Incidental Mutation 'R7288:Pcdhb12'
| ID |
566197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb12
|
| Ensembl Gene |
ENSMUSG00000043458 |
| Gene Name |
protocadherin beta 12 |
| Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
| MMRRC Submission |
045395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R7288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37569068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 71
(D71E)
|
| 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: D71E
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: D71E
| 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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,771,131 (GRCm39) |
D204E |
probably benign |
Het |
| Adh1 |
T |
G |
3: 137,988,493 (GRCm39) |
D155E |
probably benign |
Het |
| Akt1s1 |
T |
C |
7: 44,498,571 (GRCm39) |
L2P |
unknown |
Het |
| Ash1l |
T |
A |
3: 88,873,199 (GRCm39) |
|
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,641 (GRCm39) |
P228S |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,824,585 (GRCm39) |
E218G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,479,001 (GRCm39) |
F127Y |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,846 (GRCm39) |
H168Q |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,847,093 (GRCm39) |
T1612I |
possibly damaging |
Het |
| Col4a4 |
A |
T |
1: 82,470,184 (GRCm39) |
C782S |
unknown |
Het |
| Copg2 |
T |
A |
6: 30,801,341 (GRCm39) |
I364L |
probably damaging |
Het |
| Crygb |
A |
G |
1: 65,121,084 (GRCm39) |
L81P |
probably benign |
Het |
| Cyp4f18 |
A |
T |
8: 72,747,017 (GRCm39) |
M326K |
probably damaging |
Het |
| Dhx34 |
A |
G |
7: 15,949,361 (GRCm39) |
S356P |
probably benign |
Het |
| Dmbt1 |
C |
T |
7: 130,685,519 (GRCm39) |
Q855* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,787,007 (GRCm39) |
T343A |
probably damaging |
Het |
| Dnph1 |
A |
G |
17: 46,809,938 (GRCm39) |
N160S |
probably benign |
Het |
| Esrra |
A |
T |
19: 6,890,139 (GRCm39) |
C228* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,114,775 (GRCm39) |
N972D |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,888 (GRCm39) |
D2038G |
probably damaging |
Het |
| Fhit |
T |
A |
14: 9,763,784 (GRCm38) |
R102W |
probably damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,948,609 (GRCm39) |
D272V |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,651 (GRCm39) |
V286D |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,206 (GRCm39) |
M185K |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,490,821 (GRCm39) |
I311V |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,442,630 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ighv7-3 |
C |
T |
12: 114,116,963 (GRCm39) |
W66* |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,016,142 (GRCm39) |
I975N |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,921,262 (GRCm39) |
E281G |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,365,523 (GRCm39) |
T1369S |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,812,382 (GRCm39) |
D84E |
probably benign |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,059 (GRCm39) |
C164F |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,725,180 (GRCm39) |
Y131C |
probably damaging |
Het |
| Nacc1 |
C |
T |
8: 85,403,174 (GRCm39) |
A234T |
probably benign |
Het |
| Nsmaf |
C |
T |
4: 6,416,641 (GRCm39) |
V551I |
probably benign |
Het |
| Or13a26 |
T |
A |
7: 140,284,942 (GRCm39) |
C259* |
probably null |
Het |
| Or7e175 |
T |
A |
9: 20,048,737 (GRCm39) |
Y108* |
probably null |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pkm |
A |
G |
9: 59,576,196 (GRCm39) |
S127G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,479,227 (GRCm39) |
L1296H |
probably damaging |
Het |
| Ppil6 |
C |
G |
10: 41,374,524 (GRCm39) |
T135R |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,004,203 (GRCm39) |
Y378C |
probably damaging |
Het |
| Rabep2 |
C |
T |
7: 126,043,377 (GRCm39) |
R426C |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,845,976 (GRCm39) |
H31Q |
possibly damaging |
Het |
| Rad50 |
G |
T |
11: 53,545,776 (GRCm39) |
Y1182* |
probably null |
Het |
| Serpinb9c |
C |
T |
13: 33,335,883 (GRCm39) |
A218T |
possibly damaging |
Het |
| Slc34a1 |
C |
A |
13: 24,003,095 (GRCm39) |
H248Q |
probably benign |
Het |
| Slc45a4 |
C |
A |
15: 73,458,785 (GRCm39) |
E255* |
probably null |
Het |
| Slc8a3 |
T |
A |
12: 81,263,598 (GRCm39) |
K596N |
possibly damaging |
Het |
| Tbc1d32 |
A |
C |
10: 55,927,483 (GRCm39) |
|
probably null |
Het |
| Tbl2 |
T |
A |
5: 135,183,253 (GRCm39) |
I112N |
possibly damaging |
Het |
| Tchp |
A |
C |
5: 114,853,630 (GRCm39) |
K238T |
probably damaging |
Het |
| Tfap2d |
G |
A |
1: 19,189,207 (GRCm39) |
G251D |
probably damaging |
Het |
| Thrb |
T |
A |
14: 18,030,186 (GRCm38) |
M324K |
probably damaging |
Het |
| Tmem259 |
A |
T |
10: 79,814,300 (GRCm39) |
L328Q |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,249,469 (GRCm39) |
H88R |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,709 (GRCm39) |
H107R |
possibly damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,471 (GRCm39) |
V347A |
probably benign |
Het |
| Ung |
T |
A |
5: 114,269,315 (GRCm39) |
L9* |
probably null |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,174 (GRCm39) |
V215F |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,065,286 (GRCm39) |
S1657P |
probably benign |
Het |
| Wdsub1 |
A |
T |
2: 59,708,487 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Zfp369 |
T |
G |
13: 65,432,832 (GRCm39) |
|
probably null |
Het |
| Zfp770 |
G |
T |
2: 114,026,142 (GRCm39) |
C642* |
probably null |
Het |
| Zfp981 |
C |
T |
4: 146,622,100 (GRCm39) |
R342C |
probably benign |
Het |
| Zhx3 |
A |
C |
2: 160,623,042 (GRCm39) |
V375G |
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 |
|
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 |
|
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'- TGAATCTGCACAACGGAGAC -3'
(R):5'- TTTCCGTGTCAGAGAACTCC -3'
Sequencing Primer
(F):5'- CAACGGAGACAGCGCTAGC -3'
(R):5'- CTCCGGAGAGTGGTCGTTTATATCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation