Incidental Mutation 'R9782:Pcdhb12'
| ID |
734143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb12
|
| Ensembl Gene |
ENSMUSG00000043458 |
| Gene Name |
protocadherin beta 12 |
| Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R9782 (G1)
|
| Quality Score |
213.468 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AT to A
at 37570393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y07 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055495
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,053,796 (GRCm39) |
M1K |
probably null |
Het |
| Atoh8 |
A |
T |
6: 72,200,848 (GRCm39) |
L281M |
possibly damaging |
Het |
| Bckdha |
A |
G |
7: 25,340,880 (GRCm39) |
|
probably null |
Het |
| Chil6 |
A |
T |
3: 106,296,121 (GRCm39) |
Y371* |
probably null |
Het |
| Cilk1 |
A |
T |
9: 78,048,520 (GRCm39) |
Q108L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,522,376 (GRCm39) |
H164Q |
probably benign |
Het |
| Gucd1 |
T |
G |
10: 75,345,650 (GRCm39) |
D135A |
probably benign |
Het |
| Hacd1 |
A |
G |
2: 14,040,751 (GRCm39) |
I168T |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,021,896 (GRCm39) |
E1013G |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 105,999,217 (GRCm39) |
|
probably null |
Het |
| Ift140 |
G |
T |
17: 25,264,151 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
| Imp4 |
T |
A |
1: 34,482,901 (GRCm39) |
L164Q |
probably damaging |
Het |
| Jazf1 |
C |
T |
6: 52,747,311 (GRCm39) |
V204I |
probably benign |
Het |
| Kmt2d |
T |
A |
15: 98,764,597 (GRCm39) |
D2V |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,899,910 (GRCm39) |
V537A |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,208,720 (GRCm39) |
D32V |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,306,066 (GRCm39) |
|
probably null |
Het |
| Morn3 |
C |
T |
5: 123,175,822 (GRCm39) |
V189M |
probably damaging |
Het |
| Mri1 |
C |
T |
8: 84,980,933 (GRCm39) |
C199Y |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,713,293 (GRCm39) |
M490T |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,548,066 (GRCm39) |
T6076A |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,549,273 (GRCm39) |
E113G |
probably damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,052 (GRCm39) |
V157D |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,214,192 (GRCm39) |
V449A |
probably damaging |
Het |
| Ogdhl |
C |
T |
14: 32,061,909 (GRCm39) |
T528M |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,835 (GRCm39) |
V303M |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,067 (GRCm39) |
V166A |
probably damaging |
Het |
| Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,516,237 (GRCm39) |
V562G |
possibly damaging |
Het |
| Plxna1 |
C |
A |
6: 89,333,817 (GRCm39) |
A271S |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,766 (GRCm39) |
S716N |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,271,762 (GRCm39) |
G256S |
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,164,331 (GRCm39) |
M127K |
probably benign |
Het |
| Psmf1 |
T |
C |
2: 151,577,533 (GRCm39) |
D48G |
possibly damaging |
Het |
| Rabggta |
T |
A |
14: 55,955,944 (GRCm39) |
M438L |
possibly damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,113 (GRCm39) |
E297G |
probably damaging |
Het |
| Rras |
A |
T |
7: 44,669,945 (GRCm39) |
I126F |
probably damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,041,813 (GRCm39) |
R465G |
probably null |
Het |
| Slc28a2b |
T |
A |
2: 122,352,338 (GRCm39) |
I365N |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,340,172 (GRCm39) |
T437A |
probably benign |
Het |
| Son |
A |
T |
16: 91,444,838 (GRCm39) |
S15C |
probably damaging |
Het |
| Spata31e1 |
C |
T |
13: 49,939,542 (GRCm39) |
V723M |
possibly damaging |
Het |
| Sptbn4 |
G |
T |
7: 27,107,993 (GRCm39) |
Q810K |
probably benign |
Het |
| Tmtc2 |
T |
C |
10: 105,026,062 (GRCm39) |
Y802C |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,758,716 (GRCm39) |
M2181K |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,530,767 (GRCm39) |
S282P |
probably damaging |
Het |
| Zbtb7a |
G |
A |
10: 80,979,910 (GRCm39) |
D35N |
probably damaging |
Het |
| Zc3h3 |
C |
A |
15: 75,681,489 (GRCm39) |
V531L |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,514 (GRCm39) |
D2249G |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 74,520,932 (GRCm39) |
K49E |
probably benign |
Het |
| Zfp942 |
T |
C |
17: 22,147,463 (GRCm39) |
T389A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTATACCCTGTTTGTGCAAG -3'
(R):5'- TGGTGATCAGGTATCCAGGC -3'
Sequencing Primer
(F):5'- CCCTGTTTGTGCAAGAGAAC -3'
(R):5'- TGATCAGGTATCCAGGCTCTGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation