Incidental Mutation 'R1481:Pcdhb13'
ID |
164411 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb13
|
Ensembl Gene |
ENSMUSG00000047307 |
Gene Name |
protocadherin beta 13 |
Synonyms |
PcdhbM, Pcdbh6 |
MMRRC Submission |
039534-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R1481 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37575889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 89
(L89Q)
|
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: L89Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000061087 Gene: ENSMUSG00000047307 AA Change: L89Q
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 |
0.4274 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
100% (71/71) |
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 |
Arhgef5 |
A |
G |
6: 43,251,568 (GRCm39) |
H773R |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,062,583 (GRCm39) |
V3365A |
probably damaging |
Het |
Bmp3 |
G |
A |
5: 99,020,329 (GRCm39) |
V251M |
probably damaging |
Het |
Ccdc175 |
C |
A |
12: 72,148,722 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
C |
T |
18: 22,238,678 (GRCm39) |
G313D |
probably benign |
Het |
Cd300ld2 |
T |
A |
11: 114,903,459 (GRCm39) |
I129F |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,609,951 (GRCm39) |
Q120R |
possibly damaging |
Het |
Ckb |
T |
C |
12: 111,637,696 (GRCm39) |
H145R |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,045,393 (GRCm39) |
N336K |
probably damaging |
Het |
Coil |
T |
A |
11: 88,864,886 (GRCm39) |
C38S |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,183,041 (GRCm39) |
V133A |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,094 (GRCm39) |
E943G |
probably damaging |
Het |
Cyp2c54 |
C |
T |
19: 40,036,032 (GRCm39) |
D293N |
probably benign |
Het |
Cyp2f2 |
T |
C |
7: 26,821,302 (GRCm39) |
S72P |
probably benign |
Het |
Dip2c |
G |
A |
13: 9,601,902 (GRCm39) |
|
probably null |
Het |
Dock6 |
T |
C |
9: 21,731,918 (GRCm39) |
T1158A |
probably benign |
Het |
Dscaml1 |
G |
A |
9: 45,583,941 (GRCm39) |
V469I |
probably benign |
Het |
Efcab14 |
A |
G |
4: 115,613,714 (GRCm39) |
T221A |
probably benign |
Het |
Ehbp1 |
T |
C |
11: 21,956,782 (GRCm39) |
*1207W |
probably null |
Het |
Eln |
T |
C |
5: 134,735,426 (GRCm39) |
K786E |
probably damaging |
Het |
Fyb1 |
C |
T |
15: 6,649,128 (GRCm39) |
P385S |
probably benign |
Het |
Galr1 |
A |
G |
18: 82,423,866 (GRCm39) |
I137T |
possibly damaging |
Het |
Gcm1 |
A |
T |
9: 77,966,999 (GRCm39) |
K73* |
probably null |
Het |
Gemin5 |
T |
C |
11: 58,032,480 (GRCm39) |
N775D |
probably damaging |
Het |
Gli3 |
C |
T |
13: 15,788,435 (GRCm39) |
H147Y |
probably damaging |
Het |
Gm10754 |
G |
T |
10: 97,518,089 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
T |
C |
6: 25,669,137 (GRCm39) |
D569G |
probably damaging |
Het |
Grina |
T |
A |
15: 76,133,289 (GRCm39) |
Y286N |
probably damaging |
Het |
Gtf3c1 |
C |
A |
7: 125,292,310 (GRCm39) |
|
probably null |
Het |
Kcnc4 |
C |
T |
3: 107,355,534 (GRCm39) |
V305M |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,916,338 (GRCm39) |
F724L |
probably benign |
Het |
Kpnb1 |
T |
C |
11: 97,069,136 (GRCm39) |
Y249C |
probably damaging |
Het |
Krt6b |
T |
C |
15: 101,586,809 (GRCm39) |
T269A |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,097,380 (GRCm39) |
K1555E |
probably damaging |
Het |
Maneal |
T |
C |
4: 124,755,650 (GRCm39) |
Y104C |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,567,679 (GRCm39) |
T1681A |
unknown |
Het |
Mettl17 |
T |
C |
14: 52,128,160 (GRCm39) |
L272P |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,741,456 (GRCm39) |
S357C |
probably benign |
Het |
Mmp19 |
C |
A |
10: 128,634,047 (GRCm39) |
T316K |
possibly damaging |
Het |
Mroh9 |
C |
T |
1: 162,854,078 (GRCm39) |
G774E |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,096,325 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
C |
A |
5: 125,104,202 (GRCm39) |
E963* |
probably null |
Het |
Nol6 |
T |
A |
4: 41,123,596 (GRCm39) |
T51S |
probably benign |
Het |
Nsun3 |
A |
T |
16: 62,555,732 (GRCm39) |
C265S |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Nutm2 |
T |
A |
13: 50,623,517 (GRCm39) |
N71K |
probably damaging |
Het |
Or10a5 |
T |
G |
7: 106,635,356 (GRCm39) |
L5R |
probably benign |
Het |
Or5p73 |
C |
T |
7: 108,065,167 (GRCm39) |
T212I |
probably benign |
Het |
Orc3 |
T |
A |
4: 34,607,228 (GRCm39) |
E34V |
possibly damaging |
Het |
Polr3a |
A |
T |
14: 24,502,616 (GRCm39) |
V1241E |
probably null |
Het |
Prpf39 |
C |
T |
12: 65,100,088 (GRCm39) |
P135S |
probably damaging |
Het |
Psrc1 |
T |
C |
3: 108,292,309 (GRCm39) |
V34A |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,989,684 (GRCm39) |
V52M |
probably benign |
Het |
Rassf9 |
A |
G |
10: 102,381,895 (GRCm39) |
T424A |
probably benign |
Het |
Ripor3 |
G |
T |
2: 167,842,297 (GRCm39) |
R61S |
possibly damaging |
Het |
Ryr3 |
C |
T |
2: 112,466,867 (GRCm39) |
|
probably benign |
Het |
Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
Setbp1 |
C |
T |
18: 78,826,516 (GRCm39) |
V1366M |
probably benign |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Tctn2 |
T |
C |
5: 124,745,826 (GRCm39) |
|
noncoding transcript |
Het |
Tmem45a |
A |
T |
16: 56,631,965 (GRCm39) |
F218I |
possibly damaging |
Het |
Tpte |
A |
T |
8: 22,845,487 (GRCm39) |
R512S |
probably damaging |
Het |
Trim37 |
T |
A |
11: 87,020,585 (GRCm39) |
L22* |
probably null |
Het |
Ttc6 |
A |
G |
12: 57,783,916 (GRCm39) |
N1792D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,775,960 (GRCm39) |
M1694T |
probably damaging |
Het |
Vmn1r181 |
T |
A |
7: 23,684,137 (GRCm39) |
W201R |
probably damaging |
Het |
Wdr74 |
C |
T |
19: 8,715,592 (GRCm39) |
L198F |
possibly damaging |
Het |
Zfp560 |
T |
C |
9: 20,260,086 (GRCm39) |
T259A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCAAAGTTACCTCGGTGATGAAG -3'
(R):5'- AGGAGCATTTCTCTGGCAGGAAAC -3'
Sequencing Primer
(F):5'- GGTTCAGGATCAATTCAGTATGCC -3'
(R):5'- TCTCTGGCAGGAAACTCTGG -3'
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Posted On |
2014-03-28 |