Incidental Mutation 'R0882:Pcdhb12'
ID |
80685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb12
|
Ensembl Gene |
ENSMUSG00000043458 |
Gene Name |
protocadherin beta 12 |
Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
MMRRC Submission |
039049-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R0882 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 37570375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 507
(A507E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q91Y07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055495
AA Change: A507E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050357 Gene: ENSMUSG00000043458 AA Change: A507E
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 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 |
noncoding transcript
Transcript: ENSMUST00000193015
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193629
|
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Adh1 |
A |
T |
3: 137,992,558 (GRCm39) |
I225F |
possibly damaging |
Het |
Agap2 |
A |
G |
10: 126,923,319 (GRCm39) |
K691E |
unknown |
Het |
Alcam |
T |
C |
16: 52,073,573 (GRCm39) |
D564G |
possibly damaging |
Het |
Apbb2 |
T |
A |
5: 66,557,598 (GRCm39) |
T289S |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cep68 |
T |
C |
11: 20,189,393 (GRCm39) |
I540V |
probably benign |
Het |
Ctla4 |
T |
C |
1: 60,948,397 (GRCm39) |
V23A |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,379,292 (GRCm39) |
D3675E |
probably benign |
Het |
Fam209 |
G |
T |
2: 172,314,555 (GRCm39) |
V15F |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,942,664 (GRCm39) |
V1236A |
possibly damaging |
Het |
Gabbr2 |
A |
G |
4: 46,718,904 (GRCm39) |
I38T |
probably damaging |
Het |
Gdpd4 |
T |
C |
7: 97,615,505 (GRCm39) |
I110T |
probably damaging |
Het |
Gm4841 |
C |
T |
18: 60,402,852 (GRCm39) |
A414T |
possibly damaging |
Het |
Gtf3c4 |
A |
T |
2: 28,724,782 (GRCm39) |
Y176N |
probably damaging |
Het |
H2bc18 |
G |
A |
3: 96,177,060 (GRCm39) |
|
probably null |
Het |
Igsf9b |
T |
C |
9: 27,230,612 (GRCm39) |
Y264H |
probably damaging |
Het |
Itih4 |
A |
T |
14: 30,614,231 (GRCm39) |
N394Y |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,500,605 (GRCm39) |
T3815A |
possibly damaging |
Het |
Lrwd1 |
T |
C |
5: 136,152,254 (GRCm39) |
|
probably null |
Het |
Mc3r |
A |
G |
2: 172,091,711 (GRCm39) |
K311R |
probably benign |
Het |
Myb |
T |
C |
10: 21,032,259 (GRCm39) |
T41A |
possibly damaging |
Het |
Nfix |
T |
C |
8: 85,454,554 (GRCm39) |
D201G |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,085,512 (GRCm39) |
V1280A |
probably damaging |
Het |
Or51a5 |
A |
C |
7: 102,771,782 (GRCm39) |
S66A |
probably benign |
Het |
Or8a1b |
T |
C |
9: 37,623,168 (GRCm39) |
M136V |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,178,488 (GRCm39) |
T582A |
probably damaging |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pkp2 |
C |
A |
16: 16,087,575 (GRCm39) |
A753E |
probably damaging |
Het |
Plekha3 |
G |
A |
2: 76,513,142 (GRCm39) |
V76I |
possibly damaging |
Het |
Pnpla6 |
T |
C |
8: 3,567,081 (GRCm39) |
L33P |
probably damaging |
Het |
Pot1b |
C |
T |
17: 55,973,400 (GRCm39) |
|
probably benign |
Het |
Prr5l |
T |
C |
2: 101,588,886 (GRCm39) |
E88G |
possibly damaging |
Het |
Prss57 |
G |
A |
10: 79,621,699 (GRCm39) |
H97Y |
probably damaging |
Het |
Rttn |
C |
T |
18: 88,991,813 (GRCm39) |
Q131* |
probably null |
Het |
Scaf11 |
G |
T |
15: 96,316,176 (GRCm39) |
S1129R |
possibly damaging |
Het |
Slc25a20 |
T |
A |
9: 108,559,189 (GRCm39) |
M185K |
possibly damaging |
Het |
Sorbs3 |
T |
A |
14: 70,445,021 (GRCm39) |
E19V |
probably damaging |
Het |
Srgap2 |
A |
T |
1: 131,217,253 (GRCm39) |
C1020S |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,666,875 (GRCm39) |
S466P |
probably benign |
Het |
Tmem109 |
T |
C |
19: 10,849,205 (GRCm39) |
R217G |
possibly damaging |
Het |
Trio |
A |
T |
15: 27,732,980 (GRCm39) |
I2967N |
probably damaging |
Het |
Vars2 |
T |
C |
17: 35,968,191 (GRCm39) |
E899G |
probably benign |
Het |
Vmn2r109 |
A |
G |
17: 20,774,842 (GRCm39) |
|
probably benign |
Het |
Vps53 |
A |
G |
11: 75,973,485 (GRCm39) |
F170L |
probably damaging |
Het |
Zc2hc1a |
G |
A |
3: 7,591,422 (GRCm39) |
S149N |
possibly damaging |
Het |
Zfp820 |
A |
G |
17: 22,042,817 (GRCm39) |
|
probably benign |
Het |
Zhx3 |
A |
C |
2: 160,622,629 (GRCm39) |
F513V |
probably damaging |
Het |
|
Other mutations in Pcdhb12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Pcdhb12
|
APN |
18 |
37,570,035 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01309:Pcdhb12
|
APN |
18 |
37,569,207 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01834:Pcdhb12
|
APN |
18 |
37,570,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01893:Pcdhb12
|
APN |
18 |
37,570,263 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02617:Pcdhb12
|
APN |
18 |
37,570,099 (GRCm39) |
missense |
probably benign |
0.43 |
R0238:Pcdhb12
|
UTSW |
18 |
37,569,780 (GRCm39) |
missense |
probably benign |
0.00 |
R0238:Pcdhb12
|
UTSW |
18 |
37,569,780 (GRCm39) |
missense |
probably benign |
0.00 |
R0309:Pcdhb12
|
UTSW |
18 |
37,569,174 (GRCm39) |
missense |
probably benign |
|
R0392:Pcdhb12
|
UTSW |
18 |
37,570,011 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0494:Pcdhb12
|
UTSW |
18 |
37,571,148 (GRCm39) |
missense |
probably benign |
|
R0531:Pcdhb12
|
UTSW |
18 |
37,570,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R0571:Pcdhb12
|
UTSW |
18 |
37,570,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R0737:Pcdhb12
|
UTSW |
18 |
37,570,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R1253:Pcdhb12
|
UTSW |
18 |
37,568,874 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1300:Pcdhb12
|
UTSW |
18 |
37,570,450 (GRCm39) |
missense |
possibly damaging |
0.45 |
R1334:Pcdhb12
|
UTSW |
18 |
37,569,724 (GRCm39) |
missense |
probably damaging |
0.98 |
R1424:Pcdhb12
|
UTSW |
18 |
37,571,132 (GRCm39) |
missense |
probably benign |
|
R1513:Pcdhb12
|
UTSW |
18 |
37,570,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R1654:Pcdhb12
|
UTSW |
18 |
37,569,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R1717:Pcdhb12
|
UTSW |
18 |
37,569,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R1753:Pcdhb12
|
UTSW |
18 |
37,569,724 (GRCm39) |
missense |
probably damaging |
0.98 |
R1774:Pcdhb12
|
UTSW |
18 |
37,569,495 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1893:Pcdhb12
|
UTSW |
18 |
37,570,136 (GRCm39) |
missense |
probably benign |
0.24 |
R1901:Pcdhb12
|
UTSW |
18 |
37,570,683 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2114:Pcdhb12
|
UTSW |
18 |
37,569,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R2264:Pcdhb12
|
UTSW |
18 |
37,569,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R2915:Pcdhb12
|
UTSW |
18 |
37,570,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R3689:Pcdhb12
|
UTSW |
18 |
37,569,127 (GRCm39) |
missense |
probably benign |
0.01 |
R3918:Pcdhb12
|
UTSW |
18 |
37,570,101 (GRCm39) |
missense |
probably benign |
|
R4621:Pcdhb12
|
UTSW |
18 |
37,570,213 (GRCm39) |
missense |
probably benign |
|
R4679:Pcdhb12
|
UTSW |
18 |
37,570,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R4709:Pcdhb12
|
UTSW |
18 |
37,570,548 (GRCm39) |
missense |
probably benign |
0.08 |
R4904:Pcdhb12
|
UTSW |
18 |
37,570,909 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4953:Pcdhb12
|
UTSW |
18 |
37,569,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R5091:Pcdhb12
|
UTSW |
18 |
37,568,907 (GRCm39) |
nonsense |
probably null |
|
R5130:Pcdhb12
|
UTSW |
18 |
37,568,877 (GRCm39) |
missense |
probably benign |
|
R5204:Pcdhb12
|
UTSW |
18 |
37,569,142 (GRCm39) |
missense |
probably damaging |
0.99 |
R5361:Pcdhb12
|
UTSW |
18 |
37,570,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R5417:Pcdhb12
|
UTSW |
18 |
37,569,087 (GRCm39) |
missense |
probably benign |
0.00 |
R5979:Pcdhb12
|
UTSW |
18 |
37,571,044 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6117:Pcdhb12
|
UTSW |
18 |
37,568,695 (GRCm39) |
intron |
probably benign |
|
R6258:Pcdhb12
|
UTSW |
18 |
37,569,892 (GRCm39) |
missense |
probably benign |
0.00 |
R6260:Pcdhb12
|
UTSW |
18 |
37,569,892 (GRCm39) |
missense |
probably benign |
0.00 |
R6270:Pcdhb12
|
UTSW |
18 |
37,569,838 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6623:Pcdhb12
|
UTSW |
18 |
37,570,711 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7288:Pcdhb12
|
UTSW |
18 |
37,569,068 (GRCm39) |
missense |
probably benign |
0.07 |
R7733:Pcdhb12
|
UTSW |
18 |
37,570,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R7762:Pcdhb12
|
UTSW |
18 |
37,568,977 (GRCm39) |
missense |
probably damaging |
0.98 |
R8131:Pcdhb12
|
UTSW |
18 |
37,570,335 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8331:Pcdhb12
|
UTSW |
18 |
37,570,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R8483:Pcdhb12
|
UTSW |
18 |
37,570,590 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8553:Pcdhb12
|
UTSW |
18 |
37,570,687 (GRCm39) |
missense |
probably damaging |
0.99 |
R8693:Pcdhb12
|
UTSW |
18 |
37,570,474 (GRCm39) |
missense |
probably benign |
0.31 |
R8821:Pcdhb12
|
UTSW |
18 |
37,570,386 (GRCm39) |
missense |
probably benign |
0.07 |
R8831:Pcdhb12
|
UTSW |
18 |
37,570,386 (GRCm39) |
missense |
probably benign |
0.07 |
R8950:Pcdhb12
|
UTSW |
18 |
37,570,590 (GRCm39) |
missense |
probably benign |
0.39 |
R9037:Pcdhb12
|
UTSW |
18 |
37,569,229 (GRCm39) |
missense |
probably benign |
0.00 |
R9272:Pcdhb12
|
UTSW |
18 |
37,570,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R9782:Pcdhb12
|
UTSW |
18 |
37,570,393 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGTCTGGGATTTGGGCACAC -3'
(R):5'- TCTGTAGCCTTGAGCAGTTGGAATG -3'
Sequencing Primer
(F):5'- CCATAACAGTGCAGGTGGC -3'
(R):5'- TGGGCAATAGCTCCGTACAG -3'
|
Posted On |
2013-11-07 |