Incidental Mutation 'R8353:Vmn2r27'
| ID |
660530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r27
|
| Ensembl Gene |
ENSMUSG00000072778 |
| Gene Name |
vomeronasal 2, receptor27 |
| Synonyms |
EG232367 |
| MMRRC Submission |
067805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124168555-124208743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 124169404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 575
(N575K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100968]
|
| AlphaFold |
D3YUK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100968
AA Change: N575K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098528
Gene: ENSMUSG00000072778
AA Change: N575K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
81 |
475 |
1.1e-27 |
PFAM |
|
Pfam:NCD3G
|
519 |
570 |
1.3e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
2.6e-50 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
C |
11: 76,310,659 (GRCm39) |
T752A |
probably damaging |
Het |
| Adar |
A |
G |
3: 89,657,569 (GRCm39) |
T508A |
possibly damaging |
Het |
| Atxn3 |
T |
A |
12: 101,912,159 (GRCm39) |
K85I |
probably benign |
Het |
| Atxn7l1 |
G |
T |
12: 33,197,882 (GRCm39) |
W50L |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,165,251 (GRCm39) |
V894A |
probably damaging |
Het |
| Bloc1s3 |
G |
T |
7: 19,241,324 (GRCm39) |
T68K |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,855,877 (GRCm39) |
|
probably null |
Het |
| Brd10 |
T |
C |
19: 29,731,242 (GRCm39) |
H590R |
possibly damaging |
Het |
| C130073F10Rik |
C |
T |
4: 101,747,881 (GRCm39) |
|
probably null |
Het |
| Cd55b |
T |
C |
1: 130,341,870 (GRCm39) |
I256V |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,703,734 (GRCm39) |
D72E |
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,658,891 (GRCm39) |
D152G |
probably benign |
Het |
| Cip2a |
C |
T |
16: 48,821,436 (GRCm39) |
Q181* |
probably null |
Het |
| Cpne8 |
C |
A |
15: 90,425,496 (GRCm39) |
K285N |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 47,813,349 (GRCm39) |
I1061K |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,805,953 (GRCm39) |
N2255Y |
probably damaging |
Het |
| Cym |
T |
A |
3: 107,129,025 (GRCm39) |
|
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,336,720 (GRCm39) |
V23A |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,005,159 (GRCm39) |
I2365K |
probably benign |
Het |
| Dock5 |
C |
T |
14: 68,054,957 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
T |
9: 86,403,639 (GRCm39) |
H1613L |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,518,113 (GRCm39) |
V122A |
possibly damaging |
Het |
| Emc6 |
A |
G |
11: 73,067,399 (GRCm39) |
L44P |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,422,678 (GRCm39) |
T80K |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,692,822 (GRCm39) |
M32K |
possibly damaging |
Het |
| Gfod1 |
A |
G |
13: 43,354,366 (GRCm39) |
V203A |
possibly damaging |
Het |
| Gjc2 |
G |
A |
11: 59,067,840 (GRCm39) |
A214V |
unknown |
Het |
| Gkn2 |
T |
C |
6: 87,355,135 (GRCm39) |
Y115H |
probably damaging |
Het |
| Gpatch1 |
A |
C |
7: 34,976,704 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
G |
T |
4: 46,403,935 (GRCm39) |
P20Q |
possibly damaging |
Het |
| Herc1 |
G |
T |
9: 66,415,571 (GRCm39) |
V4849L |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,275,353 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
A |
5: 35,034,499 (GRCm39) |
T1990N |
possibly damaging |
Het |
| Jrk |
C |
T |
15: 74,578,474 (GRCm39) |
W270* |
probably null |
Het |
| Katnb1 |
A |
G |
8: 95,822,072 (GRCm39) |
D266G |
probably damaging |
Het |
| Klhl42 |
A |
G |
6: 147,009,421 (GRCm39) |
K420R |
probably damaging |
Het |
| Lamb1 |
C |
A |
12: 31,356,998 (GRCm39) |
T1035K |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,656,079 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,240,971 (GRCm39) |
S22P |
probably benign |
Het |
| Mn1 |
A |
G |
5: 111,568,505 (GRCm39) |
N825S |
possibly damaging |
Het |
| Mup17 |
C |
T |
4: 61,510,419 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
T |
A |
9: 26,983,100 (GRCm39) |
D949E |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,570,155 (GRCm39) |
E230G |
probably damaging |
Het |
| Nxnl1 |
A |
G |
8: 72,015,512 (GRCm39) |
V132A |
probably damaging |
Het |
| Oard1 |
A |
G |
17: 48,723,788 (GRCm39) |
I145V |
probably benign |
Het |
| Pabpc4 |
T |
G |
4: 123,189,846 (GRCm39) |
L555R |
probably benign |
Het |
| Ppp1r11 |
G |
T |
17: 37,260,866 (GRCm39) |
S21R |
possibly damaging |
Het |
| Prr36 |
T |
C |
8: 4,263,831 (GRCm39) |
|
probably benign |
Het |
| Serpina1a |
T |
A |
12: 103,822,038 (GRCm39) |
D298V |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,196,314 (GRCm39) |
H369L |
possibly damaging |
Het |
| Stambp |
T |
C |
6: 83,538,881 (GRCm39) |
E173G |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,300,983 (GRCm39) |
N915S |
probably damaging |
Het |
| Tjap1 |
C |
A |
17: 46,593,530 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
A |
C |
2: 120,814,817 (GRCm39) |
K30T |
probably damaging |
Het |
| Tmtc1 |
T |
C |
6: 148,327,346 (GRCm39) |
T56A |
probably benign |
Het |
| Trav6-4 |
A |
T |
14: 53,691,946 (GRCm39) |
M18L |
probably benign |
Het |
| Trim69 |
T |
C |
2: 121,998,490 (GRCm39) |
I154T |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,209,377 (GRCm39) |
|
probably null |
Het |
| Usp48 |
T |
A |
4: 137,350,693 (GRCm39) |
M60K |
probably benign |
Het |
| Usp7 |
A |
G |
16: 8,513,735 (GRCm39) |
S753P |
probably benign |
Het |
| Wdfy4 |
A |
C |
14: 32,695,581 (GRCm39) |
D2672E |
probably benign |
Het |
| Zdhhc17 |
G |
A |
10: 110,845,803 (GRCm39) |
P30L |
probably benign |
Het |
| Zmym4 |
T |
A |
4: 126,800,905 (GRCm39) |
Y565F |
possibly damaging |
Het |
|
| Other mutations in Vmn2r27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Vmn2r27
|
APN |
6 |
124,169,370 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01388:Vmn2r27
|
APN |
6 |
124,200,791 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01923:Vmn2r27
|
APN |
6 |
124,177,484 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01954:Vmn2r27
|
APN |
6 |
124,169,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02105:Vmn2r27
|
APN |
6 |
124,174,308 (GRCm39) |
splice site |
probably benign |
|
|
IGL02586:Vmn2r27
|
APN |
6 |
124,201,434 (GRCm39) |
nonsense |
probably null |
|
|
IGL03130:Vmn2r27
|
APN |
6 |
124,169,276 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03330:Vmn2r27
|
APN |
6 |
124,207,139 (GRCm39) |
nonsense |
probably null |
|
|
R0124:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0234:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0234:Vmn2r27
|
UTSW |
6 |
124,208,578 (GRCm39) |
missense |
probably benign |
|
|
R0384:Vmn2r27
|
UTSW |
6 |
124,200,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0582:Vmn2r27
|
UTSW |
6 |
124,201,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0733:Vmn2r27
|
UTSW |
6 |
124,169,147 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0738:Vmn2r27
|
UTSW |
6 |
124,200,661 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0835:Vmn2r27
|
UTSW |
6 |
124,177,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1183:Vmn2r27
|
UTSW |
6 |
124,177,491 (GRCm39) |
missense |
probably benign |
|
|
R1401:Vmn2r27
|
UTSW |
6 |
124,168,591 (GRCm39) |
nonsense |
probably null |
|
|
R1484:Vmn2r27
|
UTSW |
6 |
124,177,474 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1536:Vmn2r27
|
UTSW |
6 |
124,177,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Vmn2r27
|
UTSW |
6 |
124,168,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1595:Vmn2r27
|
UTSW |
6 |
124,208,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1614:Vmn2r27
|
UTSW |
6 |
124,200,893 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1742:Vmn2r27
|
UTSW |
6 |
124,177,636 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1816:Vmn2r27
|
UTSW |
6 |
124,207,330 (GRCm39) |
nonsense |
probably null |
|
|
R1822:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1824:Vmn2r27
|
UTSW |
6 |
124,208,593 (GRCm39) |
missense |
probably benign |
|
|
R1870:Vmn2r27
|
UTSW |
6 |
124,201,170 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1942:Vmn2r27
|
UTSW |
6 |
124,200,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Vmn2r27
|
UTSW |
6 |
124,200,793 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2069:Vmn2r27
|
UTSW |
6 |
124,201,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Vmn2r27
|
UTSW |
6 |
124,177,510 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2379:Vmn2r27
|
UTSW |
6 |
124,201,342 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3748:Vmn2r27
|
UTSW |
6 |
124,207,351 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4384:Vmn2r27
|
UTSW |
6 |
124,201,115 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4392:Vmn2r27
|
UTSW |
6 |
124,207,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4758:Vmn2r27
|
UTSW |
6 |
124,208,596 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5018:Vmn2r27
|
UTSW |
6 |
124,201,141 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5235:Vmn2r27
|
UTSW |
6 |
124,169,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5718:Vmn2r27
|
UTSW |
6 |
124,169,103 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5859:Vmn2r27
|
UTSW |
6 |
124,177,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Vmn2r27
|
UTSW |
6 |
124,208,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6044:Vmn2r27
|
UTSW |
6 |
124,208,731 (GRCm39) |
missense |
probably benign |
|
|
R6086:Vmn2r27
|
UTSW |
6 |
124,168,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6396:Vmn2r27
|
UTSW |
6 |
124,201,125 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Vmn2r27
|
UTSW |
6 |
124,169,369 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6746:Vmn2r27
|
UTSW |
6 |
124,177,552 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6976:Vmn2r27
|
UTSW |
6 |
124,201,312 (GRCm39) |
nonsense |
probably null |
|
|
R7091:Vmn2r27
|
UTSW |
6 |
124,200,904 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7145:Vmn2r27
|
UTSW |
6 |
124,168,711 (GRCm39) |
missense |
probably benign |
|
|
R7176:Vmn2r27
|
UTSW |
6 |
124,168,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7382:Vmn2r27
|
UTSW |
6 |
124,174,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7482:Vmn2r27
|
UTSW |
6 |
124,201,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Vmn2r27
|
UTSW |
6 |
124,168,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Vmn2r27
|
UTSW |
6 |
124,201,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7959:Vmn2r27
|
UTSW |
6 |
124,169,040 (GRCm39) |
missense |
probably benign |
|
|
R8266:Vmn2r27
|
UTSW |
6 |
124,168,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8394:Vmn2r27
|
UTSW |
6 |
124,168,776 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8463:Vmn2r27
|
UTSW |
6 |
124,169,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Vmn2r27
|
UTSW |
6 |
124,201,200 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8705:Vmn2r27
|
UTSW |
6 |
124,207,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Vmn2r27
|
UTSW |
6 |
124,201,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9109:Vmn2r27
|
UTSW |
6 |
124,174,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9140:Vmn2r27
|
UTSW |
6 |
124,169,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Vmn2r27
|
UTSW |
6 |
124,201,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9431:Vmn2r27
|
UTSW |
6 |
124,168,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Vmn2r27
|
UTSW |
6 |
124,168,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Vmn2r27
|
UTSW |
6 |
124,168,637 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Vmn2r27
|
UTSW |
6 |
124,168,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTGACTCTTCTAGGTTCACC -3'
(R):5'- GTTCATGTATCCAGGGACATTACC -3'
Sequencing Primer
(F):5'- CACCAATGAACATTAGTGAGCAAAAG -3'
(R):5'- CATGTATCCAGGGACATTACCATTAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation