Incidental Mutation 'R6702:Pcdhb13'
ID |
528839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb13
|
Ensembl Gene |
ENSMUSG00000047307 |
Gene Name |
protocadherin beta 13 |
Synonyms |
PcdhbM, Pcdbh6 |
MMRRC Submission |
044820-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R6702 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37575570-37579262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 37577828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 735
(H735Q)
|
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 benign
Transcript: ENSMUST00000056915
AA Change: H735Q
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000061087 Gene: ENSMUSG00000047307 AA Change: H735Q
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (59/61) |
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 |
1700020N01Rik |
T |
A |
10: 21,497,558 (GRCm39) |
Y66* |
probably null |
Het |
Ak3 |
A |
G |
19: 29,003,627 (GRCm39) |
V183A |
probably damaging |
Het |
Ano10 |
G |
T |
9: 122,088,630 (GRCm39) |
Q397K |
possibly damaging |
Het |
Atg7 |
C |
A |
6: 114,648,058 (GRCm39) |
|
probably null |
Het |
Brpf3 |
A |
C |
17: 29,029,633 (GRCm39) |
N531T |
probably benign |
Het |
Casp2 |
T |
C |
6: 42,244,985 (GRCm39) |
V128A |
probably benign |
Het |
Cdcp2 |
T |
C |
4: 106,964,283 (GRCm39) |
C378R |
probably benign |
Het |
Cfap54 |
T |
A |
10: 92,704,596 (GRCm39) |
D2828V |
unknown |
Het |
Col6a3 |
T |
C |
1: 90,707,161 (GRCm39) |
D1984G |
unknown |
Het |
Csnk2a1 |
A |
G |
2: 152,100,608 (GRCm39) |
T93A |
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,764,568 (GRCm39) |
D758E |
possibly damaging |
Het |
Dlx2 |
A |
G |
2: 71,376,571 (GRCm39) |
S56P |
probably damaging |
Het |
Dna2 |
T |
A |
10: 62,809,073 (GRCm39) |
I1055N |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,882,869 (GRCm39) |
Y2909C |
probably damaging |
Het |
Dnm3 |
A |
G |
1: 162,146,256 (GRCm39) |
F296L |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,406,083 (GRCm39) |
T945A |
probably benign |
Het |
Herpud1 |
T |
C |
8: 95,119,154 (GRCm39) |
|
probably null |
Het |
Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
Kif26b |
C |
G |
1: 178,744,852 (GRCm39) |
S1649R |
possibly damaging |
Het |
Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
Ltbr |
A |
G |
6: 125,285,031 (GRCm39) |
S290P |
probably benign |
Het |
Map4k1 |
T |
G |
7: 28,701,821 (GRCm39) |
S803A |
possibly damaging |
Het |
Mef2c |
T |
A |
13: 83,773,525 (GRCm39) |
C134S |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,383,818 (GRCm39) |
I1622V |
probably benign |
Het |
Nbea |
A |
G |
3: 55,912,923 (GRCm39) |
Y955H |
probably benign |
Het |
Ndor1 |
A |
G |
2: 25,139,902 (GRCm39) |
F142S |
possibly damaging |
Het |
Nynrin |
A |
G |
14: 56,101,935 (GRCm39) |
T535A |
possibly damaging |
Het |
Or4k15 |
A |
G |
14: 50,364,688 (GRCm39) |
Y218C |
probably damaging |
Het |
Or4k42 |
T |
A |
2: 111,320,454 (GRCm39) |
|
probably null |
Het |
Or5ac23 |
C |
T |
16: 59,148,961 (GRCm39) |
V304I |
probably benign |
Het |
Or5d46 |
G |
A |
2: 88,170,586 (GRCm39) |
V226I |
probably benign |
Het |
Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,474,959 (GRCm39) |
M32L |
probably benign |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Per2 |
C |
T |
1: 91,355,671 (GRCm39) |
E696K |
probably damaging |
Het |
Pld4 |
T |
C |
12: 112,731,485 (GRCm39) |
S213P |
probably damaging |
Het |
Prkg1 |
T |
A |
19: 30,970,484 (GRCm39) |
H209L |
probably benign |
Het |
Psg16 |
T |
C |
7: 16,824,321 (GRCm39) |
L35P |
probably damaging |
Het |
Pxn |
C |
T |
5: 115,689,955 (GRCm39) |
L160F |
probably benign |
Het |
Rab3a |
A |
G |
8: 71,209,095 (GRCm39) |
D77G |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,229,376 (GRCm39) |
N807K |
probably damaging |
Het |
Rgma |
A |
T |
7: 73,067,068 (GRCm39) |
T108S |
probably damaging |
Het |
Rxrg |
A |
G |
1: 167,441,374 (GRCm39) |
S51G |
probably benign |
Het |
S1pr3 |
A |
T |
13: 51,573,475 (GRCm39) |
I219F |
probably damaging |
Het |
Sec23b |
A |
T |
2: 144,401,109 (GRCm39) |
|
probably null |
Het |
Sfrp5 |
G |
T |
19: 42,190,266 (GRCm39) |
T62K |
probably benign |
Het |
Slco1a6 |
T |
A |
6: 142,048,826 (GRCm39) |
Y318F |
probably damaging |
Het |
Slit1 |
A |
C |
19: 41,603,309 (GRCm39) |
S931A |
possibly damaging |
Het |
Sorl1 |
A |
T |
9: 41,982,497 (GRCm39) |
V361E |
probably damaging |
Het |
St6galnac2 |
A |
G |
11: 116,575,213 (GRCm39) |
S209P |
probably benign |
Het |
Supt6 |
C |
A |
11: 78,122,626 (GRCm39) |
R199L |
possibly damaging |
Het |
Tas2r107 |
A |
C |
6: 131,636,347 (GRCm39) |
M234R |
probably benign |
Het |
Tmem72 |
C |
G |
6: 116,675,310 (GRCm39) |
V61L |
probably benign |
Het |
Trpm5 |
C |
A |
7: 142,623,055 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
G |
2: 76,550,456 (GRCm39) |
T23282P |
probably damaging |
Het |
Ubap2 |
GCCCGCTTGCCCCGCT |
GCCCGCTTGCCCCGCTTGCCCCGCT |
4: 41,227,210 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
A |
T |
2: 69,786,393 (GRCm39) |
R836W |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,205,273 (GRCm39) |
|
probably null |
Het |
Ythdf1 |
A |
G |
2: 180,560,926 (GRCm39) |
|
probably null |
Het |
Zfp780b |
T |
C |
7: 27,671,066 (GRCm39) |
T81A |
possibly damaging |
Het |
Zfp811 |
T |
C |
17: 33,016,816 (GRCm39) |
E407G |
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 |
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 |
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'- ACTCTTCATGTGCTGCTGG -3'
(R):5'- AGCTATTCCGAAGAGTAGGACTTTC -3'
Sequencing Primer
(F):5'- TACCTGCCTCTGCCAGAG -3'
(R):5'- GGACTTTCCTCTGTGTTCCTCTCAG -3'
|
Posted On |
2018-07-24 |