Incidental Mutation 'IGL01893:Pcdhb12'
| ID |
179282 |
| 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 # |
IGL01893
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37570263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 470
(S470A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055495
AA Change: S470A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: S470A
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
A |
3: 116,582,198 (GRCm39) |
I275F |
probably damaging |
Het |
| Avil |
G |
A |
10: 126,856,415 (GRCm39) |
E815K |
possibly damaging |
Het |
| Car9 |
T |
A |
4: 43,510,252 (GRCm39) |
I278N |
probably damaging |
Het |
| Cast |
T |
A |
13: 74,875,408 (GRCm39) |
K480* |
probably null |
Het |
| Cenpj |
A |
G |
14: 56,790,931 (GRCm39) |
F373L |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,204,366 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
G |
A |
14: 87,156,288 (GRCm39) |
T675I |
possibly damaging |
Het |
| Dip2b |
A |
T |
15: 100,069,101 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,988,427 (GRCm39) |
D3425G |
probably damaging |
Het |
| Dolk |
A |
G |
2: 30,175,926 (GRCm39) |
Y40H |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,866,736 (GRCm39) |
|
probably benign |
Het |
| Dusp15 |
A |
G |
2: 152,790,956 (GRCm39) |
|
probably null |
Het |
| Edrf1 |
T |
C |
7: 133,258,831 (GRCm39) |
F770L |
probably benign |
Het |
| Gabra1 |
T |
C |
11: 42,024,586 (GRCm39) |
K363R |
possibly damaging |
Het |
| Glipr1l1 |
A |
C |
10: 111,912,074 (GRCm39) |
T203P |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H2-Q10 |
T |
C |
17: 35,784,168 (GRCm39) |
S270P |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,330 (GRCm39) |
M313K |
probably benign |
Het |
| Htt |
T |
A |
5: 35,034,174 (GRCm39) |
I1920N |
probably damaging |
Het |
| Lsr |
A |
T |
7: 30,661,657 (GRCm39) |
V210E |
possibly damaging |
Het |
| Mbtd1 |
A |
T |
11: 93,812,238 (GRCm39) |
I181L |
probably null |
Het |
| Mettl16 |
A |
T |
11: 74,696,097 (GRCm39) |
T273S |
possibly damaging |
Het |
| Mlst8 |
T |
C |
17: 24,696,961 (GRCm39) |
N74D |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,383,174 (GRCm39) |
I102T |
probably damaging |
Het |
| Nme7 |
C |
T |
1: 164,172,850 (GRCm39) |
A187V |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,611,564 (GRCm39) |
W261R |
probably damaging |
Het |
| Or12e13 |
G |
T |
2: 87,664,207 (GRCm39) |
G275* |
probably null |
Het |
| Or2h2 |
A |
G |
17: 37,396,760 (GRCm39) |
L99P |
probably damaging |
Het |
| Or4f14 |
A |
T |
2: 111,742,589 (GRCm39) |
S229T |
possibly damaging |
Het |
| Orc6 |
A |
G |
8: 86,034,272 (GRCm39) |
D165G |
probably damaging |
Het |
| Ovca2 |
A |
G |
11: 75,069,133 (GRCm39) |
S89P |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,122,932 (GRCm39) |
T397A |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,860,337 (GRCm39) |
L50P |
probably damaging |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Serpinb11 |
C |
A |
1: 107,305,387 (GRCm39) |
S254R |
probably benign |
Het |
| Serpinb11 |
C |
A |
1: 107,305,388 (GRCm39) |
Q255K |
probably benign |
Het |
| Skap2 |
T |
C |
6: 51,851,556 (GRCm39) |
T79A |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Tbx19 |
A |
T |
1: 164,967,767 (GRCm39) |
S327T |
possibly damaging |
Het |
| Themis3 |
A |
G |
17: 66,866,622 (GRCm39) |
L206P |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,540,093 (GRCm39) |
L373Q |
possibly damaging |
Het |
| Unc13c |
G |
T |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,497,730 (GRCm39) |
M503K |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r33 |
A |
G |
7: 7,566,776 (GRCm39) |
I112T |
probably benign |
Het |
| Vps13a |
A |
C |
19: 16,641,139 (GRCm39) |
W2328G |
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 |
|
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 |
2014-05-07 |
Incidental Mutation