,510,524 (GRCm39) |
F20L |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,118 (GRCm39) |
R120S |
possibly damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,906,537 (GRCm39) |
D364A |
probably benign |
Het |
| Psd |
A |
G |
19: 46,302,943 (GRCm39) |
F155L |
possibly damaging |
Het |
| Rbm22 |
T |
C |
18: 60,704,891 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,760,084 (GRCm39) |
F1556I |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,685 (GRCm39) |
A465T |
probably benign |
Het |
| Sdf2 |
A |
G |
11: 78,141,844 (GRCm39) |
S60G |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,615,776 (GRCm39) |
I400T |
probably damaging |
Het |
| Ski |
T |
C |
4: 155,244,191 (GRCm39) |
D478G |
probably damaging |
Het |
| Slc12a7 |
A |
T |
13: 73,911,882 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,211,322 (GRCm39) |
T1074A |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,059,298 (GRCm39) |
T239A |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,928,419 (GRCm39) |
H84Y |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,318,295 (GRCm39) |
Q444K |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,140,305 (GRCm39) |
I817F |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,082,077 (GRCm39) |
Q1159K |
possibly damaging |
Het |
| Tmem39b |
G |
A |
4: 129,572,442 (GRCm39) |
H387Y |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,907 (GRCm39) |
H174R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,535,617 (GRCm39) |
V35134I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,304,900 (GRCm39) |
I378V |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,889,968 (GRCm39) |
E42G |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,665 (GRCm39) |
H440Q |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zcchc7 |
T |
A |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,228 (GRCm39) |
H284N |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,120 (GRCm39) |
H380R |
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 |
|
IGL02407:Pcdhb13
|
APN |
18 |
37,576,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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