Incidental Mutation 'R4548:Vmn2r92'
| ID |
333883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r92
|
| Ensembl Gene |
ENSMUSG00000091350 |
| Gene Name |
vomeronasal 2, receptor 92 |
| Synonyms |
EG627111 |
| MMRRC Submission |
041594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18372192-18405440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18391578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 527
(M527L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169686]
|
| AlphaFold |
L7N2A4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169686
AA Change: M527L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128685
Gene: ENSMUSG00000091350
AA Change: M527L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
83 |
463 |
4.7e-38 |
PFAM |
|
Pfam:NCD3G
|
510 |
564 |
2.5e-19 |
PFAM |
|
Pfam:7tm_3
|
597 |
832 |
1.1e-52 |
PFAM |
|
low complexity region
|
843 |
855 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,553,245 (GRCm39) |
F155L |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,496,540 (GRCm39) |
I545T |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,486,176 (GRCm39) |
N299K |
probably benign |
Het |
| Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
| Anln |
T |
C |
9: 22,274,184 (GRCm39) |
D551G |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,580,336 (GRCm39) |
Q204R |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l11 |
A |
G |
2: 127,971,566 (GRCm39) |
E75G |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,372,675 (GRCm39) |
I457V |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cntln |
C |
A |
4: 85,015,079 (GRCm39) |
H1123Q |
probably benign |
Het |
| Cops3 |
C |
T |
11: 59,718,671 (GRCm39) |
|
probably null |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,058,074 (GRCm39) |
N281S |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,857,754 (GRCm39) |
D2016G |
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,676 (GRCm39) |
D1050G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,875 (GRCm39) |
F48S |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,457,528 (GRCm39) |
E289G |
possibly damaging |
Het |
| Nemp1 |
A |
G |
10: 127,532,213 (GRCm39) |
E373G |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,834 (GRCm39) |
I175N |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,809,014 (GRCm39) |
N42S |
probably damaging |
Het |
| Polr1c |
A |
T |
17: 46,558,735 (GRCm39) |
|
probably null |
Het |
| Rev1 |
A |
G |
1: 38,098,275 (GRCm39) |
M756T |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,387 (GRCm39) |
D482G |
probably damaging |
Het |
| Sfrp4 |
A |
G |
13: 19,807,936 (GRCm39) |
M112V |
possibly damaging |
Het |
| Slc7a4 |
T |
C |
16: 17,393,209 (GRCm39) |
T197A |
probably benign |
Het |
| Snx27 |
C |
T |
3: 94,433,746 (GRCm39) |
|
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,341,010 (GRCm39) |
A721T |
probably benign |
Het |
| Trappc3 |
A |
G |
4: 126,166,544 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,419,090 (GRCm39) |
S1362N |
possibly damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,156,134 (GRCm39) |
K409* |
probably null |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
Het |
|
| Other mutations in Vmn2r92 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01591:Vmn2r92
|
APN |
17 |
18,405,423 (GRCm39) |
missense |
unknown |
|
|
IGL01758:Vmn2r92
|
APN |
17 |
18,372,275 (GRCm39) |
nonsense |
probably null |
|
|
IGL02614:Vmn2r92
|
APN |
17 |
18,387,503 (GRCm39) |
splice site |
probably benign |
|
|
IGL03095:Vmn2r92
|
APN |
17 |
18,386,972 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03403:Vmn2r92
|
APN |
17 |
18,387,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0133:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0225:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0227:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0267:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Vmn2r92
|
UTSW |
17 |
18,389,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0426:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Vmn2r92
|
UTSW |
17 |
18,388,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1253:Vmn2r92
|
UTSW |
17 |
18,387,028 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1497:Vmn2r92
|
UTSW |
17 |
18,387,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1571:Vmn2r92
|
UTSW |
17 |
18,372,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1656:Vmn2r92
|
UTSW |
17 |
18,372,198 (GRCm39) |
missense |
probably benign |
|
|
R1816:Vmn2r92
|
UTSW |
17 |
18,386,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2229:Vmn2r92
|
UTSW |
17 |
18,387,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2909:Vmn2r92
|
UTSW |
17 |
18,405,377 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3694:Vmn2r92
|
UTSW |
17 |
18,372,205 (GRCm39) |
nonsense |
probably null |
|
|
R4207:Vmn2r92
|
UTSW |
17 |
18,404,523 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4612:Vmn2r92
|
UTSW |
17 |
18,387,132 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4742:Vmn2r92
|
UTSW |
17 |
18,387,119 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4824:Vmn2r92
|
UTSW |
17 |
18,372,183 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4865:Vmn2r92
|
UTSW |
17 |
18,387,634 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4900:Vmn2r92
|
UTSW |
17 |
18,404,605 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5084:Vmn2r92
|
UTSW |
17 |
18,405,439 (GRCm39) |
makesense |
probably null |
|
|
R5140:Vmn2r92
|
UTSW |
17 |
18,372,312 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5995:Vmn2r92
|
UTSW |
17 |
18,389,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6045:Vmn2r92
|
UTSW |
17 |
18,388,305 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6269:Vmn2r92
|
UTSW |
17 |
18,387,036 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6877:Vmn2r92
|
UTSW |
17 |
18,389,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Vmn2r92
|
UTSW |
17 |
18,387,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7260:Vmn2r92
|
UTSW |
17 |
18,387,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Vmn2r92
|
UTSW |
17 |
18,387,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7514:Vmn2r92
|
UTSW |
17 |
18,391,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Vmn2r92
|
UTSW |
17 |
18,387,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7584:Vmn2r92
|
UTSW |
17 |
18,387,028 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7912:Vmn2r92
|
UTSW |
17 |
18,404,970 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7941:Vmn2r92
|
UTSW |
17 |
18,405,099 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8178:Vmn2r92
|
UTSW |
17 |
18,386,988 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8238:Vmn2r92
|
UTSW |
17 |
18,405,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8239:Vmn2r92
|
UTSW |
17 |
18,405,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8252:Vmn2r92
|
UTSW |
17 |
18,387,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Vmn2r92
|
UTSW |
17 |
18,386,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8355:Vmn2r92
|
UTSW |
17 |
18,405,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9399:Vmn2r92
|
UTSW |
17 |
18,389,137 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9639:Vmn2r92
|
UTSW |
17 |
18,372,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9747:Vmn2r92
|
UTSW |
17 |
18,405,201 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9773:Vmn2r92
|
UTSW |
17 |
18,386,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Vmn2r92
|
UTSW |
17 |
18,405,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r92
|
UTSW |
17 |
18,404,795 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTAGGTGTTAACAACAATACTTTGC -3'
(R):5'- AGCTATTTCAAGGGGATGATGATG -3'
Sequencing Primer
(F):5'- ACAACAATACTTTGCTTTCCAGTG -3'
(R):5'- TTTCAAGGGGATGATGATGAATATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation