Incidental Mutation 'R4615:Pcdhb4'
| ID |
345054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb4
|
| Ensembl Gene |
ENSMUSG00000045689 |
| Gene Name |
protocadherin beta 4 |
| Synonyms |
PcdhbD, Pcdhb5A |
| MMRRC Submission |
041826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4615 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37440508-37444225 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37441553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 288
(S288T)
|
| 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: S288T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: S288T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
| Abcc9 |
C |
G |
6: 142,634,833 (GRCm39) |
A144P |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,642,688 (GRCm39) |
|
probably null |
Het |
| Adprhl1 |
A |
G |
8: 13,292,250 (GRCm39) |
|
probably null |
Het |
| Angptl3 |
A |
T |
4: 98,919,598 (GRCm39) |
E119D |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,686,170 (GRCm39) |
N671S |
probably null |
Het |
| C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,421,706 (GRCm39) |
D1019G |
possibly damaging |
Het |
| Cdh8 |
A |
T |
8: 100,006,254 (GRCm39) |
I111K |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,847,913 (GRCm39) |
R649G |
probably damaging |
Het |
| Clptm1l |
A |
T |
13: 73,755,857 (GRCm39) |
K158* |
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
A |
C |
5: 72,762,117 (GRCm39) |
L466V |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,481,137 (GRCm39) |
T1240A |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,433,560 (GRCm39) |
S1117P |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,550 (GRCm39) |
L396Q |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,745,164 (GRCm39) |
L56* |
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,276,457 (GRCm39) |
T458A |
probably benign |
Het |
| Dio2 |
G |
T |
12: 90,696,595 (GRCm39) |
P131Q |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,208,236 (GRCm39) |
Y990C |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,104,545 (GRCm39) |
D594G |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,375,608 (GRCm39) |
E1131G |
probably damaging |
Het |
| Fdx1 |
A |
T |
9: 51,859,945 (GRCm39) |
Y21* |
probably null |
Het |
| Gal3st4 |
A |
G |
5: 138,264,525 (GRCm39) |
V158A |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,815,820 (GRCm39) |
E67D |
probably benign |
Het |
| Gm5773 |
A |
G |
3: 93,681,339 (GRCm39) |
H337R |
probably benign |
Het |
| Gng2 |
C |
T |
14: 19,941,395 (GRCm39) |
V16I |
possibly damaging |
Het |
| Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,492,726 (GRCm39) |
E1091G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,857,520 (GRCm39) |
V3110F |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
| Ncapg |
A |
T |
5: 45,844,741 (GRCm39) |
M579L |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,884,899 (GRCm39) |
Y346N |
probably benign |
Het |
| Or10ak14 |
T |
C |
4: 118,611,334 (GRCm39) |
T134A |
probably benign |
Het |
| Or14c39 |
T |
C |
7: 86,343,936 (GRCm39) |
S91P |
probably damaging |
Het |
| Orm2 |
A |
G |
4: 63,281,536 (GRCm39) |
D89G |
probably damaging |
Het |
| Pcsk2 |
G |
T |
2: 143,637,889 (GRCm39) |
C375F |
probably damaging |
Het |
| Pdcd10 |
T |
C |
3: 75,428,398 (GRCm39) |
I138M |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,970,485 (GRCm39) |
W536R |
probably damaging |
Het |
| Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,737,293 (GRCm39) |
N878I |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,480,938 (GRCm39) |
D353V |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,784,287 (GRCm39) |
T954I |
probably benign |
Het |
| Ran |
A |
G |
5: 129,099,162 (GRCm39) |
I115V |
probably benign |
Het |
| Reln |
A |
G |
5: 22,177,870 (GRCm39) |
L1867P |
possibly damaging |
Het |
| S100a1 |
A |
G |
3: 90,418,562 (GRCm39) |
V84A |
possibly damaging |
Het |
| Sall2 |
G |
A |
14: 52,550,207 (GRCm39) |
P994L |
probably benign |
Het |
| Shtn1 |
A |
T |
19: 59,010,648 (GRCm39) |
I273N |
probably benign |
Het |
| Slc17a9 |
T |
C |
2: 180,373,699 (GRCm39) |
I40T |
probably benign |
Het |
| Slc29a2 |
T |
C |
19: 5,079,292 (GRCm39) |
V305A |
probably damaging |
Het |
| Taar2 |
T |
A |
10: 23,817,263 (GRCm39) |
F268I |
probably benign |
Het |
| Taf3 |
G |
A |
2: 9,956,901 (GRCm39) |
T422I |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,156 (GRCm39) |
F99L |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,597,219 (GRCm39) |
I19898T |
probably damaging |
Het |
| Ulk1 |
G |
T |
5: 110,936,912 (GRCm39) |
T3N |
probably damaging |
Het |
| Vars1 |
A |
T |
17: 35,232,857 (GRCm39) |
K900N |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,441,348 (GRCm39) |
V170A |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,316,229 (GRCm39) |
L530Q |
probably damaging |
Het |
| Zar1l |
G |
T |
5: 150,441,528 (GRCm39) |
Q33K |
probably benign |
Het |
| Zdhhc16 |
T |
C |
19: 41,932,122 (GRCm39) |
V358A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCTCACCGCTCTGGATG -3'
(R):5'- GGGGCGTTATCATTCACATCC -3'
Sequencing Primer
(F):5'- CTGGGATGACCACAGTTCATATTG -3'
(R):5'- GGGCGTTATCATTCACATCCAACAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation