Incidental Mutation 'R1706:Vmn2r7'
| ID |
190056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r7
|
| Ensembl Gene |
ENSMUSG00000116028 |
| Gene Name |
vomeronasal 2, receptor 7 |
| Synonyms |
4933425M15Rik |
| MMRRC Submission |
039739-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R1706 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64598081-64627023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64598880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 559
(H559L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161972]
[ENSMUST00000168072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161972
AA Change: H650L
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124192
Gene: ENSMUSG00000062200
AA Change: H650L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
90 |
507 |
3.8e-77 |
PFAM |
|
Pfam:NCD3G
|
549 |
602 |
3.4e-17 |
PFAM |
|
Pfam:7tm_3
|
635 |
869 |
1.1e-47 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168072
AA Change: H559L
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131220
Gene: ENSMUSG00000116028
AA Change: H559L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
416 |
5.1e-72 |
PFAM |
|
Pfam:Peripla_BP_6
|
63 |
245 |
6.1e-10 |
PFAM |
|
Pfam:NCD3G
|
458 |
511 |
1.8e-17 |
PFAM |
|
Pfam:7tm_3
|
542 |
779 |
4.3e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177146
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,624,059 (GRCm39) |
|
probably benign |
Het |
| 4931406C07Rik |
G |
A |
9: 15,209,153 (GRCm39) |
T47I |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,868,865 (GRCm39) |
N558I |
probably damaging |
Het |
| Ago3 |
G |
A |
4: 126,264,085 (GRCm39) |
P374S |
probably damaging |
Het |
| Ak8 |
T |
C |
2: 28,650,007 (GRCm39) |
C345R |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,868,922 (GRCm39) |
E84G |
possibly damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,181 (GRCm39) |
F89L |
probably damaging |
Het |
| Cfap206 |
G |
A |
4: 34,688,875 (GRCm39) |
P593L |
probably damaging |
Het |
| Clcn6 |
G |
A |
4: 148,102,025 (GRCm39) |
T353I |
probably benign |
Het |
| Cstl1 |
G |
A |
2: 148,593,079 (GRCm39) |
|
probably null |
Het |
| Cyp2d10 |
A |
C |
15: 82,289,783 (GRCm39) |
S140A |
probably damaging |
Het |
| D130052B06Rik |
G |
A |
11: 33,566,230 (GRCm39) |
R18H |
unknown |
Het |
| Ddi2 |
A |
G |
4: 141,411,308 (GRCm39) |
F535L |
probably benign |
Het |
| Dop1a |
C |
T |
9: 86,436,133 (GRCm39) |
T2383M |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,149,953 (GRCm39) |
T115A |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,020,272 (GRCm39) |
|
probably benign |
Het |
| Gm7052 |
A |
G |
17: 22,258,823 (GRCm39) |
|
probably benign |
Het |
| Gm9925 |
G |
A |
18: 74,198,573 (GRCm39) |
|
probably benign |
Het |
| Gnas |
T |
A |
2: 174,141,768 (GRCm39) |
S646T |
possibly damaging |
Het |
| Gpatch3 |
T |
A |
4: 133,302,484 (GRCm39) |
C138* |
probably null |
Het |
| Igsf8 |
C |
T |
1: 172,144,972 (GRCm39) |
R100C |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,135,959 (GRCm39) |
K652R |
possibly damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,074,167 (GRCm39) |
V77E |
probably damaging |
Het |
| Kif13b |
T |
A |
14: 64,998,115 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,977,164 (GRCm39) |
N214S |
probably benign |
Het |
| Luc7l3 |
T |
C |
11: 94,188,582 (GRCm39) |
|
probably benign |
Het |
| Lypd3 |
T |
C |
7: 24,339,755 (GRCm39) |
I274T |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,264,377 (GRCm39) |
|
probably null |
Het |
| Mchr1 |
A |
G |
15: 81,121,364 (GRCm39) |
Y38C |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,191,552 (GRCm39) |
L716* |
probably null |
Het |
| Mki67 |
A |
G |
7: 135,302,295 (GRCm39) |
L913P |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,013,191 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
A |
G |
7: 99,472,563 (GRCm39) |
L58P |
probably damaging |
Het |
| Or4p23 |
G |
A |
2: 88,576,482 (GRCm39) |
P250L |
probably damaging |
Het |
| Or8h9 |
A |
T |
2: 86,789,424 (GRCm39) |
I126N |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,166,164 (GRCm39) |
V363A |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,705 (GRCm39) |
D555G |
probably benign |
Het |
| Pygb |
G |
A |
2: 150,669,067 (GRCm39) |
G671D |
probably damaging |
Het |
| Rab30 |
A |
T |
7: 92,478,875 (GRCm39) |
I79L |
possibly damaging |
Het |
| Rab44 |
C |
A |
17: 29,357,080 (GRCm39) |
T70K |
probably damaging |
Het |
| Rccd1 |
C |
G |
7: 79,970,411 (GRCm39) |
G69R |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,470,125 (GRCm39) |
V329A |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Slc22a14 |
T |
C |
9: 119,010,050 (GRCm39) |
N15S |
probably benign |
Het |
| Smurf2 |
G |
A |
11: 106,715,573 (GRCm39) |
H632Y |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tgm6 |
T |
C |
2: 129,987,079 (GRCm39) |
C516R |
possibly damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,734,021 (GRCm39) |
|
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,521,160 (GRCm39) |
N174S |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,910,142 (GRCm39) |
T123K |
probably benign |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,447 (GRCm39) |
M202K |
probably damaging |
Het |
| Zfp511 |
A |
G |
7: 139,617,192 (GRCm39) |
D96G |
probably benign |
Het |
| Zfp868 |
A |
G |
8: 70,065,060 (GRCm39) |
Y92H |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,154,735 (GRCm39) |
D633E |
probably damaging |
Het |
|
| Other mutations in Vmn2r7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00961:Vmn2r7
|
APN |
3 |
64,623,234 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01762:Vmn2r7
|
APN |
3 |
64,598,856 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01903:Vmn2r7
|
APN |
3 |
64,626,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02263:Vmn2r7
|
APN |
3 |
64,598,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Vmn2r7
|
APN |
3 |
64,600,446 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02593:Vmn2r7
|
APN |
3 |
64,600,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02797:Vmn2r7
|
APN |
3 |
64,598,666 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03047:Vmn2r7
|
UTSW |
3 |
64,614,639 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
PIT4504001:Vmn2r7
|
UTSW |
3 |
64,623,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0193:Vmn2r7
|
UTSW |
3 |
64,598,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Vmn2r7
|
UTSW |
3 |
64,598,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Vmn2r7
|
UTSW |
3 |
64,623,900 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0735:Vmn2r7
|
UTSW |
3 |
64,623,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0941:Vmn2r7
|
UTSW |
3 |
64,624,000 (GRCm39) |
missense |
probably benign |
|
|
R1065:Vmn2r7
|
UTSW |
3 |
64,614,559 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1378:Vmn2r7
|
UTSW |
3 |
64,599,025 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1445:Vmn2r7
|
UTSW |
3 |
64,632,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1506:Vmn2r7
|
UTSW |
3 |
64,614,500 (GRCm39) |
missense |
probably benign |
|
|
R1509:Vmn2r7
|
UTSW |
3 |
64,623,881 (GRCm39) |
nonsense |
probably null |
|
|
R1519:Vmn2r7
|
UTSW |
3 |
64,623,876 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2113:Vmn2r7
|
UTSW |
3 |
64,599,025 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3725:Vmn2r7
|
UTSW |
3 |
64,632,412 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3874:Vmn2r7
|
UTSW |
3 |
64,627,032 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3902:Vmn2r7
|
UTSW |
3 |
64,626,937 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4084:Vmn2r7
|
UTSW |
3 |
64,600,414 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4117:Vmn2r7
|
UTSW |
3 |
64,623,138 (GRCm39) |
intron |
probably benign |
|
|
R4333:Vmn2r7
|
UTSW |
3 |
64,598,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Vmn2r7
|
UTSW |
3 |
64,598,110 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4643:Vmn2r7
|
UTSW |
3 |
64,623,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Vmn2r7
|
UTSW |
3 |
64,626,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5091:Vmn2r7
|
UTSW |
3 |
64,598,205 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5109:Vmn2r7
|
UTSW |
3 |
64,598,088 (GRCm39) |
missense |
probably null |
0.84 |
|
R5372:Vmn2r7
|
UTSW |
3 |
64,623,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5415:Vmn2r7
|
UTSW |
3 |
64,623,658 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5740:Vmn2r7
|
UTSW |
3 |
64,614,654 (GRCm39) |
missense |
probably benign |
|
|
R5977:Vmn2r7
|
UTSW |
3 |
64,623,464 (GRCm39) |
nonsense |
probably null |
|
|
R6019:Vmn2r7
|
UTSW |
3 |
64,623,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Vmn2r7
|
UTSW |
3 |
64,632,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6139:Vmn2r7
|
UTSW |
3 |
64,623,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Vmn2r7
|
UTSW |
3 |
64,614,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6887:Vmn2r7
|
UTSW |
3 |
64,598,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Vmn2r7
|
UTSW |
3 |
64,598,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6949:Vmn2r7
|
UTSW |
3 |
64,598,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6980:Vmn2r7
|
UTSW |
3 |
64,623,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7196:Vmn2r7
|
UTSW |
3 |
64,623,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7286:Vmn2r7
|
UTSW |
3 |
64,598,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7455:Vmn2r7
|
UTSW |
3 |
64,624,014 (GRCm39) |
missense |
probably benign |
|
|
R7557:Vmn2r7
|
UTSW |
3 |
64,632,394 (GRCm39) |
missense |
probably benign |
|
|
R7864:Vmn2r7
|
UTSW |
3 |
64,598,947 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8046:Vmn2r7
|
UTSW |
3 |
64,614,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8068:Vmn2r7
|
UTSW |
3 |
64,623,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8252:Vmn2r7
|
UTSW |
3 |
64,600,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8814:Vmn2r7
|
UTSW |
3 |
64,623,984 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9497:Vmn2r7
|
UTSW |
3 |
64,614,474 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9722:Vmn2r7
|
UTSW |
3 |
64,598,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCTCCAACACCAAGTAAGCTG -3'
(R):5'- TGTCACATCATCTGCACCAAGGC -3'
Sequencing Primer
(F):5'- GCCGAGTTTTAGATATGGACATCC -3'
(R):5'- ataGATTTCCAGTAAATCCTGTTGAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation