Incidental Mutation 'R0571:Pcdhb12'
| ID |
46495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb12
|
| Ensembl Gene |
ENSMUSG00000043458 |
| Gene Name |
protocadherin beta 12 |
| Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
| MMRRC Submission |
038762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0571 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37570261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 469
(D469V)
|
| 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: D469V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: D469V
| 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 |
|
| Meta Mutation Damage Score |
0.1161 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
C |
T |
14: 54,500,706 (GRCm39) |
T165I |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,277,343 (GRCm39) |
|
probably benign |
Het |
| Actl6b |
C |
A |
5: 137,565,046 (GRCm39) |
|
probably benign |
Het |
| Atg13 |
T |
C |
2: 91,509,063 (GRCm39) |
|
probably benign |
Het |
| Cabyr |
A |
G |
18: 12,883,909 (GRCm39) |
E132G |
probably damaging |
Het |
| Cadps2 |
C |
T |
6: 23,583,411 (GRCm39) |
V389I |
probably damaging |
Het |
| Capn2 |
C |
T |
1: 182,298,325 (GRCm39) |
V647I |
probably benign |
Het |
| Card10 |
G |
T |
15: 78,671,601 (GRCm39) |
P621Q |
possibly damaging |
Het |
| Catsperb |
C |
G |
12: 101,569,033 (GRCm39) |
H902D |
possibly damaging |
Het |
| Cers3 |
A |
G |
7: 66,435,805 (GRCm39) |
M255V |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,030,071 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
C |
11: 69,252,495 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
G |
T |
5: 24,795,425 (GRCm39) |
R316L |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,713,550 (GRCm39) |
N694Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,289,277 (GRCm39) |
D2909G |
unknown |
Het |
| Ctbp2 |
G |
A |
7: 132,616,534 (GRCm39) |
L44F |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,381,102 (GRCm39) |
M1365V |
probably benign |
Het |
| D130052B06Rik |
G |
A |
11: 33,573,922 (GRCm39) |
R173H |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,203 (GRCm39) |
F406L |
probably damaging |
Het |
| Ddx43 |
T |
A |
9: 78,321,145 (GRCm39) |
N384K |
possibly damaging |
Het |
| Drd5 |
G |
A |
5: 38,477,270 (GRCm39) |
V88M |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,274,881 (GRCm39) |
F361Y |
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,717,215 (GRCm39) |
D313G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,748,580 (GRCm39) |
M104T |
probably damaging |
Het |
| Fabp7 |
A |
T |
10: 57,661,637 (GRCm39) |
T37S |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,184,834 (GRCm39) |
T30A |
probably benign |
Het |
| Fam83d |
G |
A |
2: 158,627,611 (GRCm39) |
W433* |
probably null |
Het |
| Fmnl2 |
A |
T |
2: 52,944,503 (GRCm39) |
T161S |
probably benign |
Het |
| Ghsr |
C |
T |
3: 27,426,165 (GRCm39) |
R74C |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,722 (GRCm39) |
|
probably benign |
Het |
| Hamp2 |
A |
G |
7: 30,623,511 (GRCm39) |
L17P |
possibly damaging |
Het |
| Heatr1 |
C |
A |
13: 12,445,121 (GRCm39) |
S1581R |
probably damaging |
Het |
| Hpf1 |
T |
C |
8: 61,353,147 (GRCm39) |
V176A |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,240,735 (GRCm39) |
|
probably null |
Het |
| Ighg2c |
G |
A |
12: 113,252,382 (GRCm39) |
Q57* |
probably null |
Het |
| Itgb4 |
A |
G |
11: 115,870,594 (GRCm39) |
N141S |
possibly damaging |
Het |
| Kif13b |
G |
T |
14: 64,988,977 (GRCm39) |
R786L |
probably damaging |
Het |
| Lhx3 |
C |
A |
2: 26,091,136 (GRCm39) |
W391L |
probably damaging |
Het |
| Map1s |
T |
A |
8: 71,365,551 (GRCm39) |
V152D |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,865,834 (GRCm39) |
M608T |
probably benign |
Het |
| Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
| Mfn1 |
T |
C |
3: 32,615,621 (GRCm39) |
I328T |
probably damaging |
Het |
| Mif-ps9 |
G |
A |
19: 56,743,675 (GRCm39) |
|
noncoding transcript |
Het |
| Myh4 |
A |
T |
11: 67,141,157 (GRCm39) |
I740F |
possibly damaging |
Het |
| Neo1 |
A |
G |
9: 58,893,069 (GRCm39) |
V191A |
probably benign |
Het |
| Nfatc4 |
T |
C |
14: 56,067,485 (GRCm39) |
V565A |
probably damaging |
Het |
| Nrxn2 |
G |
C |
19: 6,523,563 (GRCm39) |
E525D |
probably damaging |
Het |
| Or12k8 |
T |
C |
2: 36,975,346 (GRCm39) |
H138R |
probably benign |
Het |
| Pcdhb6 |
G |
T |
18: 37,468,167 (GRCm39) |
V363L |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,808,957 (GRCm39) |
T78A |
probably benign |
Het |
| Primpol |
T |
G |
8: 47,034,674 (GRCm39) |
D418A |
probably damaging |
Het |
| Rbm12b1 |
G |
A |
4: 12,146,248 (GRCm39) |
S740N |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,305,986 (GRCm39) |
L15P |
probably damaging |
Het |
| Rxrb |
CGCGGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGCGGC |
17: 34,251,106 (GRCm39) |
|
probably benign |
Het |
| Sectm1a |
A |
G |
11: 120,959,928 (GRCm39) |
|
probably benign |
Het |
| Sft2d1 |
C |
A |
17: 8,545,782 (GRCm39) |
|
probably benign |
Het |
| Slc22a18 |
A |
G |
7: 143,045,598 (GRCm39) |
|
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,332,405 (GRCm39) |
|
probably null |
Het |
| Smc4 |
T |
C |
3: 68,931,622 (GRCm39) |
V572A |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,080,855 (GRCm39) |
I33N |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,458,403 (GRCm39) |
C678S |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,797,539 (GRCm39) |
V1362A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,570,326 (GRCm39) |
K25110E |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,148,793 (GRCm39) |
S15G |
possibly damaging |
Het |
| Upf3a |
T |
A |
8: 13,842,184 (GRCm39) |
I200K |
probably damaging |
Het |
| Vill |
G |
C |
9: 118,899,701 (GRCm39) |
G295A |
possibly damaging |
Het |
| Vmn1r191 |
A |
T |
13: 22,363,217 (GRCm39) |
V179D |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,629 (GRCm39) |
T670A |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,643,166 (GRCm39) |
T654A |
possibly damaging |
Het |
| Zfp646 |
A |
G |
7: 127,481,138 (GRCm39) |
E1105G |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,117,239 (GRCm39) |
Y334N |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAGAGCTGAGTACAACATCACC -3'
(R):5'- TTGTCATCTAGCACTACCACACGC -3'
Sequencing Primer
(F):5'- ACCATCACTGTCTGGGATTTG -3'
(R):5'- AGGTGAGCCTCCATCTGTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation