Incidental Mutation 'R9299:Pcdhb4'
ID |
704818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhb4
|
Ensembl Gene |
ENSMUSG00000045689 |
Gene Name |
protocadherin beta 4 |
Synonyms |
PcdhbD, Pcdhb5A |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R9299 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37440508-37444225 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37442264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 525
(A525T)
|
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 benign
Transcript: ENSMUST00000056712
AA Change: A525T
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000059770 Gene: ENSMUSG00000045689 AA Change: A525T
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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
T |
9: 57,163,792 (GRCm39) |
R861S |
possibly damaging |
Het |
Abca12 |
T |
A |
1: 71,359,042 (GRCm39) |
N588I |
possibly damaging |
Het |
Adamts9 |
A |
G |
6: 92,773,976 (GRCm39) |
Y1727H |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
Alad |
C |
T |
4: 62,429,760 (GRCm39) |
|
probably null |
Het |
Anapc15-ps |
C |
A |
10: 95,509,077 (GRCm39) |
D68Y |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,862,565 (GRCm39) |
S645P |
possibly damaging |
Het |
Atp9a |
A |
T |
2: 168,554,666 (GRCm39) |
M1K |
probably null |
Het |
B020004C17Rik |
A |
T |
14: 57,254,230 (GRCm39) |
I118F |
probably damaging |
Het |
Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
Cdc42bpa |
C |
A |
1: 179,972,073 (GRCm39) |
L1292I |
probably damaging |
Het |
Clec2e |
A |
C |
6: 129,072,092 (GRCm39) |
F96V |
probably benign |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
Cyp4a10 |
A |
G |
4: 115,376,947 (GRCm39) |
M104V |
probably benign |
Het |
Cyth1 |
C |
T |
11: 118,059,837 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
Dpcd |
C |
A |
19: 45,566,009 (GRCm39) |
Q203K |
probably damaging |
Het |
Dph1 |
T |
A |
11: 75,070,622 (GRCm39) |
Q339L |
possibly damaging |
Het |
Dpy19l3 |
G |
T |
7: 35,424,752 (GRCm39) |
S187* |
probably null |
Het |
Eva1a |
G |
T |
6: 82,069,047 (GRCm39) |
A125S |
probably damaging |
Het |
Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,563,980 (GRCm39) |
T176A |
probably benign |
Het |
Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
Gm12888 |
G |
A |
4: 121,182,044 (GRCm39) |
S16F |
unknown |
Het |
Hsf5 |
T |
A |
11: 87,526,770 (GRCm39) |
C481S |
probably benign |
Het |
Ifi211 |
T |
A |
1: 173,735,288 (GRCm39) |
Q47L |
probably damaging |
Het |
Il17re |
A |
T |
6: 113,440,971 (GRCm39) |
M202L |
probably benign |
Het |
Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
Ksr2 |
G |
A |
5: 117,885,399 (GRCm39) |
|
probably null |
Het |
Lrtm1 |
C |
T |
14: 28,743,714 (GRCm39) |
P61S |
probably damaging |
Het |
Ltk |
A |
T |
2: 119,584,721 (GRCm39) |
S487R |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,185,538 (GRCm39) |
D876E |
possibly damaging |
Het |
Nalf1 |
T |
C |
8: 9,820,156 (GRCm39) |
Y288C |
probably damaging |
Het |
Or8b39 |
A |
G |
9: 37,996,785 (GRCm39) |
T218A |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,311 (GRCm39) |
N56S |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,651,885 (GRCm39) |
E118* |
probably null |
Het |
Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
Pla2g4e |
T |
A |
2: 120,002,204 (GRCm39) |
D617V |
probably damaging |
Het |
Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
Poteg |
A |
G |
8: 27,940,287 (GRCm39) |
Y156C |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,723,999 (GRCm39) |
S2644P |
probably damaging |
Het |
Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
Slc6a21 |
T |
C |
7: 44,937,130 (GRCm39) |
V252A |
|
Het |
Slx9 |
C |
A |
10: 77,351,535 (GRCm39) |
A14S |
possibly damaging |
Het |
Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
St6galnac6 |
G |
T |
2: 32,502,345 (GRCm39) |
R78L |
probably benign |
Het |
Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,081,988 (GRCm39) |
|
probably benign |
Het |
Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,504,131 (GRCm39) |
F341S |
|
Het |
Tmem82 |
A |
T |
4: 141,343,861 (GRCm39) |
C136* |
probably null |
Het |
Tmprss11a |
A |
T |
5: 86,570,361 (GRCm39) |
C199* |
probably null |
Het |
Zbtb48 |
T |
C |
4: 152,105,147 (GRCm39) |
N505S |
possibly damaging |
Het |
Zfp385b |
A |
T |
2: 77,246,115 (GRCm39) |
V304E |
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 |
IGL01608:Pcdhb4
|
APN |
18 |
37,441,803 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCACATAGGCACCATCAG -3'
(R):5'- ATGACAGCCAGGCATTCTG -3'
Sequencing Primer
(F):5'- GTGCCACAGACTCAGACTCG -3'
(R):5'- AGGCATTCTGACCAGAGTCG -3'
|
Posted On |
2022-03-25 |