Incidental Mutation 'R2329:Vmn1r184'
| ID |
245796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r184
|
| Ensembl Gene |
ENSMUSG00000046130 |
| Gene Name |
vomeronasal 1 receptor, 184 |
| Synonyms |
|
| MMRRC Submission |
040320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R2329 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25966256-25967200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25966387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 44
(L44F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057123]
[ENSMUST00000227230]
[ENSMUST00000227232]
[ENSMUST00000227534]
[ENSMUST00000227790]
[ENSMUST00000228145]
[ENSMUST00000228369]
|
| AlphaFold |
E9Q2N4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057123
AA Change: L44F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061885
Gene: ENSMUSG00000046130
AA Change: L44F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
308 |
1.7e-7 |
PFAM |
|
Pfam:V1R
|
35 |
297 |
7.5e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227230
AA Change: L44F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227232
AA Change: L44F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227534
AA Change: L44F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227790
AA Change: L44F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228145
AA Change: L44F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228369
AA Change: L44F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
C |
13: 77,451,444 (GRCm39) |
S843R |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,813,781 (GRCm39) |
R795S |
probably damaging |
Het |
| Adora2a |
T |
A |
10: 75,162,017 (GRCm39) |
V52E |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,323,520 (GRCm39) |
L594Q |
probably benign |
Het |
| Batf3 |
A |
T |
1: 190,840,646 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,513,610 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,862 (GRCm39) |
T123A |
possibly damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,834 (GRCm39) |
T1190A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,459,044 (GRCm39) |
Q298K |
possibly damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
C |
T |
15: 83,834,249 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,710 (GRCm39) |
M610I |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,356,933 (GRCm39) |
D38G |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,041,110 (GRCm39) |
T128A |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,301 (GRCm39) |
V340M |
probably damaging |
Het |
| Gm19684 |
T |
A |
17: 36,439,345 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
T |
A |
6: 42,223,848 (GRCm39) |
D86E |
possibly damaging |
Het |
| Hus1 |
A |
G |
11: 8,957,492 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
T |
C |
6: 95,103,761 (GRCm39) |
I547T |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,022,845 (GRCm39) |
H373L |
possibly damaging |
Het |
| Nostrin |
A |
T |
2: 68,991,438 (GRCm39) |
T144S |
probably damaging |
Het |
| Prl8a6 |
T |
C |
13: 27,621,050 (GRCm39) |
H60R |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,038,983 (GRCm39) |
I329T |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,492 (GRCm39) |
Y107* |
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,119,422 (GRCm39) |
T483A |
possibly damaging |
Het |
| Slc35c1 |
A |
T |
2: 92,289,040 (GRCm39) |
Y155* |
probably null |
Het |
| Susd1 |
T |
C |
4: 59,379,715 (GRCm39) |
D304G |
possibly damaging |
Het |
| Taf5 |
C |
T |
19: 47,063,563 (GRCm39) |
S371L |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,069 (GRCm39) |
T2362A |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,599,786 (GRCm39) |
P19102S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,608,412 (GRCm39) |
V17837A |
probably damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
C |
T |
9: 121,101,953 (GRCm39) |
E42K |
probably damaging |
Het |
| Zfp932 |
A |
T |
5: 110,157,406 (GRCm39) |
H368L |
probably benign |
Het |
|
| Other mutations in Vmn1r184 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Vmn1r184
|
APN |
7 |
25,966,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01411:Vmn1r184
|
APN |
7 |
25,966,320 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02961:Vmn1r184
|
APN |
7 |
25,967,075 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03271:Vmn1r184
|
APN |
7 |
25,967,034 (GRCm39) |
missense |
probably benign |
|
|
R0302:Vmn1r184
|
UTSW |
7 |
25,966,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Vmn1r184
|
UTSW |
7 |
25,967,076 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0591:Vmn1r184
|
UTSW |
7 |
25,966,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0620:Vmn1r184
|
UTSW |
7 |
25,966,602 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1644:Vmn1r184
|
UTSW |
7 |
25,966,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2304:Vmn1r184
|
UTSW |
7 |
25,966,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Vmn1r184
|
UTSW |
7 |
25,967,008 (GRCm39) |
nonsense |
probably null |
|
|
R5020:Vmn1r184
|
UTSW |
7 |
25,966,955 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5030:Vmn1r184
|
UTSW |
7 |
25,966,881 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5049:Vmn1r184
|
UTSW |
7 |
25,966,793 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5076:Vmn1r184
|
UTSW |
7 |
25,966,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Vmn1r184
|
UTSW |
7 |
25,967,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5554:Vmn1r184
|
UTSW |
7 |
25,966,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Vmn1r184
|
UTSW |
7 |
25,966,817 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6868:Vmn1r184
|
UTSW |
7 |
25,966,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6937:Vmn1r184
|
UTSW |
7 |
25,966,750 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6943:Vmn1r184
|
UTSW |
7 |
25,966,563 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7190:Vmn1r184
|
UTSW |
7 |
25,967,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Vmn1r184
|
UTSW |
7 |
25,966,602 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7472:Vmn1r184
|
UTSW |
7 |
25,966,824 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8258:Vmn1r184
|
UTSW |
7 |
25,966,686 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8259:Vmn1r184
|
UTSW |
7 |
25,966,686 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8911:Vmn1r184
|
UTSW |
7 |
25,966,310 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9008:Vmn1r184
|
UTSW |
7 |
25,967,177 (GRCm39) |
missense |
probably benign |
|
|
R9159:Vmn1r184
|
UTSW |
7 |
25,966,545 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9216:Vmn1r184
|
UTSW |
7 |
25,966,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9548:Vmn1r184
|
UTSW |
7 |
25,966,734 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9588:Vmn1r184
|
UTSW |
7 |
25,966,347 (GRCm39) |
missense |
probably null |
0.78 |
|
Z1177:Vmn1r184
|
UTSW |
7 |
25,966,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAACTCGAGAAATGGTGGGG -3'
(R):5'- CAACAGGATTTTCTGGGGCTG -3'
Sequencing Primer
(F):5'- CTCGAGAAATGGTGGGGATATATTC -3'
(R):5'- GATGGTCATGGCCTGAAAAACACTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation