Incidental Mutation 'R7941:Vmn2r92'
| ID |
649071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r92
|
| Ensembl Gene |
ENSMUSG00000091350 |
| Gene Name |
vomeronasal 2, receptor 92 |
| Synonyms |
EG627111 |
| MMRRC Submission |
045987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7941 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18372192-18405440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18405099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 748
(S748P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169686]
|
| AlphaFold |
L7N2A4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169686
AA Change: S748P
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128685
Gene: ENSMUSG00000091350
AA Change: S748P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,579,691 (GRCm39) |
|
probably benign |
Het |
| AI467606 |
A |
G |
7: 126,691,593 (GRCm39) |
E56G |
probably damaging |
Het |
| Ak9 |
C |
T |
10: 41,285,133 (GRCm39) |
P1403S |
unknown |
Het |
| Akr1c14 |
A |
G |
13: 4,109,713 (GRCm39) |
K28E |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Anks1b |
A |
T |
10: 90,413,017 (GRCm39) |
N55I |
probably damaging |
Het |
| Cabyr |
T |
C |
18: 12,877,825 (GRCm39) |
L54P |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,845,370 (GRCm39) |
N954I |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Chst10 |
T |
A |
1: 38,910,772 (GRCm39) |
I131L |
probably damaging |
Het |
| Cluh |
A |
T |
11: 74,550,583 (GRCm39) |
M270L |
probably benign |
Het |
| Dagla |
T |
C |
19: 10,248,867 (GRCm39) |
H29R |
probably damaging |
Het |
| Dusp5 |
A |
G |
19: 53,525,964 (GRCm39) |
N202S |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,947,612 (GRCm39) |
I110T |
possibly damaging |
Het |
| Fam222b |
G |
T |
11: 78,045,885 (GRCm39) |
G482V |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,543,699 (GRCm39) |
L316P |
probably damaging |
Het |
| Gad1 |
T |
A |
2: 70,424,929 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
T |
C |
17: 34,218,305 (GRCm39) |
T204A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,525,835 (GRCm39) |
V3296A |
possibly damaging |
Het |
| Hyal1 |
T |
C |
9: 107,455,299 (GRCm39) |
F203S |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,332,037 (GRCm39) |
D181V |
probably damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,901,631 (GRCm39) |
F69L |
probably damaging |
Het |
| Klf4 |
G |
A |
4: 55,531,755 (GRCm39) |
|
probably benign |
Het |
| Lsr |
T |
G |
7: 30,672,520 (GRCm39) |
I27L |
probably benign |
Het |
| Mettl4 |
A |
T |
17: 95,040,622 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
G |
4: 81,200,987 (GRCm39) |
V1902A |
probably benign |
Het |
| Nfkbiz |
C |
T |
16: 55,642,307 (GRCm39) |
G37D |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,248 (GRCm39) |
V31A |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,642,663 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,332,133 (GRCm39) |
D429G |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,785,887 (GRCm39) |
V131D |
probably benign |
Het |
| Prelid2 |
A |
T |
18: 42,065,816 (GRCm39) |
L73* |
probably null |
Het |
| Psg20 |
T |
A |
7: 18,415,102 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rab24 |
C |
T |
13: 55,468,120 (GRCm39) |
|
probably null |
Het |
| Rag1 |
T |
G |
2: 101,472,691 (GRCm39) |
K817T |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,150,713 (GRCm39) |
V57A |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,510,659 (GRCm39) |
M80T |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,842,883 (GRCm39) |
I283T |
probably damaging |
Het |
| Skint2 |
C |
A |
4: 112,483,187 (GRCm39) |
N197K |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,266,730 (GRCm39) |
I126T |
probably damaging |
Het |
| Srcap |
GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT |
7: 127,157,462 (GRCm39) |
|
probably benign |
Het |
| Svip |
T |
C |
7: 51,653,161 (GRCm39) |
K51R |
probably benign |
Het |
| Syndig1 |
T |
A |
2: 149,741,708 (GRCm39) |
V98E |
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,033,517 (GRCm39) |
M297K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,749,694 (GRCm39) |
V3785A |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,035,924 (GRCm39) |
S135P |
probably damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,144,306 (GRCm39) |
M548K |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,579,409 (GRCm39) |
Y661C |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
probably benign |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,251,599 (GRCm39) |
I212V |
probably benign |
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 |
|
R0227: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 |
|
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'- GTTTTCCAGGGCGAATAGTAAGG -3'
(R):5'- CTGTGCTGGAAGCCAAGATAG -3'
Sequencing Primer
(F):5'- GTGGCTAATGATATCAAGGGGTCC -3'
(R):5'- GAGAATACTTCCATAGCCATCATG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation