Incidental Mutation 'R0227:Vmn2r92'
| ID |
34014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r92
|
| Ensembl Gene |
ENSMUSG00000091350 |
| Gene Name |
vomeronasal 2, receptor 92 |
| Synonyms |
EG627111 |
| MMRRC Submission |
038472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0227 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18372192-18405440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18388219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 408
(A408V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169686]
|
| AlphaFold |
L7N2A4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169686
AA Change: A408V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128685
Gene: ENSMUSG00000091350
AA Change: A408V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
83 |
463 |
4.7e-38 |
PFAM |
|
Pfam:NCD3G
|
510 |
564 |
2.5e-19 |
PFAM |
|
Pfam:7tm_3
|
597 |
832 |
1.1e-52 |
PFAM |
|
low complexity region
|
843 |
855 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
| Validation Efficiency |
86% (37/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
A |
T |
7: 136,989,438 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,294,222 (GRCm39) |
T404S |
probably benign |
Het |
| Ap4m1 |
T |
C |
5: 138,174,538 (GRCm39) |
|
probably benign |
Het |
| Atn1 |
A |
T |
6: 124,723,893 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,533 (GRCm39) |
Y202C |
possibly damaging |
Het |
| Ceacam18 |
G |
T |
7: 43,288,815 (GRCm39) |
G189C |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,971,117 (GRCm39) |
W67* |
probably null |
Het |
| Col2a1 |
C |
T |
15: 97,874,636 (GRCm39) |
E1334K |
unknown |
Het |
| Crim1 |
A |
G |
17: 78,651,938 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,441,836 (GRCm39) |
S343P |
probably benign |
Het |
| D430041D05Rik |
G |
T |
2: 104,035,545 (GRCm39) |
D1594E |
possibly damaging |
Het |
| Ess2 |
C |
T |
16: 17,720,135 (GRCm39) |
V406I |
probably damaging |
Het |
| Gcm2 |
C |
T |
13: 41,259,332 (GRCm39) |
V46M |
probably damaging |
Het |
| Gm3486 |
A |
T |
14: 41,206,518 (GRCm39) |
V185E |
probably benign |
Het |
| Gtf3a |
C |
A |
5: 146,892,199 (GRCm39) |
R317S |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,319,510 (GRCm39) |
I320V |
probably benign |
Het |
| Jag1 |
A |
G |
2: 136,957,538 (GRCm39) |
V58A |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,293,184 (GRCm39) |
E1241G |
probably benign |
Het |
| Mogat2 |
T |
A |
7: 98,872,339 (GRCm39) |
I171F |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
T |
11: 75,549,520 (GRCm39) |
Y201F |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,796,806 (GRCm39) |
I884V |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,209,541 (GRCm39) |
I264T |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,229,974 (GRCm39) |
V312A |
probably benign |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,219,831 (GRCm39) |
V98A |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,707,841 (GRCm39) |
D287G |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,565,136 (GRCm39) |
V117A |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,226,968 (GRCm39) |
F697S |
possibly damaging |
Het |
| Son |
T |
A |
16: 91,453,761 (GRCm39) |
M836K |
probably damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,290 (GRCm39) |
M258V |
possibly damaging |
Het |
| Stk10 |
G |
T |
11: 32,567,859 (GRCm39) |
C887F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,907,442 (GRCm39) |
S625P |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,900,258 (GRCm39) |
D821E |
probably damaging |
Het |
| Tafa5 |
T |
C |
15: 87,604,691 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
A |
15: 66,570,295 (GRCm39) |
A1389E |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,713,477 (GRCm39) |
V134M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,561 (GRCm39) |
V242I |
probably benign |
Het |
| Vmn1r63 |
C |
T |
7: 5,805,741 (GRCm39) |
W297* |
probably null |
Het |
| Zic5 |
A |
G |
14: 122,697,073 (GRCm39) |
I514T |
unknown |
Het |
|
| Other mutations in Vmn2r92 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01591:Vmn2r92
|
APN |
17 |
18,405,423 (GRCm39) |
missense |
unknown |
|
|
IGL01758:Vmn2r92
|
APN |
17 |
18,372,275 (GRCm39) |
nonsense |
probably null |
|
|
IGL02614:Vmn2r92
|
APN |
17 |
18,387,503 (GRCm39) |
splice site |
probably benign |
|
|
IGL03095:Vmn2r92
|
APN |
17 |
18,386,972 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03403:Vmn2r92
|
APN |
17 |
18,387,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0133:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0225:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0267:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Vmn2r92
|
UTSW |
17 |
18,389,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0426:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1253:Vmn2r92
|
UTSW |
17 |
18,387,028 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1497:Vmn2r92
|
UTSW |
17 |
18,387,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1571:Vmn2r92
|
UTSW |
17 |
18,372,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1656:Vmn2r92
|
UTSW |
17 |
18,372,198 (GRCm39) |
missense |
probably benign |
|
|
R1816:Vmn2r92
|
UTSW |
17 |
18,386,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2229:Vmn2r92
|
UTSW |
17 |
18,387,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2909:Vmn2r92
|
UTSW |
17 |
18,405,377 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3694:Vmn2r92
|
UTSW |
17 |
18,372,205 (GRCm39) |
nonsense |
probably null |
|
|
R4207:Vmn2r92
|
UTSW |
17 |
18,404,523 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4548:Vmn2r92
|
UTSW |
17 |
18,391,578 (GRCm39) |
missense |
probably benign |
|
|
R4612:Vmn2r92
|
UTSW |
17 |
18,387,132 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4742:Vmn2r92
|
UTSW |
17 |
18,387,119 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4824:Vmn2r92
|
UTSW |
17 |
18,372,183 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4865:Vmn2r92
|
UTSW |
17 |
18,387,634 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4900:Vmn2r92
|
UTSW |
17 |
18,404,605 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5084:Vmn2r92
|
UTSW |
17 |
18,405,439 (GRCm39) |
makesense |
probably null |
|
|
R5140:Vmn2r92
|
UTSW |
17 |
18,372,312 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5995:Vmn2r92
|
UTSW |
17 |
18,389,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6045:Vmn2r92
|
UTSW |
17 |
18,388,305 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6269:Vmn2r92
|
UTSW |
17 |
18,387,036 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6877:Vmn2r92
|
UTSW |
17 |
18,389,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Vmn2r92
|
UTSW |
17 |
18,387,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7260:Vmn2r92
|
UTSW |
17 |
18,387,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Vmn2r92
|
UTSW |
17 |
18,387,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7514:Vmn2r92
|
UTSW |
17 |
18,391,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Vmn2r92
|
UTSW |
17 |
18,387,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7584:Vmn2r92
|
UTSW |
17 |
18,387,028 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7912:Vmn2r92
|
UTSW |
17 |
18,404,970 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7941:Vmn2r92
|
UTSW |
17 |
18,405,099 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8178:Vmn2r92
|
UTSW |
17 |
18,386,988 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8238:Vmn2r92
|
UTSW |
17 |
18,405,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8239:Vmn2r92
|
UTSW |
17 |
18,405,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8252:Vmn2r92
|
UTSW |
17 |
18,387,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Vmn2r92
|
UTSW |
17 |
18,386,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8355:Vmn2r92
|
UTSW |
17 |
18,405,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9399:Vmn2r92
|
UTSW |
17 |
18,389,137 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9639:Vmn2r92
|
UTSW |
17 |
18,372,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9747:Vmn2r92
|
UTSW |
17 |
18,405,201 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9773:Vmn2r92
|
UTSW |
17 |
18,386,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Vmn2r92
|
UTSW |
17 |
18,405,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r92
|
UTSW |
17 |
18,404,795 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGTGGTATTTCTTCTTCAAGTGCTC -3'
(R):5'- GCTCCGGTGTTGAAAATGAGGGT -3'
Sequencing Primer
(F):5'- CTTCAAGTGCTCATTTGCTGG -3'
(R):5'- TGTACAGCTAGATACTGATGACAAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation