Incidental Mutation 'R5958:Vmn2r27'
| ID |
471282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r27
|
| Ensembl Gene |
ENSMUSG00000072778 |
| Gene Name |
vomeronasal 2, receptor27 |
| Synonyms |
EG232367 |
| MMRRC Submission |
044145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124168555-124208743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124208686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 20
(M20L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100968]
|
| AlphaFold |
D3YUK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100968
AA Change: M20L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000098528
Gene: ENSMUSG00000072778
AA Change: M20L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
| Validation Efficiency |
95% (75/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,030,367 (GRCm39) |
D616G |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,069,280 (GRCm39) |
N243S |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,425,822 (GRCm39) |
I417V |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,016,556 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
G |
1: 179,574,107 (GRCm39) |
|
probably benign |
Het |
| Ap1s3 |
G |
T |
1: 79,591,960 (GRCm39) |
T130K |
probably benign |
Het |
| Apold1 |
C |
T |
6: 134,960,686 (GRCm39) |
R47C |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,157,860 (GRCm39) |
K197E |
probably damaging |
Het |
| Camk2d |
T |
G |
3: 126,573,514 (GRCm39) |
|
probably benign |
Het |
| Ccin |
A |
G |
4: 43,983,854 (GRCm39) |
D87G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,554,383 (GRCm39) |
T889A |
possibly damaging |
Het |
| Cel |
T |
A |
2: 28,450,957 (GRCm39) |
Y102F |
probably damaging |
Het |
| Cma1 |
A |
C |
14: 56,179,113 (GRCm39) |
*248E |
probably null |
Het |
| Cnbd1 |
T |
C |
4: 18,862,056 (GRCm39) |
N378S |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,932,231 (GRCm39) |
Y533F |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,520,827 (GRCm39) |
I414T |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,225,788 (GRCm39) |
Y792C |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,651,211 (GRCm39) |
E107D |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,172,415 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,225,131 (GRCm39) |
K1682R |
probably damaging |
Het |
| Epyc |
A |
T |
10: 97,485,704 (GRCm39) |
H48L |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,744 (GRCm39) |
S817P |
|
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,442,429 (GRCm39) |
V693A |
probably benign |
Het |
| Fuom |
A |
T |
7: 139,679,811 (GRCm39) |
F122I |
probably damaging |
Het |
| Glg1 |
G |
T |
8: 111,985,736 (GRCm39) |
H31Q |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,065 (GRCm39) |
|
probably benign |
Het |
| Hdac9 |
G |
T |
12: 34,423,882 (GRCm39) |
Q595K |
probably damaging |
Het |
| Homez |
C |
T |
14: 55,094,298 (GRCm39) |
R119Q |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,589,142 (GRCm39) |
H106R |
probably benign |
Het |
| Ift57 |
C |
T |
16: 49,531,471 (GRCm39) |
|
probably benign |
Het |
| Itk |
A |
T |
11: 46,235,682 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,412,807 (GRCm39) |
K358E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,986,028 (GRCm39) |
V378D |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,698,592 (GRCm39) |
I407T |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,979 (GRCm39) |
T476S |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,915,955 (GRCm39) |
V276I |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,411 (GRCm39) |
F103S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,782,016 (GRCm39) |
L1972P |
probably damaging |
Het |
| Pcsk6 |
A |
G |
7: 65,693,359 (GRCm39) |
E3G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,961,799 (GRCm39) |
L1010S |
probably damaging |
Het |
| Pitpnm3 |
G |
T |
11: 72,003,193 (GRCm39) |
|
probably null |
Het |
| Prrc2b |
A |
G |
2: 32,102,092 (GRCm39) |
M722V |
possibly damaging |
Het |
| Rad18 |
T |
C |
6: 112,673,603 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,049,576 (GRCm39) |
S1036P |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,126,932 (GRCm39) |
A46T |
possibly damaging |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spag6l |
C |
A |
16: 16,580,885 (GRCm39) |
|
probably null |
Het |
| Strc |
T |
C |
2: 121,207,403 (GRCm39) |
H656R |
possibly damaging |
Het |
| Tanc2 |
A |
G |
11: 105,731,451 (GRCm39) |
D409G |
probably benign |
Het |
| Thap11 |
A |
G |
8: 106,582,696 (GRCm39) |
H235R |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,337,261 (GRCm39) |
Y1252F |
probably benign |
Het |
| Tlr11 |
T |
G |
14: 50,598,234 (GRCm39) |
N73K |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,120,523 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
T |
4: 139,182,949 (GRCm39) |
N445I |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,143,510 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,756,398 (GRCm39) |
F702L |
probably benign |
Het |
| Utp14b |
A |
T |
1: 78,642,659 (GRCm39) |
K186* |
probably null |
Het |
| Utp14b |
A |
T |
1: 78,642,660 (GRCm39) |
K186M |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,510,153 (GRCm39) |
M512K |
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 |
|
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 |
|
R8353:Vmn2r27
|
UTSW |
6 |
124,169,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CCCCATAAAGTTGAAGGCAGG -3'
(R):5'- ACTGGTGGGTCTGTATCAGGAC -3'
Sequencing Primer
(F):5'- CATAAAGTTGAAGGCAGGATACATTG -3'
(R):5'- GTCTGTATCAGGACAAAACAATGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation