Incidental Mutation 'R4549:Vmn1r81'
ID |
333893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r81
|
Ensembl Gene |
ENSMUSG00000115027 |
Gene Name |
vomeronasal 1 receptor 81 |
Synonyms |
V1rg9 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.822)
|
Stock # |
R4549 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
11993686-11994606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 11993749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 286
(F286L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086232]
[ENSMUST00000227080]
[ENSMUST00000227973]
[ENSMUST00000228482]
[ENSMUST00000228764]
|
AlphaFold |
A0A2I3BPG7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086232
AA Change: F286L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000083409 Gene: ENSMUSG00000115027 AA Change: F286L
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
3 |
301 |
5.4e-12 |
PFAM |
Pfam:V1R
|
34 |
299 |
6.6e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227080
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227973
AA Change: F286L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228482
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228764
AA Change: F286L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adpgk |
G |
A |
9: 59,217,511 (GRCm39) |
V175I |
probably damaging |
Het |
Aldh7a1 |
A |
G |
18: 56,665,066 (GRCm39) |
V371A |
probably benign |
Het |
Ankrd60 |
T |
A |
2: 173,414,395 (GRCm39) |
T125S |
possibly damaging |
Het |
Ap1m1 |
T |
A |
8: 72,994,064 (GRCm39) |
Y7N |
probably damaging |
Het |
Carmil3 |
G |
A |
14: 55,743,121 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
A |
2: 82,819,972 (GRCm39) |
L5235H |
probably damaging |
Het |
Galnt17 |
A |
G |
5: 131,179,775 (GRCm39) |
L124P |
probably damaging |
Het |
Gnpda2 |
T |
A |
5: 69,743,872 (GRCm39) |
E54D |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Ly6f |
T |
A |
15: 75,143,579 (GRCm39) |
N95K |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,486 (GRCm39) |
D2425G |
possibly damaging |
Het |
Prkdc |
G |
A |
16: 15,554,734 (GRCm39) |
E2152K |
possibly damaging |
Het |
Serpinb6e |
T |
A |
13: 34,017,214 (GRCm39) |
T269S |
possibly damaging |
Het |
Smg1 |
A |
G |
7: 117,758,906 (GRCm39) |
|
probably benign |
Het |
Snapc1 |
C |
A |
12: 74,017,053 (GRCm39) |
D9E |
probably damaging |
Het |
Syt8 |
G |
T |
7: 141,993,199 (GRCm39) |
V35L |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trappc10 |
T |
C |
10: 78,067,292 (GRCm39) |
R49G |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,649,221 (GRCm39) |
K656N |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,214,073 (GRCm39) |
V295A |
probably benign |
Het |
|
Other mutations in Vmn1r81 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02026:Vmn1r81
|
APN |
7 |
11,994,432 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02086:Vmn1r81
|
APN |
7 |
11,993,792 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02751:Vmn1r81
|
APN |
7 |
11,994,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02879:Vmn1r81
|
APN |
7 |
11,994,319 (GRCm39) |
missense |
probably benign |
0.20 |
IGL03358:Vmn1r81
|
APN |
7 |
11,994,232 (GRCm39) |
missense |
possibly damaging |
0.57 |
PIT4305001:Vmn1r81
|
UTSW |
7 |
11,994,590 (GRCm39) |
missense |
probably benign |
0.01 |
R0359:Vmn1r81
|
UTSW |
7 |
11,993,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R1615:Vmn1r81
|
UTSW |
7 |
11,994,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Vmn1r81
|
UTSW |
7 |
11,994,589 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2967:Vmn1r81
|
UTSW |
7 |
11,993,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R2983:Vmn1r81
|
UTSW |
7 |
11,994,596 (GRCm39) |
missense |
probably benign |
0.02 |
R5099:Vmn1r81
|
UTSW |
7 |
11,994,248 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5326:Vmn1r81
|
UTSW |
7 |
11,994,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R5542:Vmn1r81
|
UTSW |
7 |
11,994,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R6010:Vmn1r81
|
UTSW |
7 |
11,994,349 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6630:Vmn1r81
|
UTSW |
7 |
11,994,584 (GRCm39) |
nonsense |
probably null |
|
R6724:Vmn1r81
|
UTSW |
7 |
11,994,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R6754:Vmn1r81
|
UTSW |
7 |
11,993,774 (GRCm39) |
missense |
probably damaging |
0.98 |
R8198:Vmn1r81
|
UTSW |
7 |
11,993,882 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9719:Vmn1r81
|
UTSW |
7 |
11,994,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R9790:Vmn1r81
|
UTSW |
7 |
11,994,113 (GRCm39) |
missense |
probably benign |
0.15 |
R9791:Vmn1r81
|
UTSW |
7 |
11,994,113 (GRCm39) |
missense |
probably benign |
0.15 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCCCAGATGTATTTTCTCCTAG -3'
(R):5'- TTCTGAAAGTCTCGCCTGAGG -3'
Sequencing Primer
(F):5'- AGATGTATTTTCTCCTAGTCTCCTAC -3'
(R):5'- GCCTGAGGACAGAGCTACAC -3'
|
Posted On |
2015-08-18 |