Incidental Mutation 'R2983:Vmn1r81'
| ID |
257121 |
| 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 # |
R2983 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
11993686-11994606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 11994596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 4
(T4I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086232]
[ENSMUST00000227080]
[ENSMUST00000227973]
[ENSMUST00000228482]
[ENSMUST00000228764]
|
| AlphaFold |
A0A2I3BPG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086232
AA Change: T4I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000083409
Gene: ENSMUSG00000115027
AA Change: T4I
| 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
AA Change: T4I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227973
AA Change: T4I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228482
AA Change: T4I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228764
AA Change: T4I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,784 (GRCm39) |
D347G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,867,774 (GRCm39) |
K124E |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,975,241 (GRCm39) |
V1607A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,882,250 (GRCm38) |
V317E |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Kmt2c |
AGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTG |
5: 25,520,755 (GRCm39) |
|
probably benign |
Het |
| Ncs1 |
C |
T |
2: 31,174,708 (GRCm39) |
T144I |
probably damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or5k16 |
T |
A |
16: 58,736,930 (GRCm39) |
T25S |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,824,574 (GRCm39) |
S503T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,321,435 (GRCm39) |
S552L |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,789 (GRCm39) |
V1044A |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,792,927 (GRCm39) |
H60R |
probably benign |
Het |
| Rccd1 |
G |
A |
7: 79,970,276 (GRCm39) |
Q114* |
probably null |
Het |
| Speg |
T |
C |
1: 75,361,574 (GRCm39) |
V90A |
possibly damaging |
Het |
| St8sia1 |
A |
G |
6: 142,909,355 (GRCm39) |
V47A |
probably damaging |
Het |
| Tex264 |
A |
G |
9: 106,559,296 (GRCm39) |
I10T |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
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 |
|
R4549:Vmn1r81
|
UTSW |
7 |
11,993,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GCCTTTTGAGATTAGAGACAAGC -3'
(R):5'- TAGATCTGCCTGCCTCTGTG -3'
Sequencing Primer
(F):5'- CAGTTGGATAAAGTCAAGTGCTC -3'
(R):5'- CCATTAATGTGTACACCATGACATC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation