Incidental Mutation 'IGL01834:Pcdhb12'
| ID |
154868 |
| 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 # |
IGL01834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37570692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 613
(N613Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000056915]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055495
AA Change: N613Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: N613Y
| 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: ENSMUST00000056915
|
| SMART Domains |
Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
| 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 |
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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,348,183 (GRCm39) |
I634V |
possibly damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,234,595 (GRCm39) |
|
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,489 (GRCm39) |
Q243L |
probably benign |
Het |
| C2cd6 |
G |
A |
1: 59,036,604 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,137,251 (GRCm39) |
|
probably null |
Het |
| Cd2ap |
T |
A |
17: 43,137,252 (GRCm39) |
|
probably null |
Het |
| Cd86 |
G |
A |
16: 36,427,481 (GRCm39) |
R283W |
probably benign |
Het |
| CK137956 |
T |
A |
4: 127,840,442 (GRCm39) |
K421N |
probably damaging |
Het |
| Coro2b |
G |
A |
9: 62,338,639 (GRCm39) |
T193I |
possibly damaging |
Het |
| Dido1 |
G |
A |
2: 180,325,824 (GRCm39) |
|
probably benign |
Het |
| Fas |
A |
G |
19: 34,296,003 (GRCm39) |
T149A |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,273,468 (GRCm39) |
I121F |
probably damaging |
Het |
| Hes3 |
C |
T |
4: 152,371,557 (GRCm39) |
A106T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,105 (GRCm39) |
Y253H |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,802,731 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
C |
A |
1: 134,417,158 (GRCm39) |
R557S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,600,453 (GRCm39) |
T315A |
probably benign |
Het |
| Mchr1 |
A |
G |
15: 81,122,066 (GRCm39) |
Y272C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,538,071 (GRCm39) |
I1202V |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,026,140 (GRCm39) |
K87* |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,293,140 (GRCm39) |
T632A |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,808,962 (GRCm39) |
I1767T |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,807,901 (GRCm39) |
H1630Q |
possibly damaging |
Het |
| Naprt |
A |
G |
15: 75,765,648 (GRCm39) |
F92S |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,668 (GRCm39) |
I11N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,860 (GRCm39) |
Y291C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,556,564 (GRCm39) |
T306A |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,711,279 (GRCm39) |
F12S |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,925,446 (GRCm39) |
I731T |
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,046,832 (GRCm39) |
T465I |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,454,773 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,610,311 (GRCm39) |
I607L |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,720,073 (GRCm39) |
|
probably benign |
Het |
| Srek1 |
C |
A |
13: 103,885,293 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,147 (GRCm39) |
T377A |
possibly damaging |
Het |
| Sympk |
G |
T |
7: 18,777,360 (GRCm39) |
A537S |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,739,898 (GRCm39) |
S518P |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,475 (GRCm39) |
K45E |
probably benign |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,554 (GRCm39) |
F124L |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,061,576 (GRCm39) |
Y133H |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,354 (GRCm39) |
E578D |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,567,133 (GRCm39) |
|
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,811,371 (GRCm39) |
N510D |
probably benign |
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 |
|
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 |
2014-02-04 |
Incidental Mutation