Incidental Mutation 'R2392:Vmn2r81'
| ID |
247818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r81
|
| Ensembl Gene |
ENSMUSG00000055515 |
| Gene Name |
vomeronasal 2, receptor 81 |
| Synonyms |
pheromone recepter, V2rf2, EC1-VR2 |
| MMRRC Submission |
040360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R2392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79083611-79130369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79110516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 543
(D543V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020547]
|
| AlphaFold |
Q80Z09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020547
AA Change: D543V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020547
Gene: ENSMUSG00000055515
AA Change: D543V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
79 |
474 |
7.7e-37 |
PFAM |
|
Pfam:NCD3G
|
517 |
570 |
8.9e-21 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
6.1e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit vomeronasal sensory neuron axons that spread out diffusely over the posterior accessory olfactory bulb and extend abnormally into the anterior olfactory bulb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,297,264 (GRCm39) |
S2409T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,958,458 (GRCm39) |
F120S |
probably damaging |
Het |
| Akr1c6 |
A |
G |
13: 4,484,477 (GRCm39) |
|
probably null |
Het |
| Bptf |
C |
A |
11: 106,963,573 (GRCm39) |
A1874S |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,856,173 (GRCm39) |
V244A |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,953,874 (GRCm39) |
L1628R |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,860,873 (GRCm39) |
|
probably null |
Het |
| Chchd7 |
T |
A |
4: 3,943,381 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crybg2 |
G |
T |
4: 133,799,925 (GRCm39) |
V362L |
probably benign |
Het |
| Ddx11 |
T |
A |
17: 66,456,968 (GRCm39) |
V791E |
probably damaging |
Het |
| Disp1 |
G |
A |
1: 182,868,731 (GRCm39) |
P1230S |
probably benign |
Het |
| Elp5 |
T |
C |
11: 69,865,928 (GRCm39) |
H116R |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,860,468 (GRCm39) |
E177G |
possibly damaging |
Het |
| F13a1 |
T |
A |
13: 37,127,971 (GRCm39) |
I336F |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fcsk |
A |
G |
8: 111,616,356 (GRCm39) |
M453T |
probably benign |
Het |
| Hacd2 |
A |
T |
16: 34,926,748 (GRCm39) |
E249V |
probably benign |
Het |
| Hnrnpf |
C |
A |
6: 117,901,829 (GRCm39) |
A371D |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,065,683 (GRCm39) |
T1703A |
probably damaging |
Het |
| Kcnj13 |
G |
A |
1: 87,314,622 (GRCm39) |
T200I |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,305,077 (GRCm39) |
T949M |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,031 (GRCm39) |
A552T |
possibly damaging |
Het |
| Krt74 |
A |
G |
15: 101,665,236 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap14 |
T |
A |
16: 88,622,597 (GRCm39) |
|
probably null |
Het |
| Lrrc45 |
A |
G |
11: 120,610,365 (GRCm39) |
N492S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,580 (GRCm39) |
N114K |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,164 (GRCm39) |
D375G |
possibly damaging |
Het |
| Mgat4a |
A |
G |
1: 37,537,785 (GRCm39) |
L44P |
probably damaging |
Het |
| Mttp |
A |
C |
3: 137,800,782 (GRCm39) |
D774E |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,116,521 (GRCm39) |
V1554A |
probably benign |
Het |
| Nes |
C |
T |
3: 87,883,250 (GRCm39) |
A503V |
probably benign |
Het |
| Nme8 |
A |
G |
13: 19,873,113 (GRCm39) |
|
probably null |
Het |
| Nr4a1 |
A |
G |
15: 101,172,075 (GRCm39) |
D583G |
possibly damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,310 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,797 (GRCm39) |
S239P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,287 (GRCm39) |
L746I |
probably damaging |
Het |
| Ppp1r7 |
A |
T |
1: 93,282,063 (GRCm39) |
I205F |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,284,679 (GRCm39) |
P181Q |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,890,206 (GRCm39) |
V694I |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,268 (GRCm39) |
S1185P |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,427,507 (GRCm39) |
|
probably null |
Het |
| Slfn2 |
A |
G |
11: 82,956,154 (GRCm39) |
N12S |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,076,248 (GRCm39) |
K38R |
possibly damaging |
Het |
| Smarca2 |
G |
T |
19: 26,618,050 (GRCm39) |
|
probably null |
Het |
| Taar4 |
A |
G |
10: 23,837,172 (GRCm39) |
T261A |
possibly damaging |
Het |
| Tbl2 |
A |
G |
5: 135,185,368 (GRCm39) |
D159G |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,770,892 (GRCm39) |
E55G |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,037,794 (GRCm39) |
|
probably null |
Het |
| Vill |
A |
T |
9: 118,896,628 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,487,130 (GRCm39) |
M511K |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,504,135 (GRCm39) |
T314A |
probably benign |
Het |
| Zbtb8b |
A |
G |
4: 129,326,982 (GRCm39) |
I61T |
probably damaging |
Het |
|
| Other mutations in Vmn2r81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Vmn2r81
|
APN |
10 |
79,083,831 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02255:Vmn2r81
|
APN |
10 |
79,083,806 (GRCm39) |
nonsense |
probably null |
|
|
IGL02901:Vmn2r81
|
APN |
10 |
79,106,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0383:Vmn2r81
|
UTSW |
10 |
79,129,281 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0555:Vmn2r81
|
UTSW |
10 |
79,129,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0715:Vmn2r81
|
UTSW |
10 |
79,104,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Vmn2r81
|
UTSW |
10 |
79,083,857 (GRCm39) |
splice site |
probably benign |
|
|
R1438:Vmn2r81
|
UTSW |
10 |
79,129,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1468:Vmn2r81
|
UTSW |
10 |
79,129,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Vmn2r81
|
UTSW |
10 |
79,129,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Vmn2r81
|
UTSW |
10 |
79,128,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1671:Vmn2r81
|
UTSW |
10 |
79,103,265 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1672:Vmn2r81
|
UTSW |
10 |
79,104,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1728:Vmn2r81
|
UTSW |
10 |
79,106,489 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1784:Vmn2r81
|
UTSW |
10 |
79,106,489 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1931:Vmn2r81
|
UTSW |
10 |
79,129,328 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1934:Vmn2r81
|
UTSW |
10 |
79,083,628 (GRCm39) |
start codon destroyed |
probably null |
0.71 |
|
R1944:Vmn2r81
|
UTSW |
10 |
79,129,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Vmn2r81
|
UTSW |
10 |
79,129,334 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2190:Vmn2r81
|
UTSW |
10 |
79,104,085 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3770:Vmn2r81
|
UTSW |
10 |
79,106,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Vmn2r81
|
UTSW |
10 |
79,104,241 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4629:Vmn2r81
|
UTSW |
10 |
79,103,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4691:Vmn2r81
|
UTSW |
10 |
79,129,211 (GRCm39) |
nonsense |
probably null |
|
|
R4829:Vmn2r81
|
UTSW |
10 |
79,083,635 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4914:Vmn2r81
|
UTSW |
10 |
79,106,357 (GRCm39) |
missense |
probably null |
1.00 |
|
R4996:Vmn2r81
|
UTSW |
10 |
79,129,247 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5242:Vmn2r81
|
UTSW |
10 |
79,129,309 (GRCm39) |
nonsense |
probably null |
|
|
R5253:Vmn2r81
|
UTSW |
10 |
79,083,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5925:Vmn2r81
|
UTSW |
10 |
79,083,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Vmn2r81
|
UTSW |
10 |
79,104,382 (GRCm39) |
missense |
probably benign |
|
|
R6270:Vmn2r81
|
UTSW |
10 |
79,129,649 (GRCm39) |
missense |
probably benign |
|
|
R6525:Vmn2r81
|
UTSW |
10 |
79,129,560 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6813:Vmn2r81
|
UTSW |
10 |
79,104,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6886:Vmn2r81
|
UTSW |
10 |
79,103,988 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7200:Vmn2r81
|
UTSW |
10 |
79,106,570 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7350:Vmn2r81
|
UTSW |
10 |
79,104,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7504:Vmn2r81
|
UTSW |
10 |
79,104,166 (GRCm39) |
missense |
probably benign |
|
|
R7832:Vmn2r81
|
UTSW |
10 |
79,129,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:Vmn2r81
|
UTSW |
10 |
79,110,538 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8362:Vmn2r81
|
UTSW |
10 |
79,103,283 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8407:Vmn2r81
|
UTSW |
10 |
79,104,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8540:Vmn2r81
|
UTSW |
10 |
79,129,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8558:Vmn2r81
|
UTSW |
10 |
79,106,467 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8700:Vmn2r81
|
UTSW |
10 |
79,129,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8779:Vmn2r81
|
UTSW |
10 |
79,103,218 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8987:Vmn2r81
|
UTSW |
10 |
79,129,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Vmn2r81
|
UTSW |
10 |
79,104,104 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9055:Vmn2r81
|
UTSW |
10 |
79,110,441 (GRCm39) |
missense |
probably benign |
|
|
R9145:Vmn2r81
|
UTSW |
10 |
79,104,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9151:Vmn2r81
|
UTSW |
10 |
79,103,905 (GRCm39) |
missense |
|
|
|
R9253:Vmn2r81
|
UTSW |
10 |
79,129,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Vmn2r81
|
UTSW |
10 |
79,103,166 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9370:Vmn2r81
|
UTSW |
10 |
79,104,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Vmn2r81
|
UTSW |
10 |
79,129,205 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0067:Vmn2r81
|
UTSW |
10 |
79,128,877 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTATTGTTGGAAACATGTAGGC -3'
(R):5'- GGAAGTGAATTCTTGATGGCAC -3'
Sequencing Primer
(F):5'- GTCGTTGCTAACCAAAGGTC -3'
(R):5'- GCCTACAATGACTTCAAAAGGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation