Incidental Mutation 'R4091:Vmn2r88'
| ID |
317634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r13, V2r3 |
| MMRRC Submission |
041626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51648458-51656984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51652883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 469
(Y469N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022438
AA Change: Y469N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: Y469N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159674
AA Change: Y461N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: Y461N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163019
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228139
AA Change: Y461N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,575,722 (GRCm39) |
S674P |
possibly damaging |
Het |
| Abca3 |
C |
T |
17: 24,616,456 (GRCm39) |
T966M |
probably damaging |
Het |
| Adam2 |
A |
T |
14: 66,267,172 (GRCm39) |
Y696N |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Arhgap25 |
G |
T |
6: 87,440,017 (GRCm39) |
S543R |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,084,738 (GRCm39) |
A3897T |
probably benign |
Het |
| Carns1 |
C |
T |
19: 4,221,682 (GRCm39) |
R191Q |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,611 (GRCm39) |
P895T |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,609,646 (GRCm39) |
I287F |
probably damaging |
Het |
| Cystm1 |
A |
G |
18: 36,499,600 (GRCm39) |
N5S |
unknown |
Het |
| Dnah8 |
T |
C |
17: 30,988,813 (GRCm39) |
V3261A |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,550 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,894,266 (GRCm39) |
S1847P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,131,881 (GRCm39) |
V1642A |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,730,242 (GRCm39) |
|
probably null |
Het |
| Fam221b |
A |
G |
4: 43,665,987 (GRCm39) |
I208T |
probably benign |
Het |
| Gpr141b |
T |
A |
13: 19,913,635 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,301 (GRCm39) |
I255V |
probably benign |
Het |
| Grm7 |
G |
A |
6: 110,891,301 (GRCm39) |
S178N |
probably damaging |
Het |
| Hspa12b |
T |
A |
2: 130,975,408 (GRCm39) |
|
probably null |
Het |
| Kctd3 |
A |
T |
1: 188,727,917 (GRCm39) |
|
probably benign |
Het |
| Kynu |
G |
A |
2: 43,569,884 (GRCm39) |
V389M |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,666,538 (GRCm39) |
L328P |
probably benign |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Maml1 |
G |
A |
11: 50,182,656 (GRCm39) |
P78L |
probably benign |
Het |
| Mef2b |
G |
A |
8: 70,617,752 (GRCm39) |
V37M |
probably damaging |
Het |
| Mindy2 |
A |
T |
9: 70,541,342 (GRCm39) |
M281K |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Mtr |
A |
T |
13: 12,245,943 (GRCm39) |
V394E |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,282,415 (GRCm39) |
T745S |
possibly damaging |
Het |
| Nme9 |
T |
A |
9: 99,346,580 (GRCm39) |
D131E |
possibly damaging |
Het |
| Nphp4 |
C |
A |
4: 152,631,475 (GRCm39) |
Q792K |
probably damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,523,444 (GRCm39) |
C479S |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,871 (GRCm39) |
I406T |
probably damaging |
Het |
| Or10a49 |
G |
A |
7: 108,467,650 (GRCm39) |
A237V |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,143 (GRCm39) |
D71V |
probably damaging |
Het |
| Or8g28 |
T |
A |
9: 39,169,330 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,757,960 (GRCm39) |
T197A |
probably benign |
Het |
| Pla2r1 |
T |
A |
2: 60,262,937 (GRCm39) |
N1034I |
probably damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,552,068 (GRCm39) |
D744E |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,887 (GRCm39) |
N125D |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,381,909 (GRCm39) |
V121M |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,993,897 (GRCm39) |
D247E |
possibly damaging |
Het |
| Smg9 |
T |
A |
7: 24,120,292 (GRCm39) |
L422Q |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tle5 |
G |
A |
10: 81,401,418 (GRCm39) |
G162D |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,585,915 (GRCm39) |
D954V |
probably benign |
Het |
| Vmn1r227 |
T |
A |
17: 20,955,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r11 |
A |
C |
5: 109,202,616 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,238 (GRCm39) |
M200K |
probably damaging |
Het |
| Wdcp |
A |
G |
12: 4,905,279 (GRCm39) |
N600S |
probably null |
Het |
| Wdfy4 |
T |
G |
14: 32,847,837 (GRCm39) |
R838S |
possibly damaging |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,650,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,655,437 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,651,611 (GRCm39) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,655,830 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,651,597 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,651,959 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,655,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,656,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,654,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,650,487 (GRCm39) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,655,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,655,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,650,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,651,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,651,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,656,146 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,651,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,656,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,651,435 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,650,647 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,650,746 (GRCm39) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,655,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,655,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,655,531 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,656,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,655,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,650,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,650,796 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,650,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,650,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,648,603 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,651,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,656,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,655,606 (GRCm39) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,652,826 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,651,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,651,426 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,656,100 (GRCm39) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,651,253 (GRCm39) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,655,776 (GRCm39) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,651,712 (GRCm39) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,648,315 (GRCm39) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,651,454 (GRCm39) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,655,446 (GRCm39) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,655,906 (GRCm39) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,656,160 (GRCm39) |
missense |
|
|
|
R7882:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7957:Vmn2r88
|
UTSW |
14 |
51,650,589 (GRCm39) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,651,565 (GRCm39) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,651,564 (GRCm39) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,656,157 (GRCm39) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,656,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,650,530 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,651,523 (GRCm39) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,656,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,648,593 (GRCm39) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,655,983 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,650,624 (GRCm39) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,651,490 (GRCm39) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,648,329 (GRCm39) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,650,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,656,197 (GRCm39) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,648,641 (GRCm39) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,651,189 (GRCm39) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,650,584 (GRCm39) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,651,289 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,654,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,644 (GRCm39) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,655,503 (GRCm39) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,650,658 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGTTTATTTCACTACAGCTGTC -3'
(R):5'- GGTGCTATTGAACATGCAATCC -3'
Sequencing Primer
(F):5'- ACTACAGCTGTCTATTCTGAAAAATC -3'
(R):5'- GCCCAGATTAACATGCAGTTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation