Incidental Mutation 'R2290:Vmn2r72'
| ID |
244269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r72
|
| Ensembl Gene |
ENSMUSG00000051877 |
| Gene Name |
vomeronasal 2, receptor 72 |
| Synonyms |
EG244114, Vmn2r72-ps |
| MMRRC Submission |
040289-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R2290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85386992-85404189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85387549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 672
(T672S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063425]
|
| AlphaFold |
D3Z4N8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063425
AA Change: T672S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133014
Gene: ENSMUSG00000051877
AA Change: T672S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
82 |
469 |
2.3e-28 |
PFAM |
|
Pfam:NCD3G
|
512 |
564 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
594 |
832 |
4e-53 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (73/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
C |
10: 83,363,177 (GRCm39) |
D62G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,061,924 (GRCm39) |
Y335C |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,699,418 (GRCm39) |
G206D |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,857,587 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,586,056 (GRCm39) |
N145I |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,720,423 (GRCm39) |
I2565T |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,761,574 (GRCm39) |
M840K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,948 (GRCm39) |
V331A |
possibly damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,479,941 (GRCm39) |
T829A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,218,950 (GRCm39) |
G1457E |
probably damaging |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,527 (GRCm39) |
N230S |
unknown |
Het |
| Dll1 |
T |
C |
17: 15,595,010 (GRCm39) |
D89G |
probably benign |
Het |
| Dst |
T |
A |
1: 34,268,281 (GRCm39) |
V2901E |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,426,878 (GRCm39) |
K1125N |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,721,688 (GRCm39) |
F437L |
probably benign |
Het |
| Eqtn |
GTTCTTCTTC |
GTTCTTC |
4: 94,815,179 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Gm38999 |
A |
G |
7: 43,077,123 (GRCm39) |
E5G |
probably benign |
Het |
| Gm5828 |
C |
T |
1: 16,838,568 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,141,803 (GRCm39) |
F717L |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,066,338 (GRCm39) |
S683C |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,400,845 (GRCm39) |
T495I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,324,326 (GRCm39) |
N135D |
probably damaging |
Het |
| Kcns2 |
T |
A |
15: 34,838,655 (GRCm39) |
L6Q |
possibly damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,901,610 (GRCm39) |
R132C |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,522 (GRCm39) |
V587A |
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,897,875 (GRCm39) |
H425L |
possibly damaging |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lrrc8e |
T |
C |
8: 4,281,770 (GRCm39) |
M35T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,152,359 (GRCm39) |
N1048S |
probably damaging |
Het |
| Mex3c |
A |
C |
18: 73,723,764 (GRCm39) |
N619T |
probably damaging |
Het |
| Mfsd4b1 |
G |
A |
10: 39,879,327 (GRCm39) |
T190I |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,434,951 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,076 (GRCm39) |
G133S |
probably damaging |
Het |
| Oplah |
A |
G |
15: 76,186,925 (GRCm39) |
V630A |
probably benign |
Het |
| Or1e26 |
G |
T |
11: 73,479,745 (GRCm39) |
A273D |
probably benign |
Het |
| Or2y1 |
A |
G |
11: 49,385,857 (GRCm39) |
M166V |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,544 (GRCm39) |
V210M |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,974 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,604,334 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,646 (GRCm39) |
T1571S |
probably benign |
Het |
| Pramel13 |
T |
A |
4: 144,121,269 (GRCm39) |
T252S |
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,121,692 (GRCm39) |
H111N |
probably benign |
Het |
| Prr22 |
T |
G |
17: 57,078,884 (GRCm39) |
F346V |
probably benign |
Het |
| Prr30 |
T |
C |
14: 101,436,211 (GRCm39) |
N117S |
possibly damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,984,677 (GRCm39) |
S172P |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 138,038,926 (GRCm39) |
V364I |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,990 (GRCm39) |
S1027P |
probably damaging |
Het |
| Rinl |
T |
C |
7: 28,491,696 (GRCm39) |
V83A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,994,477 (GRCm39) |
S1268T |
probably damaging |
Het |
| Scly |
T |
C |
1: 91,226,172 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
C |
T |
16: 17,743,712 (GRCm39) |
V186M |
possibly damaging |
Het |
| Stk36 |
T |
G |
1: 74,665,303 (GRCm39) |
|
probably benign |
Het |
| Syn2 |
A |
G |
6: 115,251,190 (GRCm39) |
T449A |
possibly damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,150,881 (GRCm39) |
D309G |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,978,603 (GRCm39) |
S435P |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,458 (GRCm39) |
Y775N |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,923,190 (GRCm39) |
G177D |
possibly damaging |
Het |
| Twf1 |
A |
G |
15: 94,484,400 (GRCm39) |
S41P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,112,625 (GRCm39) |
T2174M |
probably damaging |
Het |
| Vangl2 |
T |
A |
1: 171,836,113 (GRCm39) |
K340* |
probably null |
Het |
| Vwa7 |
A |
G |
17: 35,236,187 (GRCm39) |
D47G |
probably damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,223 (GRCm39) |
H331R |
probably benign |
Het |
| Zfa-ps |
T |
C |
10: 52,421,112 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp141 |
A |
T |
7: 42,124,649 (GRCm39) |
C608S |
probably damaging |
Het |
| Zfp422 |
A |
G |
6: 116,603,603 (GRCm39) |
I132T |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,849 (GRCm39) |
Y258C |
possibly damaging |
Het |
|
| Other mutations in Vmn2r72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00931:Vmn2r72
|
APN |
7 |
85,398,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01019:Vmn2r72
|
APN |
7 |
85,387,542 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01445:Vmn2r72
|
APN |
7 |
85,398,854 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02076:Vmn2r72
|
APN |
7 |
85,387,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02086:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02089:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02125:Vmn2r72
|
APN |
7 |
85,399,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02146:Vmn2r72
|
APN |
7 |
85,387,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Vmn2r72
|
APN |
7 |
85,399,901 (GRCm39) |
missense |
probably benign |
|
|
IGL02514:Vmn2r72
|
APN |
7 |
85,387,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02662:Vmn2r72
|
APN |
7 |
85,387,391 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02697:Vmn2r72
|
APN |
7 |
85,387,879 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02733:Vmn2r72
|
APN |
7 |
85,401,021 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03070:Vmn2r72
|
APN |
7 |
85,401,249 (GRCm39) |
splice site |
probably benign |
|
|
IGL03150:Vmn2r72
|
APN |
7 |
85,400,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03159:Vmn2r72
|
APN |
7 |
85,404,162 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03333:Vmn2r72
|
APN |
7 |
85,400,075 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0081:Vmn2r72
|
UTSW |
7 |
85,401,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0090:Vmn2r72
|
UTSW |
7 |
85,404,084 (GRCm39) |
missense |
probably benign |
|
|
R0655:Vmn2r72
|
UTSW |
7 |
85,387,319 (GRCm39) |
nonsense |
probably null |
|
|
R0778:Vmn2r72
|
UTSW |
7 |
85,398,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1169:Vmn2r72
|
UTSW |
7 |
85,400,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1172:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1173:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Vmn2r72
|
UTSW |
7 |
85,398,396 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1302:Vmn2r72
|
UTSW |
7 |
85,387,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1506:Vmn2r72
|
UTSW |
7 |
85,398,419 (GRCm39) |
missense |
probably benign |
|
|
R1632:Vmn2r72
|
UTSW |
7 |
85,401,000 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1775:Vmn2r72
|
UTSW |
7 |
85,387,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1962:Vmn2r72
|
UTSW |
7 |
85,398,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2201:Vmn2r72
|
UTSW |
7 |
85,387,444 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2327:Vmn2r72
|
UTSW |
7 |
85,387,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2424:Vmn2r72
|
UTSW |
7 |
85,400,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Vmn2r72
|
UTSW |
7 |
85,400,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2860:Vmn2r72
|
UTSW |
7 |
85,400,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2861:Vmn2r72
|
UTSW |
7 |
85,400,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2862:Vmn2r72
|
UTSW |
7 |
85,400,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3009:Vmn2r72
|
UTSW |
7 |
85,398,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3797:Vmn2r72
|
UTSW |
7 |
85,387,285 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3798:Vmn2r72
|
UTSW |
7 |
85,387,285 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3902:Vmn2r72
|
UTSW |
7 |
85,398,943 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3959:Vmn2r72
|
UTSW |
7 |
85,400,339 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3974:Vmn2r72
|
UTSW |
7 |
85,399,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4399:Vmn2r72
|
UTSW |
7 |
85,387,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Vmn2r72
|
UTSW |
7 |
85,387,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Vmn2r72
|
UTSW |
7 |
85,387,036 (GRCm39) |
nonsense |
probably null |
|
|
R4522:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4523:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4533:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4691:Vmn2r72
|
UTSW |
7 |
85,387,119 (GRCm39) |
nonsense |
probably null |
|
|
R4781:Vmn2r72
|
UTSW |
7 |
85,387,069 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4863:Vmn2r72
|
UTSW |
7 |
85,399,806 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4952:Vmn2r72
|
UTSW |
7 |
85,400,317 (GRCm39) |
missense |
probably benign |
|
|
R4991:Vmn2r72
|
UTSW |
7 |
85,400,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4995:Vmn2r72
|
UTSW |
7 |
85,387,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Vmn2r72
|
UTSW |
7 |
85,387,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5174:Vmn2r72
|
UTSW |
7 |
85,387,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5276:Vmn2r72
|
UTSW |
7 |
85,387,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5395:Vmn2r72
|
UTSW |
7 |
85,400,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5560:Vmn2r72
|
UTSW |
7 |
85,401,150 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5933:Vmn2r72
|
UTSW |
7 |
85,387,058 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6033:Vmn2r72
|
UTSW |
7 |
85,387,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Vmn2r72
|
UTSW |
7 |
85,387,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Vmn2r72
|
UTSW |
7 |
85,399,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6362:Vmn2r72
|
UTSW |
7 |
85,400,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Vmn2r72
|
UTSW |
7 |
85,398,892 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6794:Vmn2r72
|
UTSW |
7 |
85,387,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Vmn2r72
|
UTSW |
7 |
85,399,011 (GRCm39) |
splice site |
probably null |
|
|
R7189:Vmn2r72
|
UTSW |
7 |
85,404,125 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7266:Vmn2r72
|
UTSW |
7 |
85,387,482 (GRCm39) |
nonsense |
probably null |
|
|
R7323:Vmn2r72
|
UTSW |
7 |
85,399,771 (GRCm39) |
missense |
probably benign |
|
|
R7426:Vmn2r72
|
UTSW |
7 |
85,400,348 (GRCm39) |
missense |
probably benign |
|
|
R7606:Vmn2r72
|
UTSW |
7 |
85,400,362 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7651:Vmn2r72
|
UTSW |
7 |
85,401,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Vmn2r72
|
UTSW |
7 |
85,404,098 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7753:Vmn2r72
|
UTSW |
7 |
85,399,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Vmn2r72
|
UTSW |
7 |
85,398,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8157:Vmn2r72
|
UTSW |
7 |
85,400,441 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8254:Vmn2r72
|
UTSW |
7 |
85,400,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8389:Vmn2r72
|
UTSW |
7 |
85,401,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8444:Vmn2r72
|
UTSW |
7 |
85,387,383 (GRCm39) |
missense |
probably benign |
|
|
R8989:Vmn2r72
|
UTSW |
7 |
85,404,134 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9015:Vmn2r72
|
UTSW |
7 |
85,398,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9080:Vmn2r72
|
UTSW |
7 |
85,387,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Vmn2r72
|
UTSW |
7 |
85,400,411 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9317:Vmn2r72
|
UTSW |
7 |
85,404,022 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9509:Vmn2r72
|
UTSW |
7 |
85,404,075 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Vmn2r72
|
UTSW |
7 |
85,398,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAATGATGATGTGGCCATG -3'
(R):5'- CTGCGTCTTCCTGAAACACAG -3'
Sequencing Primer
(F):5'- CAATGATGATGTGGCCATGTACCATG -3'
(R):5'- TGAAACACAGAGAAACTCCCATAGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation