Incidental Mutation 'R6270:Pcdhb12'
| ID |
507302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb12
|
| Ensembl Gene |
ENSMUSG00000043458 |
| Gene Name |
protocadherin beta 12 |
| Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
| MMRRC Submission |
044441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37569838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 328
(Q328L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y07 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055495
AA Change: Q328L
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: Q328L
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,242,933 (GRCm39) |
E648G |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,734,960 (GRCm39) |
H642R |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,756,239 (GRCm39) |
E53G |
probably damaging |
Het |
| Ark2n |
T |
C |
18: 77,762,117 (GRCm39) |
D65G |
probably damaging |
Het |
| Ddr2 |
T |
G |
1: 169,816,109 (GRCm39) |
T533P |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,690,431 (GRCm39) |
S197P |
possibly damaging |
Het |
| Dolpp1 |
C |
A |
2: 30,282,281 (GRCm39) |
|
probably benign |
Het |
| Eng |
A |
G |
2: 32,563,655 (GRCm39) |
D347G |
probably benign |
Het |
| Esrra |
C |
T |
19: 6,891,488 (GRCm39) |
|
probably null |
Het |
| Fap |
T |
C |
2: 62,378,132 (GRCm39) |
I159V |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,676,434 (GRCm39) |
C599Y |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,587,807 (GRCm39) |
V395A |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,354,676 (GRCm39) |
R163G |
probably damaging |
Het |
| Gphn |
T |
G |
12: 78,569,724 (GRCm39) |
L306R |
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,295,902 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,295,295 (GRCm39) |
D62G |
possibly damaging |
Het |
| Hdac7 |
AGGG |
AGGGG |
15: 97,706,376 (GRCm39) |
|
probably null |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Kit |
A |
G |
5: 75,770,169 (GRCm39) |
T194A |
probably benign |
Het |
| Krt16 |
C |
A |
11: 100,138,029 (GRCm39) |
A316S |
possibly damaging |
Het |
| Krt7 |
A |
G |
15: 101,317,439 (GRCm39) |
D244G |
probably damaging |
Het |
| Lhfpl3 |
T |
A |
5: 23,478,349 (GRCm39) |
Y77* |
probably null |
Het |
| Lrrc18 |
A |
T |
14: 32,731,078 (GRCm39) |
M206L |
probably benign |
Het |
| Magel2 |
C |
A |
7: 62,030,406 (GRCm39) |
C1103* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 13,068,701 (GRCm39) |
V1058A |
probably damaging |
Het |
| Nbas |
G |
A |
12: 13,374,294 (GRCm39) |
A541T |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,308,630 (GRCm39) |
M1485I |
probably benign |
Het |
| Nudt18 |
T |
C |
14: 70,816,830 (GRCm39) |
Y145H |
probably benign |
Het |
| Or51b6b |
T |
C |
7: 103,309,620 (GRCm39) |
Y279C |
possibly damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,538 (GRCm39) |
L11P |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,782 (GRCm39) |
C97S |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,146,884 (GRCm39) |
W431R |
probably damaging |
Het |
| Pga5 |
T |
C |
19: 10,652,225 (GRCm39) |
E139G |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,705,306 (GRCm39) |
S210* |
probably null |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,498,074 (GRCm39) |
M27L |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,825,170 (GRCm39) |
S200P |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,568,452 (GRCm39) |
D174G |
probably damaging |
Het |
| Sult1b1 |
A |
T |
5: 87,665,413 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,725 (GRCm39) |
I342M |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,820,429 (GRCm39) |
T136M |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,352,773 (GRCm39) |
T1008A |
possibly damaging |
Het |
| Tgif1 |
T |
C |
17: 71,151,861 (GRCm39) |
|
probably null |
Het |
| Trav15-2-dv6-2 |
A |
G |
14: 53,887,323 (GRCm39) |
D81G |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,651,293 (GRCm39) |
H251L |
possibly damaging |
Het |
| Ttc14 |
C |
A |
3: 33,854,537 (GRCm39) |
T37K |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,159 (GRCm39) |
I662L |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,649 (GRCm39) |
I847V |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,771,436 (GRCm39) |
T30A |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,957,580 (GRCm39) |
V163M |
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 |
|
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'- TGCCACGGACTTAGATGCTG -3'
(R):5'- ATTCTCAAATGTGGGTTTCAGGAG -3'
Sequencing Primer
(F):5'- CACGGACTTAGATGCTGGGATATATG -3'
(R):5'- CTCAAATGTGGGTTTCAGGAGAAATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation