Incidental Mutation 'R6509:Vmn1r195'
| ID |
519872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r195
|
| Ensembl Gene |
ENSMUSG00000069296 |
| Gene Name |
vomeronasal 1 receptor 195 |
| Synonyms |
V1ri6 |
| MMRRC Submission |
044422-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6509 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
22462487-22463574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22463279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 250
(G250R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091736]
[ENSMUST00000228711]
|
| AlphaFold |
Q5SVD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091736
AA Change: G250R
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089330
Gene: ENSMUSG00000069296
AA Change: G250R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
34 |
300 |
5.6e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228711
AA Change: G250R
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
G |
A |
5: 109,885,250 (GRCm39) |
R203* |
probably null |
Het |
| Ccnc |
A |
G |
4: 21,740,642 (GRCm39) |
N133D |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,477,256 (GRCm39) |
T15I |
probably benign |
Het |
| Lbhd2 |
A |
G |
12: 111,376,747 (GRCm39) |
R65G |
possibly damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,395,240 (GRCm39) |
S62P |
probably benign |
Het |
| Map3k1 |
T |
A |
13: 111,890,363 (GRCm39) |
M1279L |
possibly damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,391,376 (GRCm39) |
R475Q |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,341 (GRCm39) |
N355I |
probably damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,439 (GRCm39) |
V246A |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,333,298 (GRCm39) |
F241S |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,883,204 (GRCm39) |
S705P |
probably benign |
Het |
| Rsbn1 |
A |
G |
3: 103,867,348 (GRCm39) |
Y563C |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,181,253 (GRCm39) |
I18V |
probably benign |
Het |
| Sycp2 |
G |
A |
2: 178,037,687 (GRCm39) |
P153S |
probably damaging |
Het |
| Tbc1d4 |
C |
A |
14: 101,845,754 (GRCm39) |
R48L |
possibly damaging |
Het |
| Vmn2r66 |
G |
T |
7: 84,656,054 (GRCm39) |
P321T |
probably benign |
Het |
|
| Other mutations in Vmn1r195 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01751:Vmn1r195
|
APN |
13 |
22,463,421 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01752:Vmn1r195
|
APN |
13 |
22,463,421 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01780:Vmn1r195
|
APN |
13 |
22,463,255 (GRCm39) |
missense |
probably benign |
0.34 |
|
PIT4812001:Vmn1r195
|
UTSW |
13 |
22,463,033 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0066:Vmn1r195
|
UTSW |
13 |
22,463,409 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0066:Vmn1r195
|
UTSW |
13 |
22,463,409 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0350:Vmn1r195
|
UTSW |
13 |
22,463,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Vmn1r195
|
UTSW |
13 |
22,463,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Vmn1r195
|
UTSW |
13 |
22,463,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Vmn1r195
|
UTSW |
13 |
22,463,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Vmn1r195
|
UTSW |
13 |
22,463,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1464:Vmn1r195
|
UTSW |
13 |
22,463,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1999:Vmn1r195
|
UTSW |
13 |
22,462,934 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2150:Vmn1r195
|
UTSW |
13 |
22,462,934 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4924:Vmn1r195
|
UTSW |
13 |
22,463,189 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5190:Vmn1r195
|
UTSW |
13 |
22,462,556 (GRCm39) |
nonsense |
probably null |
|
|
R5522:Vmn1r195
|
UTSW |
13 |
22,463,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Vmn1r195
|
UTSW |
13 |
22,462,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7288:Vmn1r195
|
UTSW |
13 |
22,463,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Vmn1r195
|
UTSW |
13 |
22,462,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Vmn1r195
|
UTSW |
13 |
22,463,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7810:Vmn1r195
|
UTSW |
13 |
22,463,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8704:Vmn1r195
|
UTSW |
13 |
22,463,058 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8916:Vmn1r195
|
UTSW |
13 |
22,463,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Vmn1r195
|
UTSW |
13 |
22,463,335 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9255:Vmn1r195
|
UTSW |
13 |
22,463,342 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9390:Vmn1r195
|
UTSW |
13 |
22,462,535 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9802:Vmn1r195
|
UTSW |
13 |
22,463,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAGGTACACAGTTAAGTGGC -3'
(R):5'- TGTTTCCTCAACTTGCCAATGAG -3'
Sequencing Primer
(F):5'- AGGTACACAGTTAAGTGGCTTTTCC -3'
(R):5'- AACTTGCCAATGAGTGTGCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation