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: 0.823)
|
| 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 |
Incidental Mutation