Incidental Mutation 'R6419:Vmn2r13'
| ID |
518000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r13
|
| Ensembl Gene |
ENSMUSG00000091635 |
| Gene Name |
vomeronasal 2, receptor 13 |
| Synonyms |
Gm4867 |
| MMRRC Submission |
044561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
109303889-109339973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109323085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 68
(I68K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053253]
|
| AlphaFold |
L7N1X2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053253
AA Change: I68K
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052977
Gene: ENSMUSG00000091635
AA Change: I68K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
463 |
2.8e-29 |
PFAM |
|
Pfam:NCD3G
|
506 |
560 |
1.3e-18 |
PFAM |
|
Pfam:7tm_3
|
593 |
828 |
1.8e-54 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
C |
4: 42,812,473 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
T |
A |
19: 43,825,947 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,215,759 (GRCm39) |
T260M |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,231,556 (GRCm39) |
V878I |
possibly damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,144,953 (GRCm39) |
E34G |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,796,803 (GRCm39) |
I293N |
probably damaging |
Het |
| Atosa |
G |
A |
9: 74,916,619 (GRCm39) |
S413N |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,839 (GRCm39) |
E325V |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,348 (GRCm39) |
H1310Q |
probably benign |
Het |
| Ccdc125 |
T |
A |
13: 100,826,834 (GRCm39) |
N204K |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,002,150 (GRCm39) |
D284N |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,520,483 (GRCm39) |
L316S |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,416,008 (GRCm39) |
K247R |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,574,801 (GRCm39) |
H257R |
possibly damaging |
Het |
| Cnot8 |
T |
A |
11: 58,004,891 (GRCm39) |
Y197N |
probably damaging |
Het |
| Cog3 |
A |
T |
14: 75,962,178 (GRCm39) |
C554* |
probably null |
Het |
| Col4a4 |
A |
G |
1: 82,444,207 (GRCm39) |
|
probably null |
Het |
| Cops5 |
G |
A |
1: 10,103,532 (GRCm39) |
T158I |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,792,282 (GRCm39) |
F242S |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,627,315 (GRCm39) |
V1512A |
possibly damaging |
Het |
| Dstn |
T |
G |
2: 143,781,907 (GRCm39) |
I116S |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,398 (GRCm39) |
D326N |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,684,089 (GRCm39) |
Y52N |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,119,426 (GRCm39) |
S359P |
probably benign |
Het |
| Gbp7 |
G |
A |
3: 142,252,214 (GRCm39) |
G599E |
probably benign |
Het |
| Gcat |
T |
G |
15: 78,920,264 (GRCm39) |
I198S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,466,755 (GRCm39) |
K82R |
unknown |
Het |
| Grin2b |
A |
G |
6: 135,717,965 (GRCm39) |
F709S |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,620,201 (GRCm39) |
N348D |
probably damaging |
Het |
| Hdgfl1 |
G |
A |
13: 26,954,075 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
G |
T |
18: 61,285,296 (GRCm39) |
D564E |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,287,300 (GRCm39) |
V305A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,334,414 (GRCm39) |
S313T |
possibly damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,484 (GRCm39) |
I395K |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,708,459 (GRCm39) |
Y196* |
probably null |
Het |
| Lad1 |
T |
C |
1: 135,759,630 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,860,090 (GRCm39) |
F504L |
possibly damaging |
Het |
| Med4 |
A |
T |
14: 73,751,363 (GRCm39) |
D104V |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,301,073 (GRCm39) |
N128Y |
probably damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,068,668 (GRCm39) |
T54A |
probably benign |
Het |
| Notch2 |
G |
T |
3: 98,007,705 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
T |
3: 109,690,169 (GRCm39) |
N424K |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,009,113 (GRCm39) |
W301* |
probably null |
Het |
| Or5b116 |
T |
A |
19: 13,423,131 (GRCm39) |
S252T |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,822,766 (GRCm39) |
S113P |
possibly damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,608 (GRCm39) |
N378S |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,473,975 (GRCm39) |
S185P |
possibly damaging |
Het |
| Ptprn |
G |
A |
1: 75,240,681 (GRCm39) |
R31C |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,698,117 (GRCm39) |
V478M |
probably damaging |
Het |
| Sema6b |
A |
T |
17: 56,439,784 (GRCm39) |
L19* |
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,894,881 (GRCm39) |
|
probably null |
Het |
| Spen |
A |
T |
4: 141,203,621 (GRCm39) |
S1669T |
unknown |
Het |
| Syne2 |
T |
C |
12: 76,143,740 (GRCm39) |
F1522L |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,185,783 (GRCm39) |
A470T |
possibly damaging |
Het |
| Tent4a |
A |
C |
13: 69,658,785 (GRCm39) |
M350R |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,694,912 (GRCm39) |
E182* |
probably null |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
C |
T |
1: 84,771,591 (GRCm39) |
A186T |
probably damaging |
Het |
| Ufc1 |
C |
T |
1: 171,116,529 (GRCm39) |
A147T |
probably damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,777 (GRCm39) |
K314R |
possibly damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,767 (GRCm39) |
I698F |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,795 (GRCm39) |
K607R |
probably damaging |
Het |
| Vwa3b |
T |
C |
1: 37,196,457 (GRCm39) |
V28A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,373,236 (GRCm39) |
N166S |
possibly damaging |
Het |
| Wfdc17 |
G |
A |
11: 83,595,634 (GRCm39) |
G33R |
probably damaging |
Het |
| Zfp330 |
T |
G |
8: 83,491,545 (GRCm39) |
K209N |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,934,526 (GRCm39) |
T160A |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,610,940 (GRCm39) |
C262S |
possibly damaging |
Het |
|
| Other mutations in Vmn2r13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Vmn2r13
|
APN |
5 |
109,303,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Vmn2r13
|
APN |
5 |
109,304,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01946:Vmn2r13
|
APN |
5 |
109,322,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01971:Vmn2r13
|
APN |
5 |
109,321,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02636:Vmn2r13
|
APN |
5 |
109,339,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03062:Vmn2r13
|
APN |
5 |
109,304,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03173:Vmn2r13
|
APN |
5 |
109,319,645 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03301:Vmn2r13
|
APN |
5 |
109,305,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03383:Vmn2r13
|
APN |
5 |
109,304,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03048:Vmn2r13
|
UTSW |
5 |
109,304,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Vmn2r13
|
UTSW |
5 |
109,322,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0134:Vmn2r13
|
UTSW |
5 |
109,322,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0220:Vmn2r13
|
UTSW |
5 |
109,304,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0225:Vmn2r13
|
UTSW |
5 |
109,322,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0393:Vmn2r13
|
UTSW |
5 |
109,304,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0410:Vmn2r13
|
UTSW |
5 |
109,321,679 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0787:Vmn2r13
|
UTSW |
5 |
109,304,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1200:Vmn2r13
|
UTSW |
5 |
109,322,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Vmn2r13
|
UTSW |
5 |
109,322,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Vmn2r13
|
UTSW |
5 |
109,306,040 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1939:Vmn2r13
|
UTSW |
5 |
109,339,852 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2029:Vmn2r13
|
UTSW |
5 |
109,339,943 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2125:Vmn2r13
|
UTSW |
5 |
109,306,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r13
|
UTSW |
5 |
109,306,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2379:Vmn2r13
|
UTSW |
5 |
109,319,644 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2680:Vmn2r13
|
UTSW |
5 |
109,322,178 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2888:Vmn2r13
|
UTSW |
5 |
109,339,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2889:Vmn2r13
|
UTSW |
5 |
109,339,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2890:Vmn2r13
|
UTSW |
5 |
109,339,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3014:Vmn2r13
|
UTSW |
5 |
109,319,627 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3683:Vmn2r13
|
UTSW |
5 |
109,304,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Vmn2r13
|
UTSW |
5 |
109,304,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Vmn2r13
|
UTSW |
5 |
109,304,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Vmn2r13
|
UTSW |
5 |
109,323,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4805:Vmn2r13
|
UTSW |
5 |
109,304,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Vmn2r13
|
UTSW |
5 |
109,321,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4943:Vmn2r13
|
UTSW |
5 |
109,322,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5263:Vmn2r13
|
UTSW |
5 |
109,321,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5297:Vmn2r13
|
UTSW |
5 |
109,339,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5502:Vmn2r13
|
UTSW |
5 |
109,321,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Vmn2r13
|
UTSW |
5 |
109,339,860 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5563:Vmn2r13
|
UTSW |
5 |
109,321,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5819:Vmn2r13
|
UTSW |
5 |
109,321,966 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6074:Vmn2r13
|
UTSW |
5 |
109,322,167 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6416:Vmn2r13
|
UTSW |
5 |
109,321,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6484:Vmn2r13
|
UTSW |
5 |
109,304,540 (GRCm39) |
nonsense |
probably null |
|
|
R6486:Vmn2r13
|
UTSW |
5 |
109,304,425 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6545:Vmn2r13
|
UTSW |
5 |
109,304,806 (GRCm39) |
splice site |
probably null |
|
|
R6700:Vmn2r13
|
UTSW |
5 |
109,322,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6897:Vmn2r13
|
UTSW |
5 |
109,306,015 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6957:Vmn2r13
|
UTSW |
5 |
109,304,753 (GRCm39) |
nonsense |
probably null |
|
|
R7276:Vmn2r13
|
UTSW |
5 |
109,321,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Vmn2r13
|
UTSW |
5 |
109,339,909 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7443:Vmn2r13
|
UTSW |
5 |
109,339,909 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7555:Vmn2r13
|
UTSW |
5 |
109,319,557 (GRCm39) |
splice site |
probably null |
|
|
R7607:Vmn2r13
|
UTSW |
5 |
109,321,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7719:Vmn2r13
|
UTSW |
5 |
109,319,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8116:Vmn2r13
|
UTSW |
5 |
109,322,926 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8242:Vmn2r13
|
UTSW |
5 |
109,322,872 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8294:Vmn2r13
|
UTSW |
5 |
109,322,978 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8340:Vmn2r13
|
UTSW |
5 |
109,322,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8692:Vmn2r13
|
UTSW |
5 |
109,319,514 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8742:Vmn2r13
|
UTSW |
5 |
109,304,263 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9022:Vmn2r13
|
UTSW |
5 |
109,304,242 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9281:Vmn2r13
|
UTSW |
5 |
109,303,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9529:Vmn2r13
|
UTSW |
5 |
109,304,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Vmn2r13
|
UTSW |
5 |
109,322,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9746:Vmn2r13
|
UTSW |
5 |
109,339,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0066:Vmn2r13
|
UTSW |
5 |
109,304,085 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTTGGTGTCCCAGTATG -3'
(R):5'- CCAAACTTATCATATCATAGTGCCC -3'
Sequencing Primer
(F):5'- CCTTGGTGTCCCAGTATGAATTGAC -3'
(R):5'- GTGCCCTATGACTATGAATT -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation