Incidental Mutation 'R3435:Vmn1r209'
| ID |
267164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r209
|
| Ensembl Gene |
ENSMUSG00000071491 |
| Gene Name |
vomeronasal 1 receptor 209 |
| Synonyms |
Gm11315 |
| MMRRC Submission |
040653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R3435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22989750-22990688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22990267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 141
(M141K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095961]
[ENSMUST00000227038]
[ENSMUST00000227265]
|
| AlphaFold |
Q5NC97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095961
AA Change: M141K
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093657
Gene: ENSMUSG00000071491
AA Change: M141K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
2 |
294 |
9.8e-9 |
PFAM |
|
Pfam:V1R
|
34 |
297 |
3e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227038
AA Change: M141K
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227265
AA Change: M141K
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
C |
2: 68,432,189 (GRCm39) |
D91A |
unknown |
Het |
| Abca9 |
T |
C |
11: 110,045,256 (GRCm39) |
E359G |
probably benign |
Het |
| Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,631 (GRCm39) |
D150G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
| Gm19965 |
C |
A |
1: 116,749,353 (GRCm39) |
H345N |
possibly damaging |
Het |
| Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,001,911 (GRCm39) |
I384V |
probably benign |
Het |
| Lrrc57 |
T |
A |
2: 120,439,862 (GRCm39) |
|
probably benign |
Het |
| Mafk |
C |
T |
5: 139,786,062 (GRCm39) |
Q87* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
| Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,245,964 (GRCm39) |
V532A |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,637 (GRCm39) |
R293G |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,690 (GRCm39) |
Q138L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,050 (GRCm39) |
N149K |
possibly damaging |
Het |
| P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,354,543 (GRCm39) |
L354P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,178,772 (GRCm39) |
M889L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,874,174 (GRCm39) |
Q52L |
possibly damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,294 (GRCm39) |
E320G |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,644 (GRCm39) |
L937Q |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,571,558 (GRCm39) |
S563P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,298,565 (GRCm39) |
D1114G |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,546,028 (GRCm39) |
V203E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,709,062 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn1r209 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01773:Vmn1r209
|
APN |
13 |
22,990,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Vmn1r209
|
APN |
13 |
22,989,832 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02738:Vmn1r209
|
APN |
13 |
22,990,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL03177:Vmn1r209
|
APN |
13 |
22,990,024 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03199:Vmn1r209
|
APN |
13 |
22,990,220 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0437:Vmn1r209
|
UTSW |
13 |
22,990,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0497:Vmn1r209
|
UTSW |
13 |
22,990,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Vmn1r209
|
UTSW |
13 |
22,990,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1496:Vmn1r209
|
UTSW |
13 |
22,989,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1644:Vmn1r209
|
UTSW |
13 |
22,990,652 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1829:Vmn1r209
|
UTSW |
13 |
22,990,409 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2360:Vmn1r209
|
UTSW |
13 |
22,989,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Vmn1r209
|
UTSW |
13 |
22,990,267 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4082:Vmn1r209
|
UTSW |
13 |
22,989,785 (GRCm39) |
missense |
probably null |
0.15 |
|
R4451:Vmn1r209
|
UTSW |
13 |
22,990,668 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4616:Vmn1r209
|
UTSW |
13 |
22,990,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Vmn1r209
|
UTSW |
13 |
22,990,619 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4801:Vmn1r209
|
UTSW |
13 |
22,989,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Vmn1r209
|
UTSW |
13 |
22,989,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Vmn1r209
|
UTSW |
13 |
22,990,202 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6035:Vmn1r209
|
UTSW |
13 |
22,990,202 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6908:Vmn1r209
|
UTSW |
13 |
22,990,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7162:Vmn1r209
|
UTSW |
13 |
22,990,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Vmn1r209
|
UTSW |
13 |
22,990,664 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8328:Vmn1r209
|
UTSW |
13 |
22,990,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8335:Vmn1r209
|
UTSW |
13 |
22,989,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Vmn1r209
|
UTSW |
13 |
22,990,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8919:Vmn1r209
|
UTSW |
13 |
22,990,223 (GRCm39) |
missense |
probably benign |
|
|
R8932:Vmn1r209
|
UTSW |
13 |
22,990,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9307:Vmn1r209
|
UTSW |
13 |
22,990,072 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9343:Vmn1r209
|
UTSW |
13 |
22,990,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATACCATGTAGCCACTGG -3'
(R):5'- ATTGCCAAAGACAGTAGCAGC -3'
Sequencing Primer
(F):5'- ACTGGCCCCTCCCATAG -3'
(R):5'- GGTTTGAGAAACTTCCTAGATGCC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation