Incidental Mutation 'R6183:Vmn2r66'
| ID |
487624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r66
|
| Ensembl Gene |
ENSMUSG00000094950 |
| Gene Name |
vomeronasal 2, receptor 66 |
| Synonyms |
F830104D24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
84994645-85012020 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84995558 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 548
(D548G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124773]
|
| AlphaFold |
A0A3B2W842 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124773
AA Change: D548G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122645
Gene: ENSMUSG00000094950
AA Change: D548G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
463 |
5e-31 |
PFAM |
|
Pfam:NCD3G
|
507 |
559 |
6e-21 |
PFAM |
|
Pfam:7tm_3
|
589 |
827 |
3.8e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548H24Rik |
T |
C |
5: 31,487,976 (GRCm38) |
Y358H |
probably damaging |
Het |
| 5830411N06Rik |
A |
G |
7: 140,296,034 (GRCm38) |
T404A |
possibly damaging |
Het |
| Abcb4 |
T |
A |
5: 8,918,718 (GRCm38) |
D352E |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,094,370 (GRCm38) |
I972L |
probably damaging |
Het |
| Alg3 |
T |
C |
16: 20,610,641 (GRCm38) |
Y33C |
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,981,752 (GRCm38) |
G816D |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 93,331,239 (GRCm38) |
V145M |
possibly damaging |
Het |
| Clip1 |
A |
G |
5: 123,642,604 (GRCm38) |
S339P |
probably damaging |
Het |
| Col2a1 |
G |
T |
15: 97,988,790 (GRCm38) |
T378N |
unknown |
Het |
| Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,275,568 (GRCm38) |
|
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,861,769 (GRCm38) |
L3207Q |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 77,137,258 (GRCm38) |
T416A |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 102,195,325 (GRCm38) |
I85N |
probably damaging |
Het |
| Etnppl |
T |
C |
3: 130,620,317 (GRCm38) |
C22R |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,299,877 (GRCm38) |
T11A |
probably benign |
Het |
| Gm5458 |
C |
A |
14: 19,599,644 (GRCm38) |
V171L |
probably damaging |
Het |
| Helb |
G |
T |
10: 120,112,998 (GRCm38) |
|
probably null |
Het |
| Hnrnpll |
A |
G |
17: 80,049,876 (GRCm38) |
V237A |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,008,868 (GRCm38) |
T712A |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,306,030 (GRCm38) |
E78G |
possibly damaging |
Het |
| Ighv1-62-2 |
G |
A |
12: 115,446,436 (GRCm38) |
A111V |
probably damaging |
Het |
| Igkv4-63 |
G |
T |
6: 69,378,124 (GRCm38) |
Q58K |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 33,030,923 (GRCm38) |
Y226C |
probably damaging |
Het |
| Khdc1a |
A |
T |
1: 21,350,108 (GRCm38) |
D30V |
possibly damaging |
Het |
| Krtap5-5 |
C |
A |
7: 142,229,787 (GRCm38) |
C42F |
unknown |
Het |
| Lmod3 |
T |
C |
6: 97,252,553 (GRCm38) |
N7D |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 46,850,685 (GRCm38) |
N165S |
probably benign |
Het |
| Ms4a4c |
A |
G |
19: 11,426,229 (GRCm38) |
T192A |
possibly damaging |
Het |
| Ncald |
A |
T |
15: 37,397,232 (GRCm38) |
V68D |
probably damaging |
Het |
| Olfr1507 |
T |
A |
14: 52,490,731 (GRCm38) |
T78S |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,752,262 (GRCm38) |
I162F |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,588,852 (GRCm38) |
T4A |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,458,129 (GRCm38) |
|
probably benign |
Het |
| Rgl1 |
C |
T |
1: 152,586,570 (GRCm38) |
E60K |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,408,491 (GRCm38) |
W21R |
probably benign |
Het |
| Spast |
A |
G |
17: 74,373,358 (GRCm38) |
I438M |
probably damaging |
Het |
| Sptbn5 |
C |
T |
2: 120,059,417 (GRCm38) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm38) |
Q228H |
unknown |
Het |
| Tas1r1 |
A |
G |
4: 152,032,541 (GRCm38) |
I212T |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,275,425 (GRCm38) |
N439D |
probably damaging |
Het |
| Tjp2 |
C |
T |
19: 24,100,791 (GRCm38) |
A913T |
probably damaging |
Het |
| Tnfrsf26 |
A |
G |
7: 143,611,757 (GRCm38) |
L47P |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 71,644,666 (GRCm38) |
S1195T |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,552,245 (GRCm38) |
R1346G |
probably damaging |
Het |
| Vmn1r54 |
T |
A |
6: 90,269,290 (GRCm38) |
M62K |
possibly damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,350,069 (GRCm38) |
D50V |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,443,930 (GRCm38) |
N470K |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 11,147,370 (GRCm38) |
I633N |
possibly damaging |
Het |
|
| Other mutations in Vmn2r66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Vmn2r66
|
APN |
7 |
85,007,091 (GRCm38) |
missense |
probably benign |
|
|
IGL01562:Vmn2r66
|
APN |
7 |
85,007,287 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01689:Vmn2r66
|
APN |
7 |
85,007,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02237:Vmn2r66
|
APN |
7 |
84,994,700 (GRCm38) |
missense |
probably benign |
|
|
IGL02415:Vmn2r66
|
APN |
7 |
85,006,812 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02439:Vmn2r66
|
APN |
7 |
85,005,247 (GRCm38) |
splice site |
probably benign |
|
|
IGL02545:Vmn2r66
|
APN |
7 |
85,006,590 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02708:Vmn2r66
|
APN |
7 |
85,006,588 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02794:Vmn2r66
|
APN |
7 |
84,995,415 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02885:Vmn2r66
|
APN |
7 |
84,995,515 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02975:Vmn2r66
|
APN |
7 |
85,006,974 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03027:Vmn2r66
|
APN |
7 |
84,995,569 (GRCm38) |
splice site |
probably benign |
|
|
IGL03081:Vmn2r66
|
APN |
7 |
85,007,930 (GRCm38) |
missense |
probably benign |
|
|
PIT4131001:Vmn2r66
|
UTSW |
7 |
84,995,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0098:Vmn2r66
|
UTSW |
7 |
85,005,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0504:Vmn2r66
|
UTSW |
7 |
85,006,815 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0557:Vmn2r66
|
UTSW |
7 |
84,994,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0617:Vmn2r66
|
UTSW |
7 |
84,995,276 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0883:Vmn2r66
|
UTSW |
7 |
85,007,862 (GRCm38) |
missense |
probably benign |
|
|
R1159:Vmn2r66
|
UTSW |
7 |
84,995,405 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1168:Vmn2r66
|
UTSW |
7 |
85,006,854 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1172:Vmn2r66
|
UTSW |
7 |
85,005,591 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1175:Vmn2r66
|
UTSW |
7 |
85,005,591 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1538:Vmn2r66
|
UTSW |
7 |
84,994,958 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1658:Vmn2r66
|
UTSW |
7 |
85,007,747 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1937:Vmn2r66
|
UTSW |
7 |
84,995,136 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1989:Vmn2r66
|
UTSW |
7 |
85,011,993 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2698:Vmn2r66
|
UTSW |
7 |
84,995,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2890:Vmn2r66
|
UTSW |
7 |
85,011,819 (GRCm38) |
splice site |
probably null |
|
|
R3686:Vmn2r66
|
UTSW |
7 |
84,995,189 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4152:Vmn2r66
|
UTSW |
7 |
85,005,592 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4500:Vmn2r66
|
UTSW |
7 |
85,007,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4618:Vmn2r66
|
UTSW |
7 |
84,995,088 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4656:Vmn2r66
|
UTSW |
7 |
85,011,996 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4668:Vmn2r66
|
UTSW |
7 |
84,994,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4942:Vmn2r66
|
UTSW |
7 |
85,007,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5163:Vmn2r66
|
UTSW |
7 |
85,006,809 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5223:Vmn2r66
|
UTSW |
7 |
85,007,885 (GRCm38) |
missense |
probably benign |
|
|
R5377:Vmn2r66
|
UTSW |
7 |
85,006,818 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5512:Vmn2r66
|
UTSW |
7 |
85,007,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5611:Vmn2r66
|
UTSW |
7 |
85,005,743 (GRCm38) |
nonsense |
probably null |
|
|
R5749:Vmn2r66
|
UTSW |
7 |
85,006,771 (GRCm38) |
nonsense |
probably null |
|
|
R6131:Vmn2r66
|
UTSW |
7 |
84,995,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6509:Vmn2r66
|
UTSW |
7 |
85,006,846 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6930:Vmn2r66
|
UTSW |
7 |
85,012,008 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6992:Vmn2r66
|
UTSW |
7 |
85,005,228 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7015:Vmn2r66
|
UTSW |
7 |
84,995,558 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7302:Vmn2r66
|
UTSW |
7 |
85,005,215 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7516:Vmn2r66
|
UTSW |
7 |
85,011,968 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7763:Vmn2r66
|
UTSW |
7 |
85,005,701 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7814:Vmn2r66
|
UTSW |
7 |
85,007,264 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8077:Vmn2r66
|
UTSW |
7 |
85,006,885 (GRCm38) |
missense |
probably benign |
|
|
R8307:Vmn2r66
|
UTSW |
7 |
85,007,062 (GRCm38) |
missense |
probably benign |
|
|
R8315:Vmn2r66
|
UTSW |
7 |
84,994,724 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8490:Vmn2r66
|
UTSW |
7 |
85,005,586 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8511:Vmn2r66
|
UTSW |
7 |
85,006,818 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8781:Vmn2r66
|
UTSW |
7 |
84,995,147 (GRCm38) |
nonsense |
probably null |
|
|
R8812:Vmn2r66
|
UTSW |
7 |
85,005,685 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9203:Vmn2r66
|
UTSW |
7 |
85,005,742 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9277:Vmn2r66
|
UTSW |
7 |
85,011,956 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTTTCAGGAAGACACAGATTAC -3'
(R):5'- CTTCTATTATCATCTGTTGGACTGG -3'
Sequencing Primer
(F):5'- TTTCAGGAAGACACAGATTACAACAG -3'
(R):5'- ATTATCATCTGTTGGACTGGATTGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation