Incidental Mutation 'R3689:Pcdhb12'
| ID |
269695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb12
|
| Ensembl Gene |
ENSMUSG00000043458 |
| Gene Name |
protocadherin beta 12 |
| Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
| MMRRC Submission |
040684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3689 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37569127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 91
(A91V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91Y07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055495
AA Change: A91V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458
AA Change: A91V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,779,088 (GRCm39) |
L984Q |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,713,626 (GRCm39) |
V427A |
probably damaging |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Blm |
G |
C |
7: 80,162,827 (GRCm39) |
P175A |
possibly damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,051,819 (GRCm39) |
D208G |
probably benign |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cep162 |
G |
A |
9: 87,107,747 (GRCm39) |
Q548* |
probably null |
Het |
| Chchd10 |
T |
C |
10: 75,771,835 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Erich2 |
T |
C |
2: 70,371,097 (GRCm39) |
V419A |
unknown |
Het |
| Fam53c |
A |
G |
18: 34,903,886 (GRCm39) |
D386G |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,597,924 (GRCm39) |
T620A |
probably benign |
Het |
| G930045G22Rik |
A |
T |
6: 50,823,535 (GRCm39) |
|
noncoding transcript |
Het |
| Grpel1 |
G |
A |
5: 36,626,769 (GRCm39) |
|
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Mtss1 |
A |
G |
15: 58,825,385 (GRCm39) |
S272P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| N4bp1 |
C |
T |
8: 87,587,184 (GRCm39) |
D585N |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,579,447 (GRCm39) |
|
probably null |
Het |
| Nms |
T |
C |
1: 38,986,075 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,386 (GRCm39) |
I157L |
possibly damaging |
Het |
| Pak6 |
C |
T |
2: 118,523,921 (GRCm39) |
Q359* |
probably null |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Plscr1l1 |
A |
C |
9: 92,234,673 (GRCm39) |
N60T |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,530,766 (GRCm39) |
D239V |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,245,845 (GRCm39) |
N600S |
possibly damaging |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Sprr2j-ps |
A |
G |
3: 92,326,290 (GRCm39) |
H55R |
probably benign |
Het |
| Srsf9 |
A |
G |
5: 115,465,387 (GRCm39) |
D7G |
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,670,618 (GRCm39) |
Y51C |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,067,224 (GRCm39) |
K519E |
probably damaging |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tnk1 |
C |
A |
11: 69,746,425 (GRCm39) |
D263Y |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,054,488 (GRCm39) |
I714F |
probably benign |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Txn1 |
T |
C |
4: 57,950,846 (GRCm39) |
D61G |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,211,883 (GRCm39) |
V83A |
probably benign |
Het |
| Ulk3 |
T |
C |
9: 57,501,077 (GRCm39) |
V348A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,421,333 (GRCm39) |
T409A |
possibly damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
| Zc3h12c |
C |
T |
9: 52,027,256 (GRCm39) |
R721H |
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,660,377 (GRCm39) |
|
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 |
|
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'- GAGGCAATTAGATATTCCATGCCAG -3'
(R):5'- TGTCAGAGTCATGAGCTGCC -3'
Sequencing Primer
(F):5'- TAGATATTCCATGCCAGAAGAAAAGG -3'
(R):5'- TCAGAGTCATGAGCTGCCTTCAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation