Incidental Mutation 'R4226:Vmn1r39'
| ID |
320039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r39
|
| Ensembl Gene |
ENSMUSG00000093755 |
| Gene Name |
vomeronasal 1 receptor 39 |
| Synonyms |
Gm5993 |
| MMRRC Submission |
041046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4226 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
66781399-66782316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66781703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 205
(H205R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089918]
[ENSMUST00000226217]
[ENSMUST00000226783]
[ENSMUST00000227285]
[ENSMUST00000227555]
[ENSMUST00000228008]
[ENSMUST00000228651]
[ENSMUST00000228862]
[ENSMUST00000228919]
|
| AlphaFold |
G3UWE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089918
AA Change: H205R
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087364
Gene: ENSMUSG00000093755
AA Change: H205R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
3.5e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226217
AA Change: H205R
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226783
AA Change: H205R
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227285
AA Change: H168R
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227555
AA Change: H205R
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228008
AA Change: H168R
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228651
AA Change: H168R
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228862
AA Change: H205R
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228919
AA Change: H168R
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,690 (GRCm39) |
V279E |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,289,152 (GRCm39) |
V286A |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,504,974 (GRCm39) |
N115S |
probably benign |
Het |
| Aoah |
A |
T |
13: 21,163,696 (GRCm39) |
Y333F |
possibly damaging |
Het |
| Ap4m1 |
A |
T |
5: 138,171,079 (GRCm39) |
R74* |
probably null |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,527,756 (GRCm39) |
I187L |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,664 (GRCm39) |
C360S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,490 (GRCm39) |
N2249D |
probably damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,939,282 (GRCm39) |
I355S |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,132,251 (GRCm39) |
H653Q |
possibly damaging |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm16503 |
C |
T |
4: 147,625,725 (GRCm39) |
S73L |
unknown |
Het |
| Hnrnpll |
A |
T |
17: 80,357,234 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,595 (GRCm39) |
N116S |
possibly damaging |
Het |
| Micu2 |
T |
C |
14: 58,169,742 (GRCm39) |
K203E |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,409,387 (GRCm39) |
W36* |
probably null |
Het |
| Nsd1 |
C |
T |
13: 55,408,214 (GRCm39) |
T1286I |
probably damaging |
Het |
| Or2a56 |
A |
G |
6: 42,932,689 (GRCm39) |
T86A |
probably benign |
Het |
| Or51l14 |
T |
C |
7: 103,100,784 (GRCm39) |
M80T |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Ryr1 |
A |
C |
7: 28,761,576 (GRCm39) |
Y3190* |
probably null |
Het |
| Sec31b |
T |
A |
19: 44,520,149 (GRCm39) |
M212L |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,938,800 (GRCm39) |
E950G |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,083,060 (GRCm39) |
S506T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem236 |
G |
T |
2: 14,179,437 (GRCm39) |
E13* |
probably null |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,240 (GRCm39) |
N2793D |
unknown |
Het |
|
| Other mutations in Vmn1r39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02428:Vmn1r39
|
APN |
6 |
66,781,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0189:Vmn1r39
|
UTSW |
6 |
66,782,181 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1132:Vmn1r39
|
UTSW |
6 |
66,781,428 (GRCm39) |
missense |
probably benign |
|
|
R1803:Vmn1r39
|
UTSW |
6 |
66,781,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1839:Vmn1r39
|
UTSW |
6 |
66,782,217 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2966:Vmn1r39
|
UTSW |
6 |
66,781,715 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3747:Vmn1r39
|
UTSW |
6 |
66,781,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3748:Vmn1r39
|
UTSW |
6 |
66,781,854 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3756:Vmn1r39
|
UTSW |
6 |
66,781,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3905:Vmn1r39
|
UTSW |
6 |
66,781,479 (GRCm39) |
nonsense |
probably null |
|
|
R3912:Vmn1r39
|
UTSW |
6 |
66,782,125 (GRCm39) |
missense |
probably benign |
|
|
R4426:Vmn1r39
|
UTSW |
6 |
66,782,345 (GRCm39) |
splice site |
probably null |
|
|
R5493:Vmn1r39
|
UTSW |
6 |
66,781,754 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6498:Vmn1r39
|
UTSW |
6 |
66,781,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Vmn1r39
|
UTSW |
6 |
66,782,205 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R7592:Vmn1r39
|
UTSW |
6 |
66,781,428 (GRCm39) |
missense |
probably benign |
|
|
R8312:Vmn1r39
|
UTSW |
6 |
66,781,841 (GRCm39) |
missense |
noncoding transcript |
|
|
R9232:Vmn1r39
|
UTSW |
6 |
66,781,580 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9517:Vmn1r39
|
UTSW |
6 |
66,782,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9571:Vmn1r39
|
UTSW |
6 |
66,781,572 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9580:Vmn1r39
|
UTSW |
6 |
66,781,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Vmn1r39
|
UTSW |
6 |
66,781,578 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTTAGCACAAACTTCTGAACAG -3'
(R):5'- AGGCTGTGATGATCAGTCCC -3'
Sequencing Primer
(F):5'- TTAGCACAAACTTCTGAACAGTCAAC -3'
(R):5'- GGCTGTGATGATCAGTCCCAATAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation