Incidental Mutation 'IGL01309:Pcdhb12'
ID |
73569 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pcdhb12
|
Ensembl Gene |
ENSMUSG00000043458 |
Gene Name |
protocadherin beta 12 |
Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL01309
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37569207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 118
(D118Y)
|
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: D118Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050357 Gene: ENSMUSG00000043458 AA Change: D118Y
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610318N02Rik |
A |
G |
16: 16,931,410 (GRCm39) |
V275A |
possibly damaging |
Het |
Adamts2 |
A |
G |
11: 50,694,528 (GRCm39) |
D1105G |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,151,352 (GRCm39) |
M195L |
possibly damaging |
Het |
Adrm1 |
A |
G |
2: 179,817,756 (GRCm39) |
|
probably benign |
Het |
Atg13 |
T |
A |
2: 91,509,176 (GRCm39) |
I457F |
possibly damaging |
Het |
BC034090 |
T |
C |
1: 155,102,130 (GRCm39) |
N45D |
probably damaging |
Het |
C3 |
C |
T |
17: 57,516,652 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
G |
A |
8: 85,249,657 (GRCm39) |
G221D |
probably damaging |
Het |
Calr |
A |
G |
8: 85,573,335 (GRCm39) |
|
probably null |
Het |
Chd3 |
C |
T |
11: 69,248,557 (GRCm39) |
V825I |
probably damaging |
Het |
Chdh |
T |
G |
14: 29,757,761 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
T |
C |
2: 91,400,529 (GRCm39) |
V627A |
probably damaging |
Het |
Commd3 |
A |
G |
2: 18,677,289 (GRCm39) |
E5G |
probably benign |
Het |
Ddi1 |
T |
C |
9: 6,265,773 (GRCm39) |
R199G |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,723,724 (GRCm39) |
|
probably benign |
Het |
Dok7 |
G |
A |
5: 35,236,912 (GRCm39) |
G293D |
possibly damaging |
Het |
Epm2aip1 |
T |
C |
9: 111,102,596 (GRCm39) |
V523A |
probably benign |
Het |
Fam171b |
C |
T |
2: 83,709,791 (GRCm39) |
Q488* |
probably null |
Het |
Gabbr1 |
G |
A |
17: 37,359,499 (GRCm39) |
|
probably null |
Het |
Gm5965 |
T |
G |
16: 88,575,219 (GRCm39) |
S131A |
possibly damaging |
Het |
Gpcpd1 |
T |
C |
2: 132,392,244 (GRCm39) |
D235G |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,767,207 (GRCm39) |
K111* |
probably null |
Het |
Itih4 |
G |
T |
14: 30,613,706 (GRCm39) |
D308Y |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,633,314 (GRCm39) |
Y266H |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,953,663 (GRCm39) |
L783P |
probably damaging |
Het |
Map4k5 |
T |
C |
12: 69,888,737 (GRCm39) |
D298G |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,849,423 (GRCm39) |
F712L |
probably damaging |
Het |
Mcoln2 |
T |
C |
3: 145,869,282 (GRCm39) |
|
probably benign |
Het |
Megf11 |
T |
A |
9: 64,588,698 (GRCm39) |
S532R |
probably benign |
Het |
Mkx |
T |
C |
18: 6,937,192 (GRCm39) |
D284G |
probably benign |
Het |
Mmp16 |
A |
G |
4: 18,116,185 (GRCm39) |
I596M |
probably damaging |
Het |
Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
Mtmr9 |
A |
G |
14: 63,764,254 (GRCm39) |
L491P |
probably damaging |
Het |
Or4a66 |
T |
G |
2: 88,531,310 (GRCm39) |
Y121S |
probably damaging |
Het |
Or8b52 |
T |
A |
9: 38,576,289 (GRCm39) |
I284L |
probably benign |
Het |
Or9s13 |
T |
C |
1: 92,548,057 (GRCm39) |
M143T |
probably damaging |
Het |
Otor |
T |
C |
2: 142,920,532 (GRCm39) |
V38A |
possibly damaging |
Het |
Prelp |
T |
C |
1: 133,842,545 (GRCm39) |
H200R |
probably benign |
Het |
Prmt5 |
T |
C |
14: 54,747,334 (GRCm39) |
Y481C |
probably damaging |
Het |
Psg23 |
T |
G |
7: 18,348,465 (GRCm39) |
D114A |
probably damaging |
Het |
Ptger4 |
A |
T |
15: 5,272,239 (GRCm39) |
Y127N |
probably damaging |
Het |
Rabgap1l |
C |
A |
1: 160,528,368 (GRCm39) |
V385L |
probably benign |
Het |
Rergl |
T |
A |
6: 139,470,256 (GRCm39) |
K191* |
probably null |
Het |
Sart3 |
A |
G |
5: 113,897,311 (GRCm39) |
F252S |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,519,769 (GRCm39) |
S1169T |
probably benign |
Het |
Serpinb8 |
C |
T |
1: 107,532,448 (GRCm39) |
T180M |
probably damaging |
Het |
Sipa1l1 |
G |
A |
12: 82,434,470 (GRCm39) |
E747K |
probably benign |
Het |
Sptb |
T |
A |
12: 76,634,237 (GRCm39) |
D2158V |
probably benign |
Het |
Sycp2 |
T |
G |
2: 177,999,904 (GRCm39) |
D1024A |
probably benign |
Het |
Tbr1 |
T |
G |
2: 61,636,411 (GRCm39) |
N262K |
possibly damaging |
Het |
Tnrc6a |
A |
T |
7: 122,770,717 (GRCm39) |
I836F |
probably benign |
Het |
Ttn |
T |
C |
2: 76,769,091 (GRCm39) |
E2823G |
probably damaging |
Het |
Uqcrc1 |
T |
A |
9: 108,778,026 (GRCm39) |
L441Q |
possibly damaging |
Het |
Vmn1r180 |
T |
C |
7: 23,652,424 (GRCm39) |
F196L |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,787,997 (GRCm39) |
I451M |
possibly damaging |
Het |
Zcchc7 |
A |
T |
4: 44,926,060 (GRCm39) |
H353L |
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 |
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 |
R0882:Pcdhb12
|
UTSW |
18 |
37,570,375 (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 |
|
|
Posted On |
2013-10-07 |