Incidental Mutation 'R0531:Pcdhb12'
| ID |
49200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb12
|
| Ensembl Gene |
ENSMUSG00000043458 |
| Gene Name |
protocadherin beta 12 |
| Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
| MMRRC Submission |
038723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37570371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 506
(F506I)
|
| 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: F506I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: F506I
| 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 |
0.2368 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,892,127 (GRCm39) |
N130D |
probably benign |
Het |
| Acot6 |
C |
A |
12: 84,148,075 (GRCm39) |
D110E |
probably benign |
Het |
| Agrn |
T |
A |
4: 156,263,891 (GRCm39) |
N124I |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,427,959 (GRCm39) |
G710V |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,220,148 (GRCm39) |
V15A |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,840,280 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,090,974 (GRCm39) |
I743N |
probably damaging |
Het |
| Cenpa |
T |
C |
5: 30,829,837 (GRCm39) |
F39L |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,221,789 (GRCm39) |
M1L |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,122,541 (GRCm39) |
I107M |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,277,351 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,889,787 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
A |
G |
2: 24,974,781 (GRCm39) |
Y404C |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,932,633 (GRCm39) |
I125T |
possibly damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,298 (GRCm39) |
E159K |
possibly damaging |
Het |
| Fkbp5 |
A |
T |
17: 28,657,003 (GRCm39) |
H71Q |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,427,375 (GRCm39) |
Y2926N |
probably damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,691 (GRCm39) |
D23E |
probably damaging |
Het |
| Glt8d1 |
T |
C |
14: 30,728,461 (GRCm39) |
F3S |
probably benign |
Het |
| Gm11555 |
C |
T |
11: 99,540,844 (GRCm39) |
|
probably benign |
Het |
| Gtpbp1 |
G |
A |
15: 79,604,292 (GRCm39) |
G667S |
probably damaging |
Het |
| H2-T24 |
A |
C |
17: 36,326,463 (GRCm39) |
S145R |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,689,249 (GRCm39) |
N843I |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,139,620 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
T |
A |
15: 101,909,883 (GRCm39) |
M174L |
probably benign |
Het |
| Ktn1 |
C |
T |
14: 47,901,398 (GRCm39) |
T52I |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,305,523 (GRCm39) |
|
probably benign |
Het |
| Nefh |
G |
A |
11: 4,890,240 (GRCm39) |
A793V |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,593,835 (GRCm39) |
V840A |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,356,584 (GRCm39) |
S1678P |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,009,767 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 88,762,112 (GRCm39) |
F53S |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,168 (GRCm39) |
T49A |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,488,674 (GRCm39) |
I151V |
probably benign |
Het |
| Or5ac25 |
T |
A |
16: 59,182,171 (GRCm39) |
N137Y |
probably damaging |
Het |
| Or6z5 |
A |
T |
7: 6,477,234 (GRCm39) |
I42F |
possibly damaging |
Het |
| Or8g17 |
G |
T |
9: 38,930,472 (GRCm39) |
R122S |
probably damaging |
Het |
| Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pak4 |
T |
A |
7: 28,267,479 (GRCm39) |
I62F |
possibly damaging |
Het |
| Per1 |
A |
T |
11: 68,995,016 (GRCm39) |
D632V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,498 (GRCm39) |
M2678T |
probably benign |
Het |
| Plg |
A |
G |
17: 12,630,334 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
T |
7: 44,627,048 (GRCm39) |
S304R |
probably damaging |
Het |
| Prr27 |
T |
C |
5: 87,990,537 (GRCm39) |
F50L |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,984,117 (GRCm39) |
L159P |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,481 (GRCm39) |
N432K |
possibly damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,020,621 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,426 (GRCm39) |
D1170V |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,762,351 (GRCm39) |
|
probably null |
Het |
| Sall4 |
C |
T |
2: 168,598,256 (GRCm39) |
A195T |
probably benign |
Het |
| Sbf2 |
G |
A |
7: 109,966,530 (GRCm39) |
|
probably benign |
Het |
| Scaper |
A |
T |
9: 55,517,158 (GRCm39) |
D599E |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,876 (GRCm39) |
S484N |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,962,761 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,031,166 (GRCm39) |
T623A |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,539,090 (GRCm39) |
D95G |
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,451 (GRCm39) |
D660G |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,336,077 (GRCm39) |
F73S |
possibly damaging |
Het |
| Slfn5 |
A |
T |
11: 82,851,866 (GRCm39) |
Q664L |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,624,375 (GRCm39) |
I512V |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,797 (GRCm39) |
T133A |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,836,300 (GRCm39) |
*175W |
probably null |
Het |
| Stk32c |
C |
A |
7: 138,700,636 (GRCm39) |
V316F |
probably damaging |
Het |
| Tekt1 |
A |
C |
11: 72,236,420 (GRCm39) |
N347K |
possibly damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,776,786 (GRCm39) |
C498S |
probably damaging |
Het |
| Tra2b |
G |
A |
16: 22,065,955 (GRCm39) |
R281* |
probably null |
Het |
| Ubr5 |
A |
T |
15: 37,991,588 (GRCm39) |
I1985N |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,175,378 (GRCm39) |
S1159A |
probably benign |
Het |
| Vmn1r15 |
C |
T |
6: 57,235,236 (GRCm39) |
P35S |
probably benign |
Het |
| Vmn1r6 |
A |
T |
6: 56,979,583 (GRCm39) |
I60L |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,278,561 (GRCm39) |
|
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,874,272 (GRCm39) |
V113A |
possibly 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAGAGCTGAGTACAACATCACC -3'
(R):5'- CCTTGAGCAGTTGGAATGACAGCC -3'
Sequencing Primer
(F):5'- ACCATCACTGTCTGGGATTTG -3'
(R):5'- TGGGCAATAGCTCCGTACAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation