Incidental Mutation 'R1390:Vmn1r173'
| ID |
162578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r173
|
| Ensembl Gene |
ENSMUSG00000115021 |
| Gene Name |
vomeronasal 1 receptor 173 |
| Synonyms |
Gm5892 |
| MMRRC Submission |
039452-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.621)
|
| Stock # |
R1390 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23401767-23402708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23402323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 186
(V186G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174055]
[ENSMUST00000226233]
[ENSMUST00000227987]
|
| AlphaFold |
E9Q8V7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174055
AA Change: V186G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134645
Gene: ENSMUSG00000115021
AA Change: V186G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
43 |
301 |
5.3e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226233
AA Change: V186G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227987
AA Change: V186G
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
T |
A |
13: 68,805,512 (GRCm39) |
I819F |
possibly damaging |
Het |
| Carm1 |
T |
A |
9: 21,490,789 (GRCm39) |
M219K |
probably damaging |
Het |
| Casd1 |
T |
C |
6: 4,641,859 (GRCm39) |
I712T |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,326,917 (GRCm39) |
V402A |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Galnt3 |
T |
C |
2: 65,921,567 (GRCm39) |
Y488C |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,239,461 (GRCm39) |
I288K |
probably benign |
Het |
| Mcmbp |
A |
C |
7: 128,325,865 (GRCm39) |
M71R |
probably damaging |
Het |
| Nid1 |
T |
G |
13: 13,650,831 (GRCm39) |
L456R |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,984,274 (GRCm39) |
D1752G |
probably damaging |
Het |
| Or4f47 |
A |
G |
2: 111,972,952 (GRCm39) |
I221V |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,285,407 (GRCm39) |
D647V |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
T |
7: 44,006,462 (GRCm39) |
G2060W |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,512,881 (GRCm39) |
S884P |
unknown |
Het |
| Slit2 |
G |
A |
5: 48,374,832 (GRCm39) |
S370N |
probably benign |
Het |
| Sorcs3 |
G |
A |
19: 48,682,440 (GRCm39) |
|
probably null |
Het |
| Strip2 |
G |
T |
6: 29,929,828 (GRCm39) |
R305L |
probably damaging |
Het |
| Trim30d |
T |
C |
7: 104,132,610 (GRCm39) |
R226G |
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,239,867 (GRCm39) |
D485G |
possibly damaging |
Het |
|
| Other mutations in Vmn1r173 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Vmn1r173
|
APN |
7 |
23,402,132 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01637:Vmn1r173
|
APN |
7 |
23,402,373 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01878:Vmn1r173
|
APN |
7 |
23,401,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02036:Vmn1r173
|
APN |
7 |
23,402,321 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02039:Vmn1r173
|
APN |
7 |
23,402,321 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02171:Vmn1r173
|
APN |
7 |
23,402,321 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02209:Vmn1r173
|
APN |
7 |
23,402,586 (GRCm39) |
missense |
probably benign |
0.25 |
|
PIT4515001:Vmn1r173
|
UTSW |
7 |
23,401,911 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Vmn1r173
|
UTSW |
7 |
23,401,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0226:Vmn1r173
|
UTSW |
7 |
23,402,508 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0482:Vmn1r173
|
UTSW |
7 |
23,402,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0792:Vmn1r173
|
UTSW |
7 |
23,402,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1242:Vmn1r173
|
UTSW |
7 |
23,402,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Vmn1r173
|
UTSW |
7 |
23,402,533 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1867:Vmn1r173
|
UTSW |
7 |
23,402,660 (GRCm39) |
missense |
unknown |
|
|
R2325:Vmn1r173
|
UTSW |
7 |
23,402,537 (GRCm39) |
nonsense |
probably null |
|
|
R3863:Vmn1r173
|
UTSW |
7 |
23,401,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Vmn1r173
|
UTSW |
7 |
23,402,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Vmn1r173
|
UTSW |
7 |
23,402,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Vmn1r173
|
UTSW |
7 |
23,402,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Vmn1r173
|
UTSW |
7 |
23,402,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Vmn1r173
|
UTSW |
7 |
23,402,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6022:Vmn1r173
|
UTSW |
7 |
23,402,260 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6114:Vmn1r173
|
UTSW |
7 |
23,402,254 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6657:Vmn1r173
|
UTSW |
7 |
23,402,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7165:Vmn1r173
|
UTSW |
7 |
23,402,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7195:Vmn1r173
|
UTSW |
7 |
23,401,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7201:Vmn1r173
|
UTSW |
7 |
23,401,583 (GRCm39) |
start gained |
probably benign |
|
|
R7533:Vmn1r173
|
UTSW |
7 |
23,402,071 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7951:Vmn1r173
|
UTSW |
7 |
23,402,680 (GRCm39) |
missense |
unknown |
|
|
R8351:Vmn1r173
|
UTSW |
7 |
23,401,957 (GRCm39) |
nonsense |
probably null |
|
|
R8374:Vmn1r173
|
UTSW |
7 |
23,401,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8427:Vmn1r173
|
UTSW |
7 |
23,401,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8451:Vmn1r173
|
UTSW |
7 |
23,401,957 (GRCm39) |
nonsense |
probably null |
|
|
R8923:Vmn1r173
|
UTSW |
7 |
23,401,768 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9126:Vmn1r173
|
UTSW |
7 |
23,402,008 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9506:Vmn1r173
|
UTSW |
7 |
23,401,963 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9557:Vmn1r173
|
UTSW |
7 |
23,402,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Vmn1r173
|
UTSW |
7 |
23,402,012 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCCTGAGCACTTACCAGTTTATCG -3'
(R):5'- GCATACAAATGTGACCACCAGCATGAG -3'
Sequencing Primer
(F):5'- TTCCTGGCAAATGGAGTAGAATG -3'
(R):5'- TGACCACCAGCATGAGAATTG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation