Incidental Mutation 'R6877:Pcdhb4'
| ID |
536492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb4
|
| Ensembl Gene |
ENSMUSG00000045689 |
| Gene Name |
protocadherin beta 4 |
| Synonyms |
PcdhbD, Pcdhb5A |
| MMRRC Submission |
044973-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6877 (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 G
at 37442625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 645
(D645G)
|
| 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: D645G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059770
Gene: ENSMUSG00000045689
AA Change: D645G
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
94% (47/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,078,274 (GRCm39) |
H650R |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,522,922 (GRCm39) |
Y1367C |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,947,052 (GRCm39) |
C1043* |
probably null |
Het |
| Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
| AU041133 |
A |
G |
10: 81,987,405 (GRCm39) |
T352A |
probably benign |
Het |
| Bcl7a |
A |
G |
5: 123,489,958 (GRCm39) |
T41A |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,921,967 (GRCm39) |
F298Y |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,764,528 (GRCm39) |
T749I |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,132,143 (GRCm39) |
N646S |
probably benign |
Het |
| Dcst1 |
T |
C |
3: 89,257,667 (GRCm39) |
D701G |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,455,997 (GRCm39) |
T1001K |
possibly damaging |
Het |
| Dnah8 |
G |
T |
17: 30,965,933 (GRCm39) |
G2422W |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,328 (GRCm39) |
I310N |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,089,320 (GRCm39) |
N1099Y |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,768,033 (GRCm39) |
N762K |
probably benign |
Het |
| Esco2 |
A |
G |
14: 66,068,494 (GRCm39) |
V272A |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,910,564 (GRCm39) |
S1813A |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,916,228 (GRCm39) |
V1710A |
probably damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,194,784 (GRCm39) |
T185A |
possibly damaging |
Het |
| Litafd |
G |
A |
16: 8,501,173 (GRCm39) |
V10I |
unknown |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,852,186 (GRCm39) |
C460S |
probably benign |
Het |
| Ntaq1 |
C |
A |
15: 58,017,074 (GRCm39) |
P163Q |
probably damaging |
Het |
| Or10g3b |
T |
A |
14: 52,587,270 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,184 (GRCm39) |
I206V |
probably benign |
Het |
| Ovch2 |
G |
A |
7: 107,389,315 (GRCm39) |
A371V |
probably benign |
Het |
| Pcnt |
A |
C |
10: 76,269,851 (GRCm39) |
S207A |
possibly damaging |
Het |
| Pex1 |
A |
T |
5: 3,685,505 (GRCm39) |
Q1211L |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,115,553 (GRCm39) |
E99G |
probably damaging |
Het |
| Prkrip1 |
A |
T |
5: 136,218,478 (GRCm39) |
|
probably null |
Het |
| Rnf133 |
A |
G |
6: 23,649,486 (GRCm39) |
F191L |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,848 (GRCm39) |
T1674A |
probably damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,839,501 (GRCm39) |
V682M |
probably damaging |
Het |
| Spi1 |
T |
C |
2: 90,944,741 (GRCm39) |
L162P |
probably damaging |
Het |
| Sptan1 |
C |
G |
2: 29,920,985 (GRCm39) |
N2432K |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,064,884 (GRCm39) |
V271A |
probably benign |
Het |
| Sumf2 |
G |
A |
5: 129,878,867 (GRCm39) |
D68N |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,855 (GRCm39) |
E92G |
possibly damaging |
Het |
| Ube3c |
G |
T |
5: 29,792,316 (GRCm39) |
R37L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,002,814 (GRCm39) |
S1446P |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,505 (GRCm39) |
N51S |
probably damaging |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,290 (GRCm39) |
F70L |
possibly damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,389,084 (GRCm39) |
N466S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,634,164 (GRCm39) |
V2153D |
possibly damaging |
Het |
| Yeats2 |
A |
G |
16: 19,998,344 (GRCm39) |
T300A |
probably benign |
Het |
| Zc3h12d |
G |
T |
10: 7,715,735 (GRCm39) |
R46L |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,973,916 (GRCm39) |
I38T |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,697,100 (GRCm39) |
T505I |
unknown |
Het |
| Zpld1 |
C |
T |
16: 55,072,034 (GRCm39) |
G75E |
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 |
|
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'- AGAATGCTTCTGCGCCCTAC -3'
(R):5'- AAAGTGTCCCTCAGGCACAG -3'
Sequencing Primer
(F):5'- TGGCTACCTGGTCACCAAG -3'
(R):5'- TGTCCCTCAGGCACAGAGTAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation