Incidental Mutation 'R0789:Vmn2r56'
| ID |
76392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r56
|
| Ensembl Gene |
ENSMUSG00000090762 |
| Gene Name |
vomeronasal 2, receptor 56 |
| Synonyms |
EG629079 |
| MMRRC Submission |
038969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12427787-12468785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12466762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 91
(Y91H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163852]
|
| AlphaFold |
A0A3B2WBA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163852
AA Change: Y91H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129566
Gene: ENSMUSG00000090762
AA Change: Y91H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
5 |
397 |
1.9e-55 |
PFAM |
|
Pfam:NCD3G
|
439 |
492 |
6.4e-20 |
PFAM |
|
Pfam:7tm_3
|
523 |
760 |
1.3e-53 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 91.7%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
T |
C |
5: 24,744,862 (GRCm39) |
T111A |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,283 (GRCm39) |
I526M |
possibly damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,341,895 (GRCm39) |
V335I |
probably damaging |
Het |
| Ccdc33 |
C |
T |
9: 58,024,497 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
T |
G |
19: 47,943,748 (GRCm39) |
I316S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,407 (GRCm39) |
L349Q |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,210 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Dnah1 |
T |
C |
14: 31,026,548 (GRCm39) |
I777V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,874,967 (GRCm39) |
V3966A |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,570 (GRCm39) |
S656F |
possibly damaging |
Het |
| Fgf10 |
T |
A |
13: 118,925,741 (GRCm39) |
N173K |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,576,293 (GRCm39) |
E572K |
probably damaging |
Het |
| Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
| Glt8d2 |
T |
C |
10: 82,500,519 (GRCm39) |
N77S |
probably damaging |
Het |
| Grem1 |
C |
A |
2: 113,580,056 (GRCm39) |
K148N |
probably benign |
Het |
| Hat1 |
G |
A |
2: 71,252,088 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,293,603 (GRCm39) |
I3517F |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,838,051 (GRCm39) |
K253R |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,595,151 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,411,888 (GRCm39) |
Y66C |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,105,932 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,784,609 (GRCm39) |
M253V |
probably benign |
Het |
| Omt2b |
G |
T |
9: 78,235,447 (GRCm39) |
|
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,171 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,408,458 (GRCm39) |
P138H |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,226 (GRCm39) |
Y358C |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,562,366 (GRCm39) |
M1215T |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,275,852 (GRCm39) |
Y145H |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,984,891 (GRCm39) |
E927G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,611,318 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,247,112 (GRCm39) |
C812R |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,828,133 (GRCm39) |
G114W |
probably damaging |
Het |
| Smpd4 |
T |
C |
16: 17,443,690 (GRCm39) |
V78A |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,852,202 (GRCm39) |
S241T |
probably benign |
Het |
| Tsga10 |
A |
T |
1: 37,840,868 (GRCm39) |
I446N |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,137,582 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,683,082 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,612,225 (GRCm39) |
S864T |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,738 (GRCm39) |
V216A |
possibly damaging |
Het |
| Wdr17 |
A |
T |
8: 55,112,607 (GRCm39) |
|
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,016,615 (GRCm39) |
T799A |
possibly damaging |
Het |
|
| Other mutations in Vmn2r56 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Vmn2r56
|
APN |
7 |
12,449,426 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01060:Vmn2r56
|
APN |
7 |
12,447,016 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01433:Vmn2r56
|
APN |
7 |
12,449,541 (GRCm39) |
missense |
probably benign |
|
|
IGL01859:Vmn2r56
|
APN |
7 |
12,449,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01874:Vmn2r56
|
APN |
7 |
12,449,602 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02208:Vmn2r56
|
APN |
7 |
12,449,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4445001:Vmn2r56
|
UTSW |
7 |
12,449,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0077:Vmn2r56
|
UTSW |
7 |
12,449,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0278:Vmn2r56
|
UTSW |
7 |
12,449,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0512:Vmn2r56
|
UTSW |
7 |
12,449,350 (GRCm39) |
missense |
probably benign |
|
|
R0658:Vmn2r56
|
UTSW |
7 |
12,444,235 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1534:Vmn2r56
|
UTSW |
7 |
12,427,954 (GRCm39) |
missense |
probably benign |
|
|
R1731:Vmn2r56
|
UTSW |
7 |
12,466,972 (GRCm39) |
missense |
probably benign |
|
|
R1817:Vmn2r56
|
UTSW |
7 |
12,449,542 (GRCm39) |
missense |
probably benign |
|
|
R2047:Vmn2r56
|
UTSW |
7 |
12,466,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Vmn2r56
|
UTSW |
7 |
12,446,890 (GRCm39) |
nonsense |
probably null |
|
|
R2160:Vmn2r56
|
UTSW |
7 |
12,428,146 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2449:Vmn2r56
|
UTSW |
7 |
12,428,082 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2877:Vmn2r56
|
UTSW |
7 |
12,444,954 (GRCm39) |
missense |
probably benign |
|
|
R2878:Vmn2r56
|
UTSW |
7 |
12,444,954 (GRCm39) |
missense |
probably benign |
|
|
R4910:Vmn2r56
|
UTSW |
7 |
12,449,462 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5072:Vmn2r56
|
UTSW |
7 |
12,427,983 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5340:Vmn2r56
|
UTSW |
7 |
12,449,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5697:Vmn2r56
|
UTSW |
7 |
12,449,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Vmn2r56
|
UTSW |
7 |
12,446,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6166:Vmn2r56
|
UTSW |
7 |
12,427,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Vmn2r56
|
UTSW |
7 |
12,428,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Vmn2r56
|
UTSW |
7 |
12,427,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6751:Vmn2r56
|
UTSW |
7 |
12,428,719 (GRCm39) |
missense |
probably benign |
|
|
R6978:Vmn2r56
|
UTSW |
7 |
12,449,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7090:Vmn2r56
|
UTSW |
7 |
12,449,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7200:Vmn2r56
|
UTSW |
7 |
12,444,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Vmn2r56
|
UTSW |
7 |
12,449,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8222:Vmn2r56
|
UTSW |
7 |
12,444,960 (GRCm39) |
missense |
probably benign |
|
|
R8282:Vmn2r56
|
UTSW |
7 |
12,449,601 (GRCm39) |
nonsense |
probably null |
|
|
R8786:Vmn2r56
|
UTSW |
7 |
12,449,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Vmn2r56
|
UTSW |
7 |
12,428,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Vmn2r56
|
UTSW |
7 |
12,444,237 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
RF002:Vmn2r56
|
UTSW |
7 |
12,428,757 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGAGGAGAGAACCATGTTGGAC -3'
(R):5'- CCGGGTGGCCCAGAGTTTC -3'
Sequencing Primer
(F):5'- CATGTTGGACATGGGGAGAATATTTC -3'
(R):5'- ACACTGGGCTTCTCTATTCGAAAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation