Incidental Mutation 'R8374:Vmn1r173'
| ID |
646573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r173
|
| Ensembl Gene |
ENSMUSG00000115021 |
| Gene Name |
vomeronasal 1 receptor 173 |
| Synonyms |
Gm5892 |
| MMRRC Submission |
067742-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.621)
|
| Stock # |
R8374 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23401767-23402708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23401920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 52
(H52Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174055]
[ENSMUST00000226233]
[ENSMUST00000227987]
|
| AlphaFold |
E9Q8V7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174055
AA Change: H52Y
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134645
Gene: ENSMUSG00000115021
AA Change: H52Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
43 |
301 |
5.3e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226233
AA Change: H52Y
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227987
AA Change: H52Y
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
C |
T |
9: 30,814,002 (GRCm39) |
G721E |
probably benign |
Het |
| Aip |
A |
T |
19: 4,165,456 (GRCm39) |
M170K |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,585,973 (GRCm39) |
I276T |
probably benign |
Het |
| Arid1b |
C |
T |
17: 5,392,919 (GRCm39) |
P2097S |
possibly damaging |
Het |
| Astn1 |
T |
G |
1: 158,329,803 (GRCm39) |
N219K |
probably damaging |
Het |
| Cbx2 |
G |
T |
11: 118,918,969 (GRCm39) |
R178L |
probably damaging |
Het |
| Clptm1 |
G |
A |
7: 19,372,081 (GRCm39) |
P252S |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,902,175 (GRCm39) |
S2355P |
probably damaging |
Het |
| D130043K22Rik |
C |
A |
13: 25,041,962 (GRCm39) |
T297K |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,427,205 (GRCm39) |
D760G |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,557,112 (GRCm39) |
N621S |
probably benign |
Het |
| Ear10 |
A |
T |
14: 44,160,645 (GRCm39) |
C61S |
probably damaging |
Het |
| F12 |
A |
T |
13: 55,569,144 (GRCm39) |
C238S |
probably damaging |
Het |
| Fen1 |
A |
G |
19: 10,177,824 (GRCm39) |
F207L |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,203,368 (GRCm39) |
L486P |
probably damaging |
Het |
| Gdnf |
A |
G |
15: 7,864,176 (GRCm39) |
R196G |
probably benign |
Het |
| Gldc |
A |
C |
19: 30,114,594 (GRCm39) |
F439V |
probably damaging |
Het |
| Gm3138 |
T |
C |
14: 4,251,688 (GRCm38) |
M120T |
probably damaging |
Het |
| Gpi1 |
G |
A |
7: 33,920,082 (GRCm39) |
A197V |
probably benign |
Het |
| Ighv1-4 |
T |
A |
12: 114,450,899 (GRCm39) |
I70F |
probably benign |
Het |
| Il19 |
A |
T |
1: 130,866,893 (GRCm39) |
L29Q |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,389,005 (GRCm39) |
I893F |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,025,884 (GRCm39) |
S1414P |
probably damaging |
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mosmo |
T |
A |
7: 120,329,715 (GRCm39) |
M112K |
probably benign |
Het |
| Ntmt2 |
A |
T |
1: 163,530,617 (GRCm39) |
M274K |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,706,033 (GRCm39) |
F12L |
probably damaging |
Het |
| Or2h1b |
C |
A |
17: 37,462,636 (GRCm39) |
V76F |
probably damaging |
Het |
| Or2w3b |
T |
A |
11: 58,623,724 (GRCm39) |
D89V |
probably damaging |
Het |
| Pak6 |
G |
A |
2: 118,524,477 (GRCm39) |
V497I |
probably benign |
Het |
| Ppargc1b |
G |
A |
18: 61,443,564 (GRCm39) |
S549F |
probably damaging |
Het |
| Rassf8 |
T |
A |
6: 145,760,863 (GRCm39) |
L63* |
probably null |
Het |
| Rptn |
G |
T |
3: 93,303,602 (GRCm39) |
G312* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,797,481 (GRCm39) |
I169V |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,469,227 (GRCm39) |
D162G |
probably null |
Het |
| Tatdn1 |
C |
T |
15: 58,788,000 (GRCm39) |
|
probably null |
Het |
| Tbx4 |
A |
C |
11: 85,805,102 (GRCm39) |
E397A |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,177,486 (GRCm39) |
D956G |
unknown |
Het |
| Tnr |
G |
A |
1: 159,685,953 (GRCm39) |
V395I |
probably benign |
Het |
| Ugt1a2 |
A |
T |
1: 88,129,107 (GRCm39) |
H250L |
possibly damaging |
Het |
| Vps11 |
T |
C |
9: 44,267,706 (GRCm39) |
D302G |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,836,468 (GRCm39) |
|
probably null |
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 |
|
R1390:Vmn1r173
|
UTSW |
7 |
23,402,323 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
|
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'- CAGTGGTGTCTTCTTACTCAGG -3'
(R):5'- TGCTCAGGACACAAGTAGTACAC -3'
Sequencing Primer
(F):5'- GGTGTCTTCTTACTCAGGAAAATAC -3'
(R):5'- GTAGTACACATGTTTGCACTTCGAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation