Incidental Mutation 'R5354:Pcdhb13'
ID |
424010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb13
|
Ensembl Gene |
ENSMUSG00000047307 |
Gene Name |
protocadherin beta 13 |
Synonyms |
PcdhbM, Pcdbh6 |
MMRRC Submission |
042933-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R5354 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37577844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 741
(G741C)
|
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: G741C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061087 Gene: ENSMUSG00000047307 AA Change: G741C
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 |
|
Meta Mutation Damage Score |
0.8668 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (80/80) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
A |
G |
16: 14,436,535 (GRCm39) |
K196R |
probably benign |
Het |
Ablim1 |
T |
C |
19: 57,119,355 (GRCm39) |
E243G |
probably benign |
Het |
Acat1 |
T |
A |
9: 53,500,483 (GRCm39) |
E271V |
possibly damaging |
Het |
Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
Agbl3 |
T |
A |
6: 34,791,687 (GRCm39) |
H596Q |
probably benign |
Het |
Anxa7 |
A |
G |
14: 20,514,977 (GRCm39) |
L177P |
possibly damaging |
Het |
Atp11a |
A |
T |
8: 12,856,753 (GRCm39) |
N48I |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,191,316 (GRCm39) |
N492I |
possibly damaging |
Het |
Bclaf1 |
A |
G |
10: 20,209,278 (GRCm39) |
Y498C |
probably damaging |
Het |
Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
Ccdc170 |
G |
A |
10: 4,484,188 (GRCm39) |
C338Y |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Ckap2 |
A |
C |
8: 22,667,581 (GRCm39) |
N93K |
probably damaging |
Het |
Clca3a1 |
A |
T |
3: 144,442,766 (GRCm39) |
S759R |
possibly damaging |
Het |
Coro1c |
A |
T |
5: 113,984,226 (GRCm39) |
I347N |
possibly damaging |
Het |
Cpox |
A |
G |
16: 58,491,205 (GRCm39) |
T139A |
probably damaging |
Het |
Cyp4a12b |
C |
A |
4: 115,290,661 (GRCm39) |
|
probably null |
Het |
Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
Dhx38 |
A |
G |
8: 110,282,378 (GRCm39) |
V683A |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,496,299 (GRCm39) |
|
probably null |
Het |
Dnajb7 |
T |
C |
15: 81,292,208 (GRCm39) |
E43G |
probably damaging |
Het |
Dsc1 |
A |
T |
18: 20,220,632 (GRCm39) |
V714E |
probably damaging |
Het |
Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
Egfem1 |
T |
C |
3: 29,136,361 (GRCm39) |
|
probably null |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fmo1 |
T |
C |
1: 162,657,714 (GRCm39) |
T476A |
probably benign |
Het |
Gm10237 |
T |
C |
16: 35,741,099 (GRCm39) |
|
noncoding transcript |
Het |
Gm14496 |
A |
G |
2: 181,642,602 (GRCm39) |
S758G |
probably damaging |
Het |
Gpat2 |
T |
A |
2: 127,270,643 (GRCm39) |
L97Q |
probably damaging |
Het |
Gpr162 |
T |
C |
6: 124,836,600 (GRCm39) |
D357G |
probably benign |
Het |
Hax1 |
A |
T |
3: 89,905,262 (GRCm39) |
D34E |
probably damaging |
Het |
Hmgcr |
C |
T |
13: 96,791,404 (GRCm39) |
V97M |
probably benign |
Het |
Hsd3b2 |
T |
C |
3: 98,619,631 (GRCm39) |
T105A |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,752,183 (GRCm39) |
|
probably null |
Het |
Islr |
T |
C |
9: 58,064,895 (GRCm39) |
E204G |
probably damaging |
Het |
Lrrc36 |
A |
G |
8: 106,151,996 (GRCm39) |
N60D |
probably damaging |
Het |
Maf1 |
T |
C |
15: 76,237,330 (GRCm39) |
|
probably benign |
Het |
Mrgprb4 |
T |
A |
7: 47,848,077 (GRCm39) |
R284W |
probably benign |
Het |
Myh4 |
A |
T |
11: 67,146,551 (GRCm39) |
N1508I |
possibly damaging |
Het |
Nufip2 |
A |
G |
11: 77,577,103 (GRCm39) |
H17R |
unknown |
Het |
Oasl1 |
A |
T |
5: 115,075,055 (GRCm39) |
I372L |
probably damaging |
Het |
Or5ae1 |
T |
A |
7: 84,565,357 (GRCm39) |
Y123* |
probably null |
Het |
Or6p1 |
T |
C |
1: 174,258,252 (GRCm39) |
L86P |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,184,440 (GRCm39) |
Y226N |
probably damaging |
Het |
Pcdhga10 |
A |
G |
18: 37,881,259 (GRCm39) |
D340G |
probably damaging |
Het |
Pclo |
C |
A |
5: 14,728,822 (GRCm39) |
|
probably benign |
Het |
Pcsk4 |
G |
T |
10: 80,159,523 (GRCm39) |
N416K |
probably damaging |
Het |
Pde10a |
C |
A |
17: 9,180,812 (GRCm39) |
R398S |
probably damaging |
Het |
Plin1 |
T |
A |
7: 79,375,469 (GRCm39) |
T227S |
possibly damaging |
Het |
Pnpt1 |
A |
G |
11: 29,104,166 (GRCm39) |
D542G |
probably damaging |
Het |
Ppp4r3b |
T |
A |
11: 29,161,646 (GRCm39) |
D673E |
probably benign |
Het |
Prr18 |
C |
A |
17: 8,559,892 (GRCm39) |
P16Q |
probably damaging |
Het |
Psmc3 |
T |
A |
2: 90,889,698 (GRCm39) |
Y440N |
probably damaging |
Het |
Rassf5 |
T |
C |
1: 131,108,385 (GRCm39) |
I232V |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,577,592 (GRCm39) |
D218V |
probably damaging |
Het |
Skint10 |
T |
C |
4: 112,568,790 (GRCm39) |
N309S |
possibly damaging |
Het |
Slc6a1 |
T |
C |
6: 114,279,584 (GRCm39) |
M121T |
possibly damaging |
Het |
Slit3 |
A |
G |
11: 35,566,740 (GRCm39) |
D1004G |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,717,177 (GRCm39) |
V215I |
possibly damaging |
Het |
Son |
T |
C |
16: 91,452,627 (GRCm39) |
L458S |
probably damaging |
Het |
St18 |
C |
T |
1: 6,914,395 (GRCm39) |
A782V |
probably damaging |
Het |
Synpo |
A |
G |
18: 60,735,303 (GRCm39) |
|
probably null |
Het |
Thbs3 |
A |
G |
3: 89,128,684 (GRCm39) |
D458G |
probably damaging |
Het |
Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
Trp63 |
A |
G |
16: 25,503,105 (GRCm39) |
|
probably null |
Het |
Vmn1r27 |
C |
A |
6: 58,192,581 (GRCm39) |
R141L |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,945,484 (GRCm39) |
I699V |
probably benign |
Het |
Xkr6 |
A |
G |
14: 64,056,353 (GRCm39) |
D88G |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,379,050 (GRCm39) |
|
probably benign |
Het |
Zbtb7b |
T |
C |
3: 89,286,913 (GRCm39) |
|
probably benign |
Het |
Zfp618 |
A |
T |
4: 62,998,265 (GRCm39) |
D33V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCGCTCACGTTATACCTGG -3'
(R):5'- CATCGATAGCGTGCAGATATAGG -3'
Sequencing Primer
(F):5'- GCGCTCACGTTATACCTGGTTATTG -3'
(R):5'- ATAGCGTGCAGATATAGGTTAAAAG -3'
|
Posted On |
2016-08-04 |