Incidental Mutation 'R6139:Vmn2r7'
| ID |
488474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r7
|
| Ensembl Gene |
ENSMUSG00000116028 |
| Gene Name |
vomeronasal 2, receptor 7 |
| Synonyms |
4933425M15Rik |
| MMRRC Submission |
044286-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6139 (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 64623339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 327
(T327I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161972]
[ENSMUST00000168072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050123
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161972
AA Change: T418I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124192
Gene: ENSMUSG00000062200
AA Change: T418I
| 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 damaging
Transcript: ENSMUST00000168072
AA Change: T327I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131220
Gene: ENSMUSG00000116028
AA Change: T327I
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,150 (GRCm39) |
T250A |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,350,713 (GRCm39) |
I1074T |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,842 (GRCm39) |
D747G |
probably damaging |
Het |
| Antxr2 |
A |
C |
5: 98,125,565 (GRCm39) |
|
probably null |
Het |
| Arhgap35 |
T |
C |
7: 16,297,392 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap1 |
T |
A |
15: 64,038,388 (GRCm39) |
I223F |
possibly damaging |
Het |
| C2cd5 |
A |
C |
6: 142,980,784 (GRCm39) |
D669E |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,036,154 (GRCm39) |
T1472M |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,177 (GRCm39) |
L154P |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,025 (GRCm39) |
E293G |
probably benign |
Het |
| Cma1 |
T |
A |
14: 56,180,157 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
C |
T |
11: 106,130,843 (GRCm39) |
A439V |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,621,143 (GRCm39) |
L625Q |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,007,984 (GRCm39) |
D2141G |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,376,382 (GRCm39) |
I1389T |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,010,100 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,821,388 (GRCm39) |
D5707G |
possibly damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,083,360 (GRCm39) |
V219I |
probably benign |
Het |
| Gk2 |
A |
G |
5: 97,604,139 (GRCm39) |
V233A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,622,075 (GRCm39) |
|
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,538 (GRCm39) |
V649D |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,321,989 (GRCm39) |
H977Y |
possibly damaging |
Het |
| Ktn1 |
T |
A |
14: 47,963,672 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
T |
A |
19: 7,581,742 (GRCm39) |
T29S |
probably benign |
Het |
| Me3 |
G |
T |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
| Mgst3 |
T |
G |
1: 167,205,874 (GRCm39) |
K35T |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,767,227 (GRCm39) |
R354G |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,033,738 (GRCm39) |
E1059G |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,998,701 (GRCm39) |
H408L |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,453 (GRCm39) |
T81S |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,690 (GRCm39) |
F178I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,242 (GRCm39) |
L1275Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,856,825 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pop1 |
T |
A |
15: 34,529,204 (GRCm39) |
C745S |
probably benign |
Het |
| Ptpn14 |
T |
G |
1: 189,583,362 (GRCm39) |
S736R |
probably benign |
Het |
| Rdh9 |
A |
T |
10: 127,612,606 (GRCm39) |
T85S |
possibly damaging |
Het |
| Rnf223 |
T |
C |
4: 156,217,260 (GRCm39) |
C212R |
probably damaging |
Het |
| Rnf39 |
A |
G |
17: 37,254,230 (GRCm39) |
E84G |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,375 (GRCm39) |
V584D |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,231 (GRCm39) |
S728T |
probably damaging |
Het |
| Slc16a12 |
T |
A |
19: 34,648,295 (GRCm39) |
|
probably null |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,694,353 (GRCm39) |
L48P |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,572 (GRCm39) |
N951D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,030 (GRCm39) |
D118E |
probably benign |
Het |
| Wdr70 |
T |
C |
15: 8,108,735 (GRCm39) |
D137G |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,843,360 (GRCm39) |
M14K |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,447,613 (GRCm39) |
E283V |
probably benign |
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 |
|
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'- CAGTTTCAGAGGTATGAACATGGG -3'
(R):5'- GTCTTGACCATTGAATTCTGGC -3'
Sequencing Primer
(F):5'- TGAACATGGGTGTAAACACTTG -3'
(R):5'- GGCAAACTGCTTTTAACTGTACCTGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation