Incidental Mutation 'R6918:Vmn2r7'
| ID |
539435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r7
|
| Ensembl Gene |
ENSMUSG00000116028 |
| Gene Name |
vomeronasal 2, receptor 7 |
| Synonyms |
4933425M15Rik |
| MMRRC Submission |
045005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64598081-64627023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64598760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 599
(T599I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161972]
[ENSMUST00000168072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161972
AA Change: T690I
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124192
Gene: ENSMUSG00000062200
AA Change: T690I
| 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 |
probably benign
Transcript: ENSMUST00000168072
AA Change: T599I
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000131220
Gene: ENSMUSG00000116028
AA Change: T599I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
C |
17: 24,627,632 (GRCm39) |
K1359Q |
probably damaging |
Het |
| Ace |
T |
C |
11: 105,863,769 (GRCm39) |
Y406H |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,599,643 (GRCm39) |
Y1959N |
possibly damaging |
Het |
| Chrna7 |
T |
A |
7: 62,809,299 (GRCm39) |
I76F |
probably benign |
Het |
| Cuedc1 |
C |
T |
11: 88,077,899 (GRCm39) |
T296I |
probably benign |
Het |
| Ddc |
A |
G |
11: 11,769,307 (GRCm39) |
V409A |
probably damaging |
Het |
| Dhx8 |
T |
A |
11: 101,629,247 (GRCm39) |
Y212* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,158,738 (GRCm39) |
K622* |
probably null |
Het |
| Dscaml1 |
A |
G |
9: 45,341,805 (GRCm39) |
H72R |
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,885,350 (GRCm39) |
D396G |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,892,557 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,425 (GRCm39) |
Y189H |
probably damaging |
Het |
| Kif1c |
G |
A |
11: 70,597,813 (GRCm39) |
E356K |
probably damaging |
Het |
| Kirrel2 |
A |
C |
7: 30,150,239 (GRCm39) |
C17G |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,403,584 (GRCm39) |
H259R |
possibly damaging |
Het |
| Krt1 |
A |
G |
15: 101,758,612 (GRCm39) |
V184A |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,594 (GRCm39) |
N190Y |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,319,649 (GRCm39) |
V1958G |
probably damaging |
Het |
| Ly6h |
T |
C |
15: 75,437,507 (GRCm39) |
S37G |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,002,940 (GRCm39) |
H1056Q |
possibly damaging |
Het |
| Misp3 |
T |
G |
8: 84,738,313 (GRCm39) |
M1L |
probably benign |
Het |
| Mixl1 |
T |
A |
1: 180,522,243 (GRCm39) |
I213F |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,650,023 (GRCm39) |
I268T |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,706,697 (GRCm39) |
T224I |
probably damaging |
Het |
| Or8c15 |
G |
A |
9: 38,120,948 (GRCm39) |
V198M |
possibly damaging |
Het |
| Oscp1 |
A |
C |
4: 125,970,571 (GRCm39) |
D120A |
possibly damaging |
Het |
| Parp1 |
G |
A |
1: 180,416,235 (GRCm39) |
V545I |
possibly damaging |
Het |
| Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
| Pkp2 |
A |
G |
16: 16,090,082 (GRCm39) |
Y790C |
probably damaging |
Het |
| Pomt1 |
T |
A |
2: 32,142,873 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
G |
A |
17: 53,822,487 (GRCm39) |
T193M |
probably damaging |
Het |
| Prkra |
G |
T |
2: 76,460,797 (GRCm39) |
H300Q |
probably damaging |
Het |
| Ror2 |
T |
G |
13: 53,265,487 (GRCm39) |
N523T |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,069,831 (GRCm39) |
D1355E |
unknown |
Het |
| Rsph4a |
T |
C |
10: 33,781,272 (GRCm39) |
Y41H |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,513 (GRCm39) |
M1K |
probably null |
Het |
| Tex15 |
T |
G |
8: 34,063,212 (GRCm39) |
L1155V |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,407,331 (GRCm39) |
K321E |
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,258,926 (GRCm39) |
V211A |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,832,203 (GRCm39) |
C728S |
probably damaging |
Het |
| Ube2e3 |
A |
T |
2: 78,750,383 (GRCm39) |
K203M |
probably damaging |
Het |
| Unc50 |
A |
T |
1: 37,477,783 (GRCm39) |
T222S |
probably damaging |
Het |
| Vmn1r236 |
A |
T |
17: 21,507,878 (GRCm39) |
H332L |
probably benign |
Het |
| Zfp334 |
A |
T |
2: 165,223,799 (GRCm39) |
D81E |
possibly damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,788 (GRCm39) |
I322V |
possibly 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 |
|
R1706:Vmn2r7
|
UTSW |
3 |
64,598,880 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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'- GCTGTGCATACACCAATCTCC -3'
(R):5'- TTGCTTATGAGGAGGCCCTG -3'
Sequencing Primer
(F):5'- TGTGCATACACCAATCTCCCCTAC -3'
(R):5'- AGGAGGCCCTGGGGTTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation