Incidental Mutation 'IGL01608:Pcdhb4'
ID |
91835 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pcdhb4
|
Ensembl Gene |
ENSMUSG00000045689 |
Gene Name |
protocadherin beta 4 |
Synonyms |
PcdhbD, Pcdhb5A |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL01608
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
37440508-37444225 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37441803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 371
(D371G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059770
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051754]
[ENSMUST00000056712]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
AlphaFold |
Q91XZ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051754
|
SMART Domains |
Protein: ENSMUSP00000059180 Gene: ENSMUSG00000045498
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
CA
|
44 |
131 |
6.29e-1 |
SMART |
CA
|
155 |
240 |
7.16e-21 |
SMART |
CA
|
264 |
345 |
1.22e-23 |
SMART |
CA
|
368 |
449 |
2.86e-20 |
SMART |
CA
|
473 |
559 |
2.55e-26 |
SMART |
CA
|
589 |
670 |
1.11e-8 |
SMART |
Pfam:Cadherin_C_2
|
687 |
770 |
9.9e-25 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056712
AA Change: D371G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059770 Gene: ENSMUSG00000045689 AA Change: D371G
Domain | Start | End | E-Value | Type |
CA
|
54 |
131 |
1.66e0 |
SMART |
CA
|
155 |
240 |
1.07e-19 |
SMART |
CA
|
264 |
344 |
6.03e-28 |
SMART |
CA
|
367 |
448 |
2.57e-22 |
SMART |
CA
|
472 |
558 |
3.36e-26 |
SMART |
CA
|
588 |
669 |
3.48e-10 |
SMART |
Pfam:Cadherin_C_2
|
685 |
768 |
1e-25 |
PFAM |
|
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: ENSMUST00000193025
|
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,038,158 (GRCm39) |
L2068Q |
probably damaging |
Het |
Abca12 |
G |
T |
1: 71,298,601 (GRCm39) |
D2340E |
probably damaging |
Het |
Adcy5 |
A |
G |
16: 35,092,535 (GRCm39) |
Y632C |
probably damaging |
Het |
Adgrb3 |
A |
G |
1: 25,592,855 (GRCm39) |
S311P |
probably damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Atf2 |
G |
T |
2: 73,649,422 (GRCm39) |
H396Q |
probably damaging |
Het |
Atp8a1 |
G |
A |
5: 67,970,479 (GRCm39) |
R74* |
probably null |
Het |
Brpf3 |
T |
C |
17: 29,040,491 (GRCm39) |
S971P |
probably benign |
Het |
Btn1a1 |
T |
C |
13: 23,645,778 (GRCm39) |
E197G |
probably benign |
Het |
Ccdc136 |
C |
T |
6: 29,406,113 (GRCm39) |
A87V |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,630,560 (GRCm39) |
L376P |
probably damaging |
Het |
Chrm3 |
G |
A |
13: 9,928,634 (GRCm39) |
A134V |
possibly damaging |
Het |
Col19a1 |
G |
A |
1: 24,321,626 (GRCm39) |
R961C |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,837,528 (GRCm39) |
V1190A |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,389,614 (GRCm39) |
S515T |
probably benign |
Het |
Eprs1 |
T |
A |
1: 185,117,311 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,186,776 (GRCm39) |
Y1708* |
probably null |
Het |
Glt1d1 |
A |
G |
5: 127,741,746 (GRCm39) |
N148S |
possibly damaging |
Het |
Gm20425 |
T |
A |
9: 103,068,293 (GRCm39) |
I44F |
probably damaging |
Het |
Gpr22 |
T |
A |
12: 31,758,779 (GRCm39) |
K411* |
probably null |
Het |
Ipo11 |
A |
G |
13: 106,971,002 (GRCm39) |
|
probably benign |
Het |
Klri1 |
T |
A |
6: 129,675,130 (GRCm39) |
N210I |
possibly damaging |
Het |
Kmt2c |
C |
T |
5: 25,559,809 (GRCm39) |
V950M |
probably damaging |
Het |
Knop1 |
T |
C |
7: 118,445,019 (GRCm39) |
K315R |
probably benign |
Het |
Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
Lrrc32 |
T |
A |
7: 98,148,564 (GRCm39) |
V448D |
probably benign |
Het |
Met |
T |
C |
6: 17,558,729 (GRCm39) |
V1119A |
probably damaging |
Het |
Minar1 |
T |
C |
9: 89,478,551 (GRCm39) |
T832A |
probably benign |
Het |
Mipep |
T |
A |
14: 61,039,679 (GRCm39) |
I236N |
possibly damaging |
Het |
Mrpl45 |
A |
G |
11: 97,207,747 (GRCm39) |
T81A |
probably benign |
Het |
Mtbp |
G |
T |
15: 55,421,085 (GRCm39) |
E24* |
probably null |
Het |
Muc5b |
C |
T |
7: 141,400,174 (GRCm39) |
T476I |
unknown |
Het |
Mup6 |
C |
T |
4: 60,006,021 (GRCm39) |
T163I |
probably benign |
Het |
Myo1g |
T |
A |
11: 6,466,780 (GRCm39) |
I278F |
possibly damaging |
Het |
Myo9a |
A |
T |
9: 59,778,119 (GRCm39) |
K1292* |
probably null |
Het |
Nbeal1 |
T |
A |
1: 60,281,694 (GRCm39) |
|
probably benign |
Het |
Nck1 |
C |
A |
9: 100,379,440 (GRCm39) |
R270S |
probably benign |
Het |
Neb |
T |
C |
2: 52,060,548 (GRCm39) |
E6035G |
probably damaging |
Het |
Nlrp4f |
A |
C |
13: 65,343,357 (GRCm39) |
L96* |
probably null |
Het |
Or11g1 |
A |
T |
14: 50,651,910 (GRCm39) |
H303L |
probably benign |
Het |
Or4a77 |
A |
T |
2: 89,486,835 (GRCm39) |
|
probably benign |
Het |
Or51l14 |
A |
T |
7: 103,101,011 (GRCm39) |
I156F |
probably benign |
Het |
Or5t18 |
A |
C |
2: 86,636,769 (GRCm39) |
Y191* |
probably null |
Het |
Padi2 |
A |
G |
4: 140,659,541 (GRCm39) |
E282G |
probably damaging |
Het |
Pcdhb8 |
A |
G |
18: 37,489,978 (GRCm39) |
D552G |
probably damaging |
Het |
Peli3 |
A |
G |
19: 4,982,855 (GRCm39) |
I270T |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,118,516 (GRCm39) |
M407V |
probably benign |
Het |
Ppm1h |
C |
T |
10: 122,777,185 (GRCm39) |
R103* |
probably null |
Het |
Rangap1 |
C |
T |
15: 81,593,705 (GRCm39) |
V457M |
probably benign |
Het |
Scube2 |
A |
G |
7: 109,442,461 (GRCm39) |
V257A |
probably benign |
Het |
Shc1 |
C |
A |
3: 89,332,156 (GRCm39) |
Q204K |
probably damaging |
Het |
Slc6a4 |
T |
A |
11: 76,917,961 (GRCm39) |
Y568N |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,923,439 (GRCm39) |
F7L |
probably benign |
Het |
St6galnac4 |
T |
A |
2: 32,484,098 (GRCm39) |
C99S |
probably damaging |
Het |
Strc |
T |
C |
2: 121,206,075 (GRCm39) |
D779G |
probably benign |
Het |
Supt6 |
A |
T |
11: 78,116,309 (GRCm39) |
Y685N |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,869,418 (GRCm39) |
T256A |
probably benign |
Het |
Vmn1r74 |
A |
T |
7: 11,581,560 (GRCm39) |
I287F |
probably damaging |
Het |
Zmym2 |
C |
A |
14: 57,185,472 (GRCm39) |
Q1035K |
possibly damaging |
Het |
Zswim3 |
G |
A |
2: 164,663,440 (GRCm39) |
R640H |
probably damaging |
Het |
|
Other mutations in Pcdhb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Pcdhb4
|
APN |
18 |
37,442,969 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01319:Pcdhb4
|
APN |
18 |
37,441,566 (GRCm39) |
missense |
probably benign |
|
IGL01325:Pcdhb4
|
APN |
18 |
37,442,676 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01808:Pcdhb4
|
APN |
18 |
37,442,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01962:Pcdhb4
|
APN |
18 |
37,442,057 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02280:Pcdhb4
|
APN |
18 |
37,440,735 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02622:Pcdhb4
|
APN |
18 |
37,442,721 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03025:Pcdhb4
|
APN |
18 |
37,443,030 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL03137:Pcdhb4
|
APN |
18 |
37,441,569 (GRCm39) |
missense |
probably damaging |
0.98 |
P0031:Pcdhb4
|
UTSW |
18 |
37,441,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R0385:Pcdhb4
|
UTSW |
18 |
37,442,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R0611:Pcdhb4
|
UTSW |
18 |
37,441,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R0671:Pcdhb4
|
UTSW |
18 |
37,440,795 (GRCm39) |
missense |
probably benign |
0.01 |
R0738:Pcdhb4
|
UTSW |
18 |
37,441,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R0853:Pcdhb4
|
UTSW |
18 |
37,442,938 (GRCm39) |
nonsense |
probably null |
|
R0893:Pcdhb4
|
UTSW |
18 |
37,442,423 (GRCm39) |
splice site |
probably null |
|
R1932:Pcdhb4
|
UTSW |
18 |
37,442,594 (GRCm39) |
missense |
probably benign |
0.33 |
R1945:Pcdhb4
|
UTSW |
18 |
37,441,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R2194:Pcdhb4
|
UTSW |
18 |
37,441,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Pcdhb4
|
UTSW |
18 |
37,441,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R3807:Pcdhb4
|
UTSW |
18 |
37,442,367 (GRCm39) |
missense |
probably damaging |
0.98 |
R3815:Pcdhb4
|
UTSW |
18 |
37,441,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R3816:Pcdhb4
|
UTSW |
18 |
37,441,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R3974:Pcdhb4
|
UTSW |
18 |
37,441,901 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4558:Pcdhb4
|
UTSW |
18 |
37,443,017 (GRCm39) |
missense |
probably benign |
|
R4606:Pcdhb4
|
UTSW |
18 |
37,441,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R4615:Pcdhb4
|
UTSW |
18 |
37,441,553 (GRCm39) |
missense |
probably benign |
0.02 |
R4840:Pcdhb4
|
UTSW |
18 |
37,441,452 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5240:Pcdhb4
|
UTSW |
18 |
37,442,979 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5272:Pcdhb4
|
UTSW |
18 |
37,440,819 (GRCm39) |
missense |
probably benign |
0.04 |
R5586:Pcdhb4
|
UTSW |
18 |
37,442,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R5683:Pcdhb4
|
UTSW |
18 |
37,442,042 (GRCm39) |
missense |
probably benign |
0.45 |
R5917:Pcdhb4
|
UTSW |
18 |
37,442,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R6110:Pcdhb4
|
UTSW |
18 |
37,441,482 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6383:Pcdhb4
|
UTSW |
18 |
37,441,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R6877:Pcdhb4
|
UTSW |
18 |
37,442,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R7036:Pcdhb4
|
UTSW |
18 |
37,441,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7204:Pcdhb4
|
UTSW |
18 |
37,442,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7271:Pcdhb4
|
UTSW |
18 |
37,441,222 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7436:Pcdhb4
|
UTSW |
18 |
37,442,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R7444:Pcdhb4
|
UTSW |
18 |
37,442,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R7614:Pcdhb4
|
UTSW |
18 |
37,442,602 (GRCm39) |
missense |
probably benign |
0.40 |
R7650:Pcdhb4
|
UTSW |
18 |
37,442,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R7664:Pcdhb4
|
UTSW |
18 |
37,442,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R8080:Pcdhb4
|
UTSW |
18 |
37,442,349 (GRCm39) |
missense |
probably benign |
0.42 |
R8087:Pcdhb4
|
UTSW |
18 |
37,441,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R8115:Pcdhb4
|
UTSW |
18 |
37,442,453 (GRCm39) |
missense |
probably damaging |
0.99 |
R8697:Pcdhb4
|
UTSW |
18 |
37,441,832 (GRCm39) |
missense |
probably benign |
0.15 |
R8815:Pcdhb4
|
UTSW |
18 |
37,442,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:Pcdhb4
|
UTSW |
18 |
37,440,714 (GRCm39) |
missense |
probably benign |
|
R9225:Pcdhb4
|
UTSW |
18 |
37,441,695 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9278:Pcdhb4
|
UTSW |
18 |
37,441,925 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9299:Pcdhb4
|
UTSW |
18 |
37,442,264 (GRCm39) |
missense |
probably benign |
0.02 |
R9390:Pcdhb4
|
UTSW |
18 |
37,442,781 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9582:Pcdhb4
|
UTSW |
18 |
37,441,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R9686:Pcdhb4
|
UTSW |
18 |
37,442,943 (GRCm39) |
missense |
probably damaging |
0.98 |
R9721:Pcdhb4
|
UTSW |
18 |
37,442,905 (GRCm39) |
missense |
possibly damaging |
0.70 |
Z1177:Pcdhb4
|
UTSW |
18 |
37,442,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2013-12-09 |