Incidental Mutation 'PIT4504001:Vmn2r7'
ID |
555995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r7
|
Ensembl Gene |
ENSMUSG00000116028 |
Gene Name |
vomeronasal 2, receptor 7 |
Synonyms |
4933425M15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
PIT4504001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
64598081-64627023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64623397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 308
(Y308N)
|
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: Y399N
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000124192 Gene: ENSMUSG00000062200 AA Change: Y399N
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: Y308N
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000131220 Gene: ENSMUSG00000116028 AA Change: Y308N
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 |
|
Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
A |
2: 103,547,537 (GRCm39) |
C970* |
probably null |
Het |
Adgrv1 |
G |
A |
13: 81,707,471 (GRCm39) |
P1312S |
probably damaging |
Het |
Arid5a |
T |
C |
1: 36,356,706 (GRCm39) |
I116T |
probably damaging |
Het |
Bank1 |
C |
A |
3: 135,806,180 (GRCm39) |
D485Y |
probably damaging |
Het |
Cbln3 |
C |
T |
14: 56,120,956 (GRCm39) |
V122M |
probably damaging |
Het |
Cox10 |
C |
T |
11: 63,855,042 (GRCm39) |
C413Y |
possibly damaging |
Het |
Ctsll3 |
T |
A |
13: 60,948,823 (GRCm39) |
D44V |
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,911,529 (GRCm39) |
N483K |
possibly damaging |
Het |
Dcaf4 |
G |
A |
12: 83,580,785 (GRCm39) |
|
probably null |
Het |
Ddx60 |
A |
G |
8: 62,411,147 (GRCm39) |
T470A |
probably benign |
Het |
Dennd1b |
T |
C |
1: 138,967,742 (GRCm39) |
V44A |
probably benign |
Het |
Dusp16 |
C |
A |
6: 134,716,846 (GRCm39) |
V154F |
possibly damaging |
Het |
Ect2 |
G |
A |
3: 27,181,097 (GRCm39) |
R586* |
probably null |
Het |
Ermard |
T |
A |
17: 15,279,084 (GRCm39) |
C460* |
probably null |
Het |
Fat2 |
C |
T |
11: 55,146,936 (GRCm39) |
G4020D |
possibly damaging |
Het |
Flacc1 |
T |
A |
1: 58,698,258 (GRCm39) |
I348F |
probably benign |
Het |
Galnt16 |
G |
T |
12: 80,639,191 (GRCm39) |
E402* |
probably null |
Het |
Gm5414 |
T |
G |
15: 101,534,258 (GRCm39) |
D282A |
probably damaging |
Het |
Gm6741 |
C |
T |
17: 91,544,344 (GRCm39) |
Q36* |
probably null |
Het |
Gm7356 |
A |
T |
17: 14,221,720 (GRCm39) |
L103Q |
probably damaging |
Het |
Hcn1 |
A |
G |
13: 118,112,411 (GRCm39) |
T792A |
possibly damaging |
Het |
Hemgn |
T |
C |
4: 46,395,863 (GRCm39) |
N458D |
probably benign |
Het |
Hesx1 |
C |
A |
14: 26,723,838 (GRCm39) |
D140E |
probably benign |
Het |
Hjv |
A |
T |
3: 96,435,813 (GRCm39) |
D357V |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
Il33 |
A |
T |
19: 29,930,139 (GRCm39) |
H78L |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,768,564 (GRCm39) |
D691V |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,131,369 (GRCm39) |
N1945I |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,305,747 (GRCm39) |
D2938G |
probably damaging |
Het |
Lrrc8c |
A |
T |
5: 105,756,403 (GRCm39) |
Y726F |
probably benign |
Het |
Magi3 |
G |
T |
3: 103,922,842 (GRCm39) |
Q1292K |
probably benign |
Het |
Mllt3 |
A |
C |
4: 87,692,324 (GRCm39) |
F546L |
probably damaging |
Het |
Mrpl14 |
A |
G |
17: 46,009,147 (GRCm39) |
K82R |
probably benign |
Het |
Noxred1 |
A |
G |
12: 87,271,653 (GRCm39) |
V172A |
possibly damaging |
Het |
Obscn |
A |
T |
11: 59,023,948 (GRCm39) |
I574N |
probably damaging |
Het |
Or2n1b |
A |
G |
17: 38,460,060 (GRCm39) |
T194A |
probably benign |
Het |
Or5k8 |
T |
A |
16: 58,644,671 (GRCm39) |
T134S |
probably benign |
Het |
Osbpl11 |
T |
A |
16: 33,054,864 (GRCm39) |
V649D |
probably benign |
Het |
Pdlim2 |
G |
T |
14: 70,403,579 (GRCm39) |
P278T |
probably benign |
Het |
Pm20d2 |
A |
C |
4: 33,183,152 (GRCm39) |
L223V |
probably damaging |
Het |
Pmpcb |
G |
T |
5: 21,948,388 (GRCm39) |
R223L |
probably damaging |
Het |
Pole2 |
A |
T |
12: 69,256,759 (GRCm39) |
Y255* |
probably null |
Het |
Rims1 |
T |
A |
1: 22,467,684 (GRCm39) |
I317L |
|
Het |
Scnn1g |
C |
A |
7: 121,341,554 (GRCm39) |
H239N |
probably benign |
Het |
Spag17 |
A |
G |
3: 100,010,426 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 48,746,692 (GRCm39) |
F1038I |
probably damaging |
Het |
Tshz2 |
T |
C |
2: 169,727,971 (GRCm39) |
F856L |
probably damaging |
Het |
Ubtf |
A |
G |
11: 102,197,508 (GRCm39) |
S715P |
unknown |
Het |
Usp13 |
A |
C |
3: 32,959,579 (GRCm39) |
S557R |
probably damaging |
Het |
Usp19 |
T |
A |
9: 108,370,169 (GRCm39) |
S43T |
probably benign |
Het |
Zfp455 |
A |
G |
13: 67,346,685 (GRCm39) |
D32G |
probably damaging |
Het |
Zfp512 |
T |
A |
5: 31,634,225 (GRCm39) |
|
probably null |
Het |
Zfr |
A |
G |
15: 12,166,244 (GRCm39) |
E838G |
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 |
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 |
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'- GCAGTTTCAGAGGTATGAACATGG -3'
(R):5'- TACCAAGAAGTGTTATACCAGGAC -3'
Sequencing Primer
(F):5'- TGAACATGGGTGTAAACACTTG -3'
(R):5'- ACCAGGACTAAAAGAATTCCTTTATG -3'
|
Posted On |
2019-06-07 |