Incidental Mutation 'R6504:Vmn1r214'
| ID |
523636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r214
|
| Ensembl Gene |
ENSMUSG00000061829 |
| Gene Name |
vomeronasal 1 receptor 214 |
| Synonyms |
V1rh5 |
| MMRRC Submission |
044636-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R6504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23218508-23219611 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 23219610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Leucine
at position 368
(*368L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074252]
[ENSMUST00000227236]
[ENSMUST00000227652]
|
| AlphaFold |
Q8R279 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074252
AA Change: *368L
|
| SMART Domains |
Protein: ENSMUSP00000073868
Gene: ENSMUSG00000061829
AA Change: *368L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
Pfam:TAS2R
|
42 |
346 |
7.5e-9 |
PFAM |
|
Pfam:V1R
|
75 |
337 |
5.3e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227236
AA Change: *368L
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227652
AA Change: *368L
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,569 (GRCm39) |
T31A |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,531,713 (GRCm39) |
H507Q |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 103,006,911 (GRCm39) |
D712G |
possibly damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,176,358 (GRCm39) |
D351E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,121 (GRCm39) |
T1304A |
probably benign |
Het |
| Dhx36 |
G |
T |
3: 62,396,060 (GRCm39) |
A449E |
probably benign |
Het |
| Dmkn |
A |
T |
7: 30,475,854 (GRCm39) |
K2N |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,846 (GRCm39) |
I1217T |
possibly damaging |
Het |
| Dph5 |
A |
G |
3: 115,720,452 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 83,985,907 (GRCm39) |
V4A |
probably benign |
Het |
| Elavl4 |
A |
T |
4: 110,112,579 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,856,703 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,223 (GRCm39) |
I3663T |
probably benign |
Het |
| Gm7233 |
T |
A |
14: 43,037,394 (GRCm39) |
D15E |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,232,198 (GRCm39) |
V444A |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,896,177 (GRCm39) |
I698F |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,518 (GRCm39) |
S1179P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,250,531 (GRCm39) |
L595Q |
probably damaging |
Het |
| Or10d3 |
C |
T |
9: 39,461,574 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,848 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,447,914 (GRCm39) |
I54V |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,631 (GRCm39) |
Q634R |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,364 (GRCm39) |
V414A |
unknown |
Het |
| Ranbp3l |
T |
C |
15: 8,997,946 (GRCm39) |
F13L |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,317,341 (GRCm39) |
|
probably null |
Het |
| Sh3d19 |
A |
G |
3: 85,992,643 (GRCm39) |
T224A |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,625,208 (GRCm39) |
Y217F |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,129 (GRCm39) |
H527Q |
probably benign |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,895 (GRCm39) |
I432M |
possibly damaging |
Het |
| Sulf2 |
A |
G |
2: 165,925,841 (GRCm39) |
Y439H |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,874,815 (GRCm39) |
C535* |
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,850,486 (GRCm39) |
I280V |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,444 (GRCm39) |
S4269G |
probably benign |
Het |
| Wif1 |
C |
G |
10: 120,870,996 (GRCm39) |
Q92E |
probably damaging |
Het |
|
| Other mutations in Vmn1r214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01072:Vmn1r214
|
APN |
13 |
23,219,300 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01759:Vmn1r214
|
APN |
13 |
23,218,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02000:Vmn1r214
|
APN |
13 |
23,219,270 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0115:Vmn1r214
|
UTSW |
13 |
23,219,464 (GRCm39) |
nonsense |
probably null |
|
|
R0468:Vmn1r214
|
UTSW |
13 |
23,219,423 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0481:Vmn1r214
|
UTSW |
13 |
23,219,464 (GRCm39) |
nonsense |
probably null |
|
|
R0574:Vmn1r214
|
UTSW |
13 |
23,218,663 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0686:Vmn1r214
|
UTSW |
13 |
23,218,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Vmn1r214
|
UTSW |
13 |
23,219,494 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3893:Vmn1r214
|
UTSW |
13 |
23,218,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4013:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4014:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4015:Vmn1r214
|
UTSW |
13 |
23,219,520 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4670:Vmn1r214
|
UTSW |
13 |
23,219,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5091:Vmn1r214
|
UTSW |
13 |
23,219,571 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5817:Vmn1r214
|
UTSW |
13 |
23,219,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7096:Vmn1r214
|
UTSW |
13 |
23,219,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Vmn1r214
|
UTSW |
13 |
23,218,839 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7293:Vmn1r214
|
UTSW |
13 |
23,218,839 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7759:Vmn1r214
|
UTSW |
13 |
23,218,631 (GRCm39) |
missense |
not run |
|
|
R8805:Vmn1r214
|
UTSW |
13 |
23,219,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8810:Vmn1r214
|
UTSW |
13 |
23,219,082 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9383:Vmn1r214
|
UTSW |
13 |
23,219,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9660:Vmn1r214
|
UTSW |
13 |
23,219,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9711:Vmn1r214
|
UTSW |
13 |
23,218,508 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R9728:Vmn1r214
|
UTSW |
13 |
23,219,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0002:Vmn1r214
|
UTSW |
13 |
23,218,971 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Vmn1r214
|
UTSW |
13 |
23,218,665 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCGAGAACTTTTGACCCTTGG -3'
(R):5'- GTAGTACTGCCAGTTTTACAAATCC -3'
Sequencing Primer
(F):5'- TGACCCTTGGTTATGCAACG -3'
(R):5'- TAGCTTGAATATGCCCCAGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation