Incidental Mutation 'R8046:Vmn2r7'
| ID |
618737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r7
|
| Ensembl Gene |
ENSMUSG00000116028 |
| Gene Name |
vomeronasal 2, receptor 7 |
| Synonyms |
4933425M15Rik |
| MMRRC Submission |
067483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64598081-64627023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64614479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 445
(N445S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161972]
[ENSMUST00000168072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161972
AA Change: N536S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124192
Gene: ENSMUSG00000062200
AA Change: N536S
| 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: N445S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131220
Gene: ENSMUSG00000116028
AA Change: N445S
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
T |
5: 77,044,325 (GRCm39) |
D188E |
probably benign |
Het |
| Ahcyl2 |
T |
C |
6: 29,878,619 (GRCm39) |
L273P |
probably damaging |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,359,752 (GRCm39) |
T227A |
probably benign |
Het |
| Ankle1 |
C |
T |
8: 71,860,665 (GRCm39) |
T374M |
probably damaging |
Het |
| Arhgap18 |
T |
C |
10: 26,763,853 (GRCm39) |
V481A |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 66,184,587 (GRCm39) |
L170* |
probably null |
Het |
| Bms1 |
T |
C |
6: 118,385,105 (GRCm39) |
T368A |
probably benign |
Het |
| Boll |
A |
G |
1: 55,385,562 (GRCm39) |
I121T |
probably damaging |
Het |
| Brca1 |
A |
C |
11: 101,416,296 (GRCm39) |
C613G |
probably benign |
Het |
| Cdk14 |
T |
A |
5: 5,299,159 (GRCm39) |
I65F |
possibly damaging |
Het |
| Chn1 |
T |
C |
2: 73,448,363 (GRCm39) |
D335G |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,613,508 (GRCm39) |
|
probably null |
Het |
| Cplane2 |
A |
C |
4: 140,947,348 (GRCm39) |
Q243P |
probably damaging |
Het |
| Crtac1 |
T |
C |
19: 42,297,492 (GRCm39) |
|
probably benign |
Het |
| Dhx40 |
A |
T |
11: 86,675,766 (GRCm39) |
C507* |
probably null |
Het |
| Dok2 |
A |
G |
14: 71,015,482 (GRCm39) |
D403G |
probably damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,335 (GRCm39) |
D98G |
probably benign |
Het |
| Eif2b5 |
A |
G |
16: 20,325,154 (GRCm39) |
T556A |
possibly damaging |
Het |
| Eml6 |
A |
T |
11: 29,708,981 (GRCm39) |
V1480E |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Glra1 |
A |
G |
11: 55,427,225 (GRCm39) |
S120P |
probably damaging |
Het |
| Habp4 |
T |
C |
13: 64,322,656 (GRCm39) |
S242P |
probably benign |
Het |
| Igkv12-46 |
A |
G |
6: 69,741,570 (GRCm39) |
I95T |
probably damaging |
Het |
| Itch |
G |
T |
2: 155,052,422 (GRCm39) |
G674V |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,327,957 (GRCm39) |
L92P |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 188,990,933 (GRCm39) |
|
probably null |
Het |
| Krt75 |
T |
C |
15: 101,481,199 (GRCm39) |
T192A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,159,199 (GRCm39) |
K1694N |
|
Het |
| Lrrc14 |
A |
G |
15: 76,598,731 (GRCm39) |
K456E |
possibly damaging |
Het |
| Map1lc3a |
G |
T |
2: 155,119,129 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,358,741 (GRCm39) |
M832L |
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,703,798 (GRCm39) |
T263A |
probably benign |
Het |
| Nnt |
A |
T |
13: 119,511,286 (GRCm39) |
M330K |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,308,683 (GRCm39) |
N1711D |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,135 (GRCm39) |
N285D |
possibly damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
| Or51ab3 |
T |
A |
7: 103,201,584 (GRCm39) |
S197R |
possibly damaging |
Het |
| Or8b8 |
A |
T |
9: 37,808,685 (GRCm39) |
|
probably benign |
Het |
| Pag1 |
A |
G |
3: 9,764,482 (GRCm39) |
Y224H |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,958,587 (GRCm39) |
C322R |
possibly damaging |
Het |
| Pde8a |
A |
T |
7: 80,967,118 (GRCm39) |
T420S |
probably benign |
Het |
| Per2 |
A |
C |
1: 91,363,425 (GRCm39) |
L365R |
possibly damaging |
Het |
| Pml |
A |
G |
9: 58,154,256 (GRCm39) |
|
probably null |
Het |
| Ppp1r1a |
T |
A |
15: 103,446,305 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ppp3r2 |
G |
T |
4: 49,681,913 (GRCm39) |
C12* |
probably null |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Scyl1 |
C |
T |
19: 5,810,620 (GRCm39) |
R531Q |
possibly damaging |
Het |
| Skp2 |
C |
A |
15: 9,139,687 (GRCm39) |
V38F |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,296,974 (GRCm39) |
C42R |
probably damaging |
Het |
| Tekt5 |
A |
G |
16: 10,213,277 (GRCm39) |
F3L |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,147,513 (GRCm39) |
K32R |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,676,132 (GRCm39) |
R350W |
probably damaging |
Het |
| Tph2 |
A |
T |
10: 115,015,499 (GRCm39) |
I121N |
possibly damaging |
Het |
| Trim37 |
A |
G |
11: 87,037,794 (GRCm39) |
D176G |
possibly damaging |
Het |
| Trpc4 |
A |
T |
3: 54,102,335 (GRCm39) |
I78F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,609,829 (GRCm39) |
K17526E |
probably damaging |
Het |
| Tuba8 |
A |
C |
6: 121,199,832 (GRCm39) |
Y172S |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Urb2 |
A |
T |
8: 124,754,771 (GRCm39) |
R159S |
possibly damaging |
Het |
| Usp25 |
T |
A |
16: 76,906,063 (GRCm39) |
C840S |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,692,964 (GRCm39) |
K304* |
probably null |
Het |
| Vmn1r37 |
C |
A |
6: 66,708,656 (GRCm39) |
T94N |
probably damaging |
Het |
| Wnk4 |
G |
A |
11: 101,164,918 (GRCm39) |
G749D |
probably benign |
Het |
| Wscd2 |
G |
A |
5: 113,689,176 (GRCm39) |
V61I |
probably benign |
Het |
| Zfp85 |
T |
A |
13: 67,897,098 (GRCm39) |
R325* |
probably null |
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 |
|
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 |
|
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'- TACTGTGTTCCAATGAAACATTCTC -3'
(R):5'- AAATTCATTACCCATGATGGAAGG -3'
Sequencing Primer
(F):5'- AACAACAATACAAAAAGACCATATGC -3'
(R):5'- CATTACCCATGATGGAAGGAAAATAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation