Incidental Mutation 'R6887:Vmn2r7'
| ID |
536983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r7
|
| Ensembl Gene |
ENSMUSG00000116028 |
| Gene Name |
vomeronasal 2, receptor 7 |
| Synonyms |
4933425M15Rik |
| MMRRC Submission |
044981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6887 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64598081-64627023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64598248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 770
(C770S)
|
| 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: C861S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124192
Gene: ENSMUSG00000062200
AA Change: C861S
| 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: C770S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131220
Gene: ENSMUSG00000116028
AA Change: C770S
| 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: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,742,231 (GRCm39) |
V543I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,118,960 (GRCm39) |
I1104V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,248,370 (GRCm39) |
I681F |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,820 (GRCm39) |
M2004L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,501,688 (GRCm39) |
S785P |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,532 (GRCm39) |
I242N |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,565,927 (GRCm39) |
L966P |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,895,794 (GRCm39) |
T547A |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,505,811 (GRCm38) |
F753S |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,187 (GRCm39) |
S252P |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,503,126 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
G |
T |
9: 54,912,417 (GRCm39) |
V302L |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,168,378 (GRCm39) |
T374A |
probably damaging |
Het |
| Dmtf1 |
T |
G |
5: 9,187,149 (GRCm39) |
D140A |
probably damaging |
Het |
| Exosc8 |
C |
T |
3: 54,641,120 (GRCm39) |
V39M |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,335,164 (GRCm39) |
S677A |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,828 (GRCm39) |
Y93H |
probably damaging |
Het |
| Hrc |
T |
C |
7: 44,985,088 (GRCm39) |
F80L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,025,599 (GRCm39) |
T139A |
possibly damaging |
Het |
| Kdr |
T |
G |
5: 76,129,111 (GRCm39) |
R178S |
probably benign |
Het |
| Lrrc61 |
A |
C |
6: 48,545,366 (GRCm39) |
N63T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,330,048 (GRCm39) |
A1219V |
possibly damaging |
Het |
| Neto1 |
T |
C |
18: 86,516,760 (GRCm39) |
V359A |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,281,836 (GRCm38) |
I364T |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,907,301 (GRCm39) |
|
probably benign |
Het |
| Or2y8 |
C |
A |
11: 52,036,179 (GRCm39) |
M59I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,374,651 (GRCm39) |
D1333G |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,703,830 (GRCm39) |
V134F |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,430 (GRCm39) |
Y406C |
probably damaging |
Het |
| Robo4 |
G |
C |
9: 37,313,363 (GRCm39) |
E6Q |
possibly damaging |
Het |
| Scnn1g |
C |
A |
7: 121,359,667 (GRCm39) |
S383R |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,247,659 (GRCm39) |
W13R |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,435,633 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,027,907 (GRCm39) |
Q732* |
probably null |
Het |
| Tek |
T |
A |
4: 94,693,181 (GRCm39) |
C247S |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,153,799 (GRCm39) |
D91E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,310,140 (GRCm39) |
L326P |
probably damaging |
Het |
| Wdr31 |
C |
T |
4: 62,375,802 (GRCm39) |
G58R |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,313,223 (GRCm39) |
I54T |
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 |
|
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 |
|
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'- CCAGCTTTGCATGTCACATG -3'
(R):5'- AGCCTCCAAGCCTGTTCAAG -3'
Sequencing Primer
(F):5'- GCATGTCACATGGATCTCACTG -3'
(R):5'- AAGGTTCTATAGAGTTTCTGTGCTCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation