Incidental Mutation 'R3622:Vmn1r30'
| ID |
268670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r30
|
| Ensembl Gene |
ENSMUSG00000095670 |
| Gene Name |
vomeronasal 1 receptor 30 |
| Synonyms |
V1rc22, V1rc9 |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
58411833-58420609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58412437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 132
(F132I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078890]
[ENSMUST00000226334]
[ENSMUST00000227466]
[ENSMUST00000228577]
[ENSMUST00000228635]
|
| AlphaFold |
Q8R2D2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078890
AA Change: F132I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000087336
Gene: ENSMUSG00000095670
AA Change: F132I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
29 |
293 |
4.8e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226334
AA Change: F132I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227466
AA Change: F132I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228577
AA Change: F132I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228635
AA Change: F132I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
| Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
probably benign |
Het |
|
| Other mutations in Vmn1r30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01657:Vmn1r30
|
APN |
6 |
58,412,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02432:Vmn1r30
|
APN |
6 |
58,412,655 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02627:Vmn1r30
|
APN |
6 |
58,412,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02870:Vmn1r30
|
APN |
6 |
58,412,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0360:Vmn1r30
|
UTSW |
6 |
58,412,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1071:Vmn1r30
|
UTSW |
6 |
58,412,813 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1335:Vmn1r30
|
UTSW |
6 |
58,412,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Vmn1r30
|
UTSW |
6 |
58,412,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1888:Vmn1r30
|
UTSW |
6 |
58,412,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2483:Vmn1r30
|
UTSW |
6 |
58,412,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3623:Vmn1r30
|
UTSW |
6 |
58,412,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3624:Vmn1r30
|
UTSW |
6 |
58,412,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3744:Vmn1r30
|
UTSW |
6 |
58,412,804 (GRCm39) |
nonsense |
probably null |
|
|
R3762:Vmn1r30
|
UTSW |
6 |
58,412,278 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4483:Vmn1r30
|
UTSW |
6 |
58,412,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4484:Vmn1r30
|
UTSW |
6 |
58,412,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Vmn1r30
|
UTSW |
6 |
58,412,368 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5408:Vmn1r30
|
UTSW |
6 |
58,412,029 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5461:Vmn1r30
|
UTSW |
6 |
58,412,759 (GRCm39) |
nonsense |
probably null |
|
|
R5888:Vmn1r30
|
UTSW |
6 |
58,412,550 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7068:Vmn1r30
|
UTSW |
6 |
58,411,995 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7490:Vmn1r30
|
UTSW |
6 |
58,412,214 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7680:Vmn1r30
|
UTSW |
6 |
58,412,284 (GRCm39) |
nonsense |
probably null |
|
|
R7751:Vmn1r30
|
UTSW |
6 |
58,412,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8516:Vmn1r30
|
UTSW |
6 |
58,412,109 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8728:Vmn1r30
|
UTSW |
6 |
58,412,460 (GRCm39) |
missense |
probably benign |
|
|
R9351:Vmn1r30
|
UTSW |
6 |
58,412,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGTGATCAGCATGACTCC -3'
(R):5'- GCAGTCATACTTGAGTCACTGAAC -3'
Sequencing Primer
(F):5'- CTTGTGATCAGCATGACTCCTACAAG -3'
(R):5'- TGAGTCACTGAACATTGAGAATGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation