Incidental Mutation 'R9686:Pcdhb4'
| ID |
728881 |
| 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 # |
R9686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37440508-37444225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37442943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 751
(Y751S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056712]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056712
AA Change: Y751S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: Y751S
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,247,867 (GRCm39) |
F1209L |
probably benign |
Het |
| Adamts19 |
A |
G |
18: 58,971,093 (GRCm39) |
T226A |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,236,084 (GRCm39) |
T220A |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,740,550 (GRCm39) |
E1778V |
unknown |
Het |
| Aspn |
T |
C |
13: 49,710,829 (GRCm39) |
I158T |
probably damaging |
Het |
| Btbd1 |
A |
G |
7: 81,455,598 (GRCm39) |
C258R |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,070,872 (GRCm39) |
N278S |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,678,926 (GRCm39) |
E12G |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,919 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ceacam3 |
C |
T |
7: 16,892,123 (GRCm39) |
L289F |
|
Het |
| Cenpj |
G |
A |
14: 56,790,048 (GRCm39) |
A667V |
probably benign |
Het |
| Clu |
G |
T |
14: 66,212,454 (GRCm39) |
G136C |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,474,962 (GRCm39) |
F626I |
unknown |
Het |
| Csf2ra |
A |
G |
19: 61,213,629 (GRCm39) |
F360S |
probably damaging |
Het |
| Cyp27b1 |
T |
A |
10: 126,886,185 (GRCm39) |
S289T |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,979,048 (GRCm39) |
H1781Q |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fap |
T |
C |
2: 62,403,857 (GRCm39) |
K6R |
possibly damaging |
Het |
| Fcer1a |
A |
G |
1: 173,052,980 (GRCm39) |
V72A |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,456,434 (GRCm39) |
S2211P |
possibly damaging |
Het |
| Gm20939 |
A |
T |
17: 95,184,888 (GRCm39) |
H512L |
probably damaging |
Het |
| Gng12 |
T |
C |
6: 66,994,529 (GRCm39) |
S59P |
probably damaging |
Het |
| Grin1 |
A |
C |
2: 25,203,522 (GRCm39) |
I163S |
probably benign |
Het |
| Haus5 |
A |
G |
7: 30,361,398 (GRCm39) |
I74T |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,613,356 (GRCm39) |
P1357L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,500 (GRCm39) |
I461T |
probably benign |
Het |
| Kmo |
A |
G |
1: 175,459,786 (GRCm39) |
M1V |
probably null |
Het |
| Krt80 |
G |
A |
15: 101,262,281 (GRCm39) |
R107C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,377,491 (GRCm39) |
V1481A |
possibly damaging |
Het |
| Masp1 |
A |
G |
16: 23,314,887 (GRCm39) |
S125P |
probably damaging |
Het |
| Mroh2b |
C |
T |
15: 4,974,605 (GRCm39) |
P1195L |
probably benign |
Het |
| Neurl3 |
A |
T |
1: 36,305,539 (GRCm39) |
W223R |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,487,853 (GRCm39) |
T52A |
probably benign |
Het |
| Or5g27 |
T |
A |
2: 85,410,340 (GRCm39) |
Y252* |
probably null |
Het |
| Or5k1b |
T |
C |
16: 58,581,126 (GRCm39) |
K138E |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,335 (GRCm39) |
I170F |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,592,766 (GRCm39) |
A733S |
probably benign |
Het |
| Pde4a |
A |
G |
9: 21,117,562 (GRCm39) |
E608G |
probably benign |
Het |
| Pfdn2 |
G |
A |
1: 171,185,377 (GRCm39) |
E98K |
unknown |
Het |
| Pikfyve |
T |
A |
1: 65,291,615 (GRCm39) |
V1278D |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,204,694 (GRCm39) |
T1843S |
probably damaging |
Het |
| Rab12 |
G |
T |
17: 66,826,513 (GRCm39) |
A66E |
probably benign |
Het |
| Ralyl |
T |
C |
3: 13,841,887 (GRCm39) |
|
probably benign |
Het |
| Rbm47 |
A |
T |
5: 66,179,969 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,743,384 (GRCm39) |
D3038E |
possibly damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,005 (GRCm39) |
F407L |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,049,271 (GRCm39) |
D332E |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,400,577 (GRCm39) |
V729A |
possibly damaging |
Het |
| Slfn5 |
A |
T |
11: 82,848,001 (GRCm39) |
E295D |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,316,775 (GRCm39) |
S518G |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,381,954 (GRCm39) |
D29G |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,989,108 (GRCm39) |
E925K |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,199,946 (GRCm39) |
S2894P |
probably benign |
Het |
| Taar7a |
G |
A |
10: 23,869,309 (GRCm39) |
T24I |
probably benign |
Het |
| Taf4b |
C |
A |
18: 14,932,215 (GRCm39) |
T189N |
possibly damaging |
Het |
| Tle7 |
T |
A |
8: 110,836,563 (GRCm39) |
W180R |
probably damaging |
Het |
| Ube2o |
A |
T |
11: 116,434,779 (GRCm39) |
C561S |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,424,351 (GRCm39) |
I3213N |
|
Het |
| Vmn1r103 |
A |
G |
7: 20,244,353 (GRCm39) |
V36A |
possibly damaging |
Het |
| Vmn2r65 |
G |
A |
7: 84,590,084 (GRCm39) |
L611F |
probably benign |
Het |
| Zfp51 |
C |
T |
17: 21,683,871 (GRCm39) |
S162F |
probably damaging |
Het |
| Zfp518b |
G |
A |
5: 38,831,457 (GRCm39) |
H183Y |
probably damaging |
Het |
| Zfp622 |
A |
G |
15: 25,985,141 (GRCm39) |
E169G |
probably benign |
Het |
| Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
probably damaging |
Het |
| Zfp839 |
A |
T |
12: 110,821,932 (GRCm39) |
I249F |
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 |
|
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 |
|
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'- CTGGATCCTACACGGGAAGAAG -3'
(R):5'- ACTAAGACAGCAGGCAGTTG -3'
Sequencing Primer
(F):5'- GGAAGAAGATAATCTCACGCTGTATC -3'
(R):5'- CAGCAGGCAGTTGAAGCATTAATTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation