Incidental Mutation 'R1314:Vmn2r39'
| ID |
157503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r39
|
| Ensembl Gene |
ENSMUSG00000096658 |
| Gene Name |
vomeronasal 2, receptor 39 |
| Synonyms |
EG545909 |
| MMRRC Submission |
039380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R1314 (G1)
|
| Quality Score |
165 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
9017749-9033681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9017981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 785
(M785K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174388]
|
| AlphaFold |
L7N2E5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174388
AA Change: M785K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134010
Gene: ENSMUSG00000096658
AA Change: M785K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
9.1e-32 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
7.9e-21 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
2.6e-55 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,379,072 (GRCm39) |
L659P |
probably damaging |
Het |
| Cachd1 |
G |
T |
4: 100,832,114 (GRCm39) |
G759C |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,034,418 (GRCm39) |
V95E |
probably damaging |
Het |
| Elp1 |
T |
A |
4: 56,786,647 (GRCm39) |
H432L |
probably benign |
Het |
| Filip1 |
T |
A |
9: 79,727,848 (GRCm39) |
H257L |
probably damaging |
Het |
| Gfi1 |
A |
T |
5: 107,869,740 (GRCm39) |
|
probably null |
Het |
| Golim4 |
T |
C |
3: 75,793,595 (GRCm39) |
E579G |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,592,481 (GRCm39) |
W140R |
probably damaging |
Het |
| Nutm1 |
A |
G |
2: 112,080,154 (GRCm39) |
I587T |
probably benign |
Het |
| Or4c10b |
A |
G |
2: 89,711,221 (GRCm39) |
E17G |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,786,343 (GRCm39) |
S201P |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,482,091 (GRCm39) |
A378V |
possibly damaging |
Het |
| Rarb |
A |
G |
14: 16,508,932 (GRCm38) |
|
probably null |
Het |
| Rfc2 |
T |
A |
5: 134,620,054 (GRCm39) |
N167K |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,623,145 (GRCm39) |
T749A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tectb |
A |
G |
19: 55,172,417 (GRCm39) |
N155D |
probably damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,997,230 (GRCm39) |
P400S |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,665,397 (GRCm39) |
T367A |
probably benign |
Het |
| Zfp819 |
C |
T |
7: 43,266,480 (GRCm39) |
T321I |
probably benign |
Het |
|
| Other mutations in Vmn2r39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02059:Vmn2r39
|
APN |
7 |
9,026,643 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03017:Vmn2r39
|
APN |
7 |
9,017,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1358:Vmn2r39
|
UTSW |
7 |
9,026,687 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1480:Vmn2r39
|
UTSW |
7 |
9,017,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Vmn2r39
|
UTSW |
7 |
9,026,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4120:Vmn2r39
|
UTSW |
7 |
9,026,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4720:Vmn2r39
|
UTSW |
7 |
9,026,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4990:Vmn2r39
|
UTSW |
7 |
9,026,675 (GRCm39) |
missense |
probably benign |
|
|
R5079:Vmn2r39
|
UTSW |
7 |
9,026,489 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5695:Vmn2r39
|
UTSW |
7 |
9,028,150 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6131:Vmn2r39
|
UTSW |
7 |
9,017,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6561:Vmn2r39
|
UTSW |
7 |
9,018,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Vmn2r39
|
UTSW |
7 |
9,026,667 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7122:Vmn2r39
|
UTSW |
7 |
9,017,761 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8793:Vmn2r39
|
UTSW |
7 |
9,028,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Vmn2r39
|
UTSW |
7 |
9,030,684 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Vmn2r39
|
UTSW |
7 |
9,018,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATCACTAGAGCAACCAGTGAGAG -3'
(R):5'- TCCTTGTATCAGGGACACCCAACTAC -3'
Sequencing Primer
(F):5'- TGAGAGTGATTCTAAAACTGGACAC -3'
(R):5'- GATATTGATGAACACTCTCAGCATGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation