Incidental Mutation 'IGL02153:Pcdhb13'
| ID |
282107 |
| 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 # |
IGL02153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37576738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 372
(D372A)
|
| 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 |
probably damaging
Transcript: ENSMUST00000056915
AA Change: D372A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: D372A
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
C |
2: 152,283,161 (GRCm39) |
I275T |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,683,122 (GRCm39) |
K521* |
probably null |
Het |
| Csn3 |
A |
T |
5: 88,077,956 (GRCm39) |
N154I |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,180,670 (GRCm39) |
S1716P |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,846,304 (GRCm39) |
S18T |
probably benign |
Het |
| Esrra |
G |
A |
19: 6,891,190 (GRCm39) |
T190I |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,115 (GRCm39) |
I483T |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,666,985 (GRCm39) |
M182L |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,809,065 (GRCm39) |
F1795L |
probably benign |
Het |
| Gkn2 |
G |
A |
6: 87,350,390 (GRCm39) |
|
probably null |
Het |
| Gm8439 |
G |
A |
4: 120,466,787 (GRCm39) |
A93T |
unknown |
Het |
| Ift22 |
T |
C |
5: 136,940,550 (GRCm39) |
S72P |
probably benign |
Het |
| Kcnmb2 |
A |
G |
3: 32,232,993 (GRCm39) |
K24E |
probably damaging |
Het |
| Kcnq3 |
C |
A |
15: 65,897,040 (GRCm39) |
V287L |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,006,340 (GRCm39) |
M1262L |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,748,240 (GRCm39) |
I59T |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 98,872,761 (GRCm39) |
M141K |
possibly damaging |
Het |
| Mtdh |
C |
T |
15: 34,131,396 (GRCm39) |
L409F |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,372,537 (GRCm39) |
Q2724* |
probably null |
Het |
| Myo15a |
T |
G |
11: 60,389,223 (GRCm39) |
L2040R |
probably damaging |
Het |
| Nodal |
C |
T |
10: 61,260,324 (GRCm39) |
T325I |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,215,674 (GRCm39) |
T1194S |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,934,015 (GRCm39) |
N292K |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,776,793 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,229,773 (GRCm39) |
I1131T |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,688,772 (GRCm39) |
D132V |
probably damaging |
Het |
| Plxnb2 |
C |
A |
15: 89,050,016 (GRCm39) |
E502* |
probably null |
Het |
| Prox2 |
T |
C |
12: 85,134,703 (GRCm39) |
N526S |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,519,280 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
C |
T |
3: 79,567,427 (GRCm39) |
E308K |
probably benign |
Het |
| Sgca |
T |
C |
11: 94,854,110 (GRCm39) |
T120A |
probably damaging |
Het |
| Sh3tc1 |
G |
A |
5: 35,860,696 (GRCm39) |
R1054W |
probably damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,672,214 (GRCm39) |
|
probably benign |
Het |
| Spata45 |
T |
A |
1: 190,771,958 (GRCm39) |
M60K |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,661,716 (GRCm39) |
M372V |
probably damaging |
Het |
| Tas2r126 |
T |
G |
6: 42,411,598 (GRCm39) |
S44A |
probably benign |
Het |
| Tcea3 |
T |
A |
4: 136,000,945 (GRCm39) |
|
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,668,949 (GRCm39) |
E1157G |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,857 (GRCm39) |
I840V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,728,685 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,187,471 (GRCm39) |
Y3846* |
probably null |
Het |
| Usp47 |
G |
A |
7: 111,703,256 (GRCm39) |
D1171N |
probably benign |
Het |
| Vmn2r114 |
G |
A |
17: 23,510,782 (GRCm39) |
T566I |
probably benign |
Het |
| Wdr35 |
G |
A |
12: 9,058,535 (GRCm39) |
R575Q |
probably null |
Het |
| Xkr5 |
A |
T |
8: 18,983,683 (GRCm39) |
C454S |
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 |
|
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 |
|
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