Incidental Mutation 'R6677:Vmn1r113'
| ID |
527310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r113
|
| Ensembl Gene |
ENSMUSG00000091638 |
| Gene Name |
vomeronasal 1 receptor 113 |
| Synonyms |
Gm5748 |
| MMRRC Submission |
044796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
20521210-20522133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20521903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 232
(G232S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168794]
[ENSMUST00000173723]
|
| AlphaFold |
G3UWI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168794
AA Change: G222S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126041
Gene: ENSMUSG00000091638
AA Change: G222S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
288 |
4.2e-8 |
PFAM |
|
Pfam:V1R
|
41 |
288 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173723
AA Change: G232S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133307
Gene: ENSMUSG00000091638
AA Change: G232S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
298 |
4e-16 |
PFAM |
|
Pfam:7tm_1
|
31 |
290 |
9.3e-7 |
PFAM |
|
Pfam:V1R
|
41 |
298 |
5e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,261,381 (GRCm39) |
H713Q |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,079,869 (GRCm39) |
T1874A |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,000,218 (GRCm39) |
I289M |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,618,311 (GRCm39) |
D654G |
probably damaging |
Het |
| Bbox1 |
C |
A |
2: 110,135,770 (GRCm39) |
D70Y |
probably damaging |
Het |
| Blzf1 |
A |
T |
1: 164,130,181 (GRCm39) |
V50D |
possibly damaging |
Het |
| Ccdc168 |
G |
T |
1: 44,097,859 (GRCm39) |
R1080S |
probably benign |
Het |
| Cfap65 |
C |
A |
1: 74,943,844 (GRCm39) |
D1556Y |
probably damaging |
Het |
| Chrm2 |
A |
T |
6: 36,501,027 (GRCm39) |
N295Y |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,529,145 (GRCm39) |
E843V |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,653,855 (GRCm39) |
N701Y |
possibly damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,166,380 (GRCm39) |
L367F |
possibly damaging |
Het |
| Gm4841 |
A |
T |
18: 60,403,652 (GRCm39) |
F147Y |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,485,445 (GRCm39) |
T500A |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,102,228 (GRCm39) |
V1951I |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,123,898 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,444 (GRCm39) |
V359A |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,401,610 (GRCm39) |
D911E |
probably damaging |
Het |
| Or13a23-ps1 |
T |
G |
7: 140,118,465 (GRCm39) |
F12V |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,962,131 (GRCm39) |
|
probably benign |
Het |
| Qrfprl |
A |
T |
6: 65,433,229 (GRCm39) |
I350F |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,484 (GRCm39) |
R125G |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,866,953 (GRCm39) |
D103G |
probably damaging |
Het |
| Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
| Shroom1 |
G |
A |
11: 53,354,343 (GRCm39) |
A88T |
possibly damaging |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Sult5a1 |
A |
G |
8: 123,876,017 (GRCm39) |
F100L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,990,942 (GRCm39) |
Q579R |
possibly damaging |
Het |
| Zic5 |
C |
G |
14: 122,702,566 (GRCm39) |
R55P |
unknown |
Het |
|
| Other mutations in Vmn1r113 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01908:Vmn1r113
|
APN |
7 |
20,521,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Vmn1r113
|
APN |
7 |
20,521,672 (GRCm39) |
missense |
probably benign |
|
|
IGL02148:Vmn1r113
|
APN |
7 |
20,521,747 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03169:Vmn1r113
|
APN |
7 |
20,522,012 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0593:Vmn1r113
|
UTSW |
7 |
20,521,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0669:Vmn1r113
|
UTSW |
7 |
20,521,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1212:Vmn1r113
|
UTSW |
7 |
20,521,356 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1693:Vmn1r113
|
UTSW |
7 |
20,521,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2228:Vmn1r113
|
UTSW |
7 |
20,521,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Vmn1r113
|
UTSW |
7 |
20,521,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4209:Vmn1r113
|
UTSW |
7 |
20,521,535 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5038:Vmn1r113
|
UTSW |
7 |
20,521,419 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6306:Vmn1r113
|
UTSW |
7 |
20,521,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6623:Vmn1r113
|
UTSW |
7 |
20,521,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6675:Vmn1r113
|
UTSW |
7 |
20,521,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6678:Vmn1r113
|
UTSW |
7 |
20,521,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6968:Vmn1r113
|
UTSW |
7 |
20,521,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Vmn1r113
|
UTSW |
7 |
20,521,427 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7256:Vmn1r113
|
UTSW |
7 |
20,521,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Vmn1r113
|
UTSW |
7 |
20,521,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9131:Vmn1r113
|
UTSW |
7 |
20,521,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTTGTTCTGTTCCACTTCTGG -3'
(R):5'- GCCACTCTGATTTTCAACAGTTG -3'
Sequencing Primer
(F):5'- TCCACTTCTGGATTCAGTGTG -3'
(R):5'- TCTCTGAAGATCAACAGTAAAGGAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation