Incidental Mutation 'R5091:Pcdhb12'
ID |
387783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb12
|
Ensembl Gene |
ENSMUSG00000043458 |
Gene Name |
protocadherin beta 12 |
Synonyms |
Pcdh3, Pcdhb5F, PcdhbL |
MMRRC Submission |
042680-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R5091 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37568674-37571707 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 37568907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 18
(K18*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055495]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q91Y07 |
Predicted Effect |
probably null
Transcript: ENSMUST00000055495
AA Change: K18*
|
SMART Domains |
Protein: ENSMUSP00000050357 Gene: ENSMUSG00000043458 AA Change: K18*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
96% (67/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
G |
13: 54,701,057 (GRCm39) |
S174P |
probably damaging |
Het |
4931414P19Rik |
T |
C |
14: 54,823,168 (GRCm39) |
E343G |
probably damaging |
Het |
Abca14 |
T |
C |
7: 119,851,497 (GRCm39) |
V825A |
probably damaging |
Het |
Abca8b |
G |
T |
11: 109,827,210 (GRCm39) |
T1466K |
possibly damaging |
Het |
Adcy8 |
A |
G |
15: 64,678,553 (GRCm39) |
S467P |
probably damaging |
Het |
Agbl4 |
T |
C |
4: 110,976,237 (GRCm39) |
V198A |
possibly damaging |
Het |
Agpat4 |
A |
G |
17: 12,417,699 (GRCm39) |
K80R |
probably benign |
Het |
Akap8 |
T |
C |
17: 32,535,208 (GRCm39) |
T269A |
probably benign |
Het |
Ankhd1 |
A |
T |
18: 36,758,080 (GRCm39) |
I925F |
possibly damaging |
Het |
Aste1 |
A |
G |
9: 105,282,203 (GRCm39) |
Y57C |
probably damaging |
Het |
Axdnd1 |
A |
G |
1: 156,247,980 (GRCm39) |
S7P |
possibly damaging |
Het |
BC051019 |
T |
A |
7: 109,319,789 (GRCm39) |
R91S |
probably null |
Het |
Cavin2 |
C |
A |
1: 51,340,398 (GRCm39) |
N358K |
probably benign |
Het |
Cd2 |
T |
C |
3: 101,190,355 (GRCm39) |
N196S |
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,436,483 (GRCm39) |
V867I |
probably benign |
Het |
Col6a4 |
T |
A |
9: 105,952,262 (GRCm39) |
K545N |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,268,679 (GRCm39) |
|
probably null |
Het |
Cyp2c65 |
A |
T |
19: 39,076,009 (GRCm39) |
|
probably null |
Het |
Dcaf6 |
T |
C |
1: 165,157,572 (GRCm39) |
D856G |
possibly damaging |
Het |
Epcam |
T |
C |
17: 87,949,580 (GRCm39) |
I181T |
probably damaging |
Het |
Esrp2 |
A |
G |
8: 106,859,061 (GRCm39) |
S562P |
probably damaging |
Het |
Fcgbpl1 |
A |
C |
7: 27,856,383 (GRCm39) |
I2057L |
probably benign |
Het |
Ffar4 |
A |
G |
19: 38,085,627 (GRCm39) |
D18G |
probably benign |
Het |
Gen1 |
C |
T |
12: 11,296,347 (GRCm39) |
V337I |
probably damaging |
Het |
Gimap8 |
C |
T |
6: 48,633,581 (GRCm39) |
P467S |
possibly damaging |
Het |
Gnl3 |
T |
A |
14: 30,738,803 (GRCm39) |
H82L |
possibly damaging |
Het |
Grid2 |
T |
C |
6: 64,053,862 (GRCm39) |
S354P |
probably benign |
Het |
Ighmbp2 |
T |
A |
19: 3,315,084 (GRCm39) |
T779S |
possibly damaging |
Het |
Ints15 |
C |
T |
5: 143,293,443 (GRCm39) |
E345K |
possibly damaging |
Het |
Kif19a |
C |
A |
11: 114,673,923 (GRCm39) |
T348N |
probably damaging |
Het |
Lrrc15 |
T |
A |
16: 30,092,172 (GRCm39) |
N389I |
probably damaging |
Het |
Mrps26 |
A |
G |
2: 130,405,886 (GRCm39) |
Y63C |
probably damaging |
Het |
Myd88 |
C |
A |
9: 119,166,889 (GRCm39) |
V223F |
possibly damaging |
Het |
Nox4 |
T |
A |
7: 87,025,450 (GRCm39) |
W526R |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,185,838 (GRCm39) |
N300K |
probably damaging |
Het |
Nsmf |
T |
C |
2: 24,950,464 (GRCm39) |
|
probably benign |
Het |
Patl2 |
A |
C |
2: 121,954,283 (GRCm39) |
H429Q |
probably benign |
Het |
Peg10 |
T |
A |
6: 4,754,511 (GRCm39) |
D97E |
probably benign |
Het |
Runx1t1 |
C |
T |
4: 13,846,830 (GRCm39) |
Q205* |
probably null |
Het |
Selenon |
T |
C |
4: 134,275,284 (GRCm39) |
K138R |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,262,000 (GRCm39) |
E369G |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,248,190 (GRCm39) |
|
probably null |
Het |
Sptbn4 |
A |
T |
7: 27,068,816 (GRCm39) |
M499K |
probably damaging |
Het |
Sra1 |
A |
T |
18: 36,803,012 (GRCm39) |
|
probably benign |
Het |
Stra6 |
T |
C |
9: 58,048,429 (GRCm39) |
L174P |
probably damaging |
Het |
Syngr1 |
T |
C |
15: 80,000,086 (GRCm39) |
Y66H |
probably damaging |
Het |
Synpo |
G |
T |
18: 60,735,831 (GRCm39) |
S466* |
probably null |
Het |
Tenm3 |
T |
A |
8: 48,795,343 (GRCm39) |
M595L |
probably benign |
Het |
Tnks |
T |
C |
8: 35,308,963 (GRCm39) |
T1099A |
probably benign |
Het |
Tram1l1 |
G |
T |
3: 124,115,400 (GRCm39) |
V187F |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,965,639 (GRCm39) |
E529G |
probably benign |
Het |
Usp17la |
T |
C |
7: 104,510,139 (GRCm39) |
V248A |
probably damaging |
Het |
Virma |
T |
C |
4: 11,519,392 (GRCm39) |
Y880H |
probably benign |
Het |
Vmn1r214 |
C |
T |
13: 23,219,571 (GRCm39) |
T355I |
possibly damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,598,205 (GRCm39) |
K784R |
possibly damaging |
Het |
Wrap53 |
C |
T |
11: 69,453,273 (GRCm39) |
W389* |
probably null |
Het |
Zfp748 |
A |
G |
13: 67,689,638 (GRCm39) |
S541P |
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 |
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'- GCAGAATTTCGGAAGCTTTGG -3'
(R):5'- ACAAATTCCCAGTCTCTGCATC -3'
Sequencing Primer
(F):5'- ATCATTTGGGAAGAAGGCGTCTCC -3'
(R):5'- GCATCCATCTGCAAGAGCTCTTTG -3'
|
Posted On |
2016-06-06 |