Incidental Mutation 'R4904:Pcdhb12'
ID |
378073 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb12
|
Ensembl Gene |
ENSMUSG00000043458 |
Gene Name |
protocadherin beta 12 |
Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
MMRRC Submission |
042507-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R4904 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37570909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 685
(V685A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000056915]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q91Y07 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055495
AA Change: V685A
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000050357 Gene: ENSMUSG00000043458 AA Change: V685A
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 |
|
Meta Mutation Damage Score |
0.0725 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
94% (82/87) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
T |
G |
4: 129,906,332 (GRCm39) |
I920S |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,871,786 (GRCm39) |
I556T |
probably benign |
Het |
Ankfy1 |
C |
A |
11: 72,642,931 (GRCm39) |
H665N |
probably benign |
Het |
Aqp9 |
A |
C |
9: 71,069,685 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,854,872 (GRCm39) |
S1497P |
probably benign |
Het |
Armc7 |
A |
G |
11: 115,379,800 (GRCm39) |
D166G |
probably damaging |
Het |
Arrdc1 |
C |
A |
2: 24,816,676 (GRCm39) |
V167F |
possibly damaging |
Het |
Col6a3 |
A |
T |
1: 90,729,164 (GRCm39) |
I1259N |
probably damaging |
Het |
Coq8a |
C |
T |
1: 180,006,168 (GRCm39) |
R207Q |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dcbld1 |
C |
T |
10: 52,196,066 (GRCm39) |
Q425* |
probably null |
Het |
Def8 |
A |
G |
8: 124,188,219 (GRCm39) |
N445D |
probably damaging |
Het |
Dicer1 |
C |
T |
12: 104,679,325 (GRCm39) |
V551I |
probably benign |
Het |
Dst |
A |
T |
1: 34,208,879 (GRCm39) |
T800S |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,300,457 (GRCm39) |
C136S |
probably damaging |
Het |
Duox1 |
T |
A |
2: 122,151,345 (GRCm39) |
Y310N |
probably damaging |
Het |
Duxf1 |
T |
A |
10: 58,059,309 (GRCm39) |
R482* |
probably null |
Het |
Ebf1 |
T |
C |
11: 44,759,996 (GRCm39) |
F211S |
probably damaging |
Het |
Gm44501 |
A |
T |
17: 40,889,884 (GRCm39) |
I133F |
possibly damaging |
Het |
Gm6625 |
T |
C |
8: 89,873,379 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
A |
T |
16: 36,713,748 (GRCm39) |
D243V |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtf2a1l |
G |
A |
17: 88,997,471 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,807,234 (GRCm39) |
F2471L |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,892,037 (GRCm39) |
I109N |
probably damaging |
Het |
Hrg |
A |
G |
16: 22,770,000 (GRCm39) |
E43G |
probably benign |
Het |
Hspa1a |
T |
C |
17: 35,189,427 (GRCm39) |
D492G |
probably damaging |
Het |
Itgb8 |
T |
C |
12: 119,134,606 (GRCm39) |
D487G |
probably benign |
Het |
Jag1 |
A |
G |
2: 136,929,062 (GRCm39) |
V798A |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,494,324 (GRCm39) |
V501A |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,916,396 (GRCm39) |
V743A |
possibly damaging |
Het |
Ly86 |
G |
T |
13: 37,599,496 (GRCm39) |
V126F |
possibly damaging |
Het |
Med26 |
A |
T |
8: 73,250,691 (GRCm39) |
L136H |
probably damaging |
Het |
Mpp3 |
T |
C |
11: 101,891,413 (GRCm39) |
D575G |
probably benign |
Het |
Myoc |
G |
A |
1: 162,466,994 (GRCm39) |
M54I |
probably benign |
Het |
Nlrp1c-ps |
A |
G |
11: 71,133,454 (GRCm39) |
|
noncoding transcript |
Het |
Or10v9 |
C |
T |
19: 11,833,231 (GRCm39) |
V29M |
possibly damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,272 (GRCm39) |
Y190C |
probably damaging |
Het |
Or5v1b |
A |
G |
17: 37,841,522 (GRCm39) |
Y218C |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,925,267 (GRCm39) |
D678E |
probably benign |
Het |
Pcdhga2 |
A |
G |
18: 37,802,932 (GRCm39) |
T259A |
possibly damaging |
Het |
Pde6a |
A |
T |
18: 61,398,105 (GRCm39) |
M702L |
probably benign |
Het |
Pigq |
A |
G |
17: 26,150,034 (GRCm39) |
|
probably benign |
Het |
Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
Ptch1 |
A |
C |
13: 63,670,818 (GRCm39) |
I904S |
probably damaging |
Het |
Rflnb |
A |
T |
11: 75,912,964 (GRCm39) |
C141* |
probably null |
Het |
Rilpl1 |
C |
A |
5: 124,652,807 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
C |
14: 52,358,544 (GRCm39) |
S217P |
possibly damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,397,586 (GRCm39) |
I1292F |
probably damaging |
Het |
Sema3a |
A |
C |
5: 13,631,066 (GRCm39) |
Y534S |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,866,080 (GRCm39) |
Y736C |
probably damaging |
Het |
Shank1 |
G |
T |
7: 43,983,464 (GRCm39) |
|
probably benign |
Het |
Slc45a4 |
G |
A |
15: 73,458,691 (GRCm39) |
S294F |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,313,316 (GRCm39) |
I393V |
possibly damaging |
Het |
Sod1 |
T |
A |
16: 90,019,732 (GRCm39) |
F46Y |
probably damaging |
Het |
Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
Syn3 |
T |
G |
10: 86,302,950 (GRCm39) |
K68N |
possibly damaging |
Het |
Taar8c |
C |
T |
10: 23,977,147 (GRCm39) |
V222I |
probably benign |
Het |
Tbx20 |
T |
C |
9: 24,670,129 (GRCm39) |
K235E |
probably damaging |
Het |
Tcaf3 |
C |
A |
6: 42,570,931 (GRCm39) |
E274* |
probably null |
Het |
Tll1 |
A |
T |
8: 64,523,233 (GRCm39) |
M493K |
probably benign |
Het |
Tmem236 |
T |
A |
2: 14,200,803 (GRCm39) |
S123T |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,238,963 (GRCm39) |
V647A |
possibly damaging |
Het |
Tspear |
T |
A |
10: 77,705,489 (GRCm39) |
Y296N |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,882,015 (GRCm39) |
K1187E |
probably damaging |
Het |
Xpot |
C |
T |
10: 121,453,083 (GRCm39) |
V52I |
probably benign |
Het |
Zdhhc3 |
A |
T |
9: 122,929,452 (GRCm39) |
V61E |
probably damaging |
Het |
Zfp955a |
A |
T |
17: 33,461,162 (GRCm39) |
C323* |
probably null |
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 |
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'- CAACTGCTCAAGGCTACAGAG -3'
(R):5'- CCTCATATTGATAGCTCTGGGAC -3'
Sequencing Primer
(F):5'- ACCAGGCTGCTGAGTGAG -3'
(R):5'- CAGGGTCCCTGCTCTACTGAC -3'
|
Posted On |
2016-04-15 |