Incidental Mutation 'R6569:Vmn1r42'
| ID |
526187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r42
|
| Ensembl Gene |
ENSMUSG00000068232 |
| Gene Name |
vomeronasal 1 receptor 42 |
| Synonyms |
V1ra6 |
| MMRRC Submission |
044693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6569 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
89821500-89822597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89822425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 48
(L48P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089419]
[ENSMUST00000226436]
[ENSMUST00000227279]
|
| AlphaFold |
Q8VBS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089419
AA Change: L48P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086840
Gene: ENSMUSG00000068232
AA Change: L48P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
54 |
318 |
3.6e-132 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226436
AA Change: L48P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227279
AA Change: L48P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
A |
6: 85,618,321 (GRCm39) |
V2789D |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,133,560 (GRCm39) |
T567A |
probably damaging |
Het |
| Col7a1 |
T |
G |
9: 108,807,178 (GRCm39) |
|
probably null |
Het |
| Crb2 |
A |
T |
2: 37,682,163 (GRCm39) |
Q173L |
probably damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,913,486 (GRCm39) |
Y377C |
probably damaging |
Het |
| Echdc1 |
T |
C |
10: 29,198,280 (GRCm39) |
M75T |
probably damaging |
Het |
| Faah |
G |
T |
4: 115,874,829 (GRCm39) |
A9E |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,991,163 (GRCm39) |
D627G |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,045,296 (GRCm39) |
V380F |
possibly damaging |
Het |
| Klf4 |
T |
C |
4: 55,530,394 (GRCm39) |
Y239C |
probably damaging |
Het |
| Mkx |
C |
A |
18: 6,992,820 (GRCm39) |
E155* |
probably null |
Het |
| Mmp11 |
G |
A |
10: 75,763,216 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
T |
C |
19: 41,952,807 (GRCm39) |
K101E |
possibly damaging |
Het |
| Mrpl23 |
C |
A |
7: 142,088,776 (GRCm39) |
R44S |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,448,359 (GRCm39) |
F59S |
possibly damaging |
Het |
| Or7e166 |
G |
A |
9: 19,624,638 (GRCm39) |
V172I |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,849 (GRCm39) |
S91P |
possibly damaging |
Het |
| Pcdhgc5 |
C |
T |
18: 37,953,248 (GRCm39) |
P174L |
probably damaging |
Het |
| Phf20l1 |
A |
T |
15: 66,501,673 (GRCm39) |
D619V |
probably damaging |
Het |
| Plcz1 |
C |
T |
6: 139,953,433 (GRCm39) |
A395T |
possibly damaging |
Het |
| Polr1f |
T |
A |
12: 33,487,882 (GRCm39) |
C266S |
probably benign |
Het |
| Rbm45 |
A |
G |
2: 76,209,416 (GRCm39) |
D410G |
probably damaging |
Het |
| Sh3bp1 |
T |
C |
15: 78,795,896 (GRCm39) |
L675P |
probably damaging |
Het |
| Taf6l |
G |
A |
19: 8,750,074 (GRCm39) |
T208I |
probably damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,571,065 (GRCm39) |
I443T |
possibly damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,828,941 (GRCm39) |
V111A |
probably benign |
Het |
|
| Other mutations in Vmn1r42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02055:Vmn1r42
|
APN |
6 |
89,822,571 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02151:Vmn1r42
|
APN |
6 |
89,822,023 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02158:Vmn1r42
|
APN |
6 |
89,822,296 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02731:Vmn1r42
|
APN |
6 |
89,822,407 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02738:Vmn1r42
|
APN |
6 |
89,821,630 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02817:Vmn1r42
|
APN |
6 |
89,822,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
volkan
|
UTSW |
6 |
89,821,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1131:Vmn1r42
|
UTSW |
6 |
89,822,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1500:Vmn1r42
|
UTSW |
6 |
89,822,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1557:Vmn1r42
|
UTSW |
6 |
89,821,733 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1561:Vmn1r42
|
UTSW |
6 |
89,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1857:Vmn1r42
|
UTSW |
6 |
89,821,597 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1858:Vmn1r42
|
UTSW |
6 |
89,821,597 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1916:Vmn1r42
|
UTSW |
6 |
89,821,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2284:Vmn1r42
|
UTSW |
6 |
89,821,681 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2912:Vmn1r42
|
UTSW |
6 |
89,821,688 (GRCm39) |
missense |
probably benign |
|
|
R4541:Vmn1r42
|
UTSW |
6 |
89,822,533 (GRCm39) |
missense |
probably benign |
|
|
R5085:Vmn1r42
|
UTSW |
6 |
89,821,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5384:Vmn1r42
|
UTSW |
6 |
89,822,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Vmn1r42
|
UTSW |
6 |
89,822,084 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5647:Vmn1r42
|
UTSW |
6 |
89,822,314 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5867:Vmn1r42
|
UTSW |
6 |
89,821,761 (GRCm39) |
nonsense |
probably null |
|
|
R6852:Vmn1r42
|
UTSW |
6 |
89,821,769 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7054:Vmn1r42
|
UTSW |
6 |
89,822,051 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7399:Vmn1r42
|
UTSW |
6 |
89,822,495 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7958:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGCTGGTGGTGCAAAG -3'
(R):5'- CTGGGAGTGTAAGGTACAGC -3'
Sequencing Primer
(F):5'- AACTCTGTACAGGTACACAAGG -3'
(R):5'- TGTAAGGTACAGCTGAGATCTTCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation