Incidental Mutation 'R6473:Vmn1r21'
| ID |
520336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r21
|
| Ensembl Gene |
ENSMUSG00000115343 |
| Gene Name |
vomeronasal 1 receptor 21 |
| Synonyms |
V1rc28 |
| MMRRC Submission |
044606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6473 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57820549-57821442 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57820583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 287
(I287K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081186]
[ENSMUST00000203310]
[ENSMUST00000203488]
[ENSMUST00000226191]
|
| AlphaFold |
Q8R2C6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081186
AA Change: I287K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079950
Gene: ENSMUSG00000058588
AA Change: I287K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
5.9e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203270
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203310
AA Change: I287K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145398
Gene: ENSMUSG00000115343
AA Change: I287K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
27 |
107 |
1.8e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203488
AA Change: I287K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144978
Gene: ENSMUSG00000115343
AA Change: I287K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
105 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226191
AA Change: I287K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,596,531 (GRCm39) |
D106G |
probably damaging |
Het |
| Adat3 |
A |
G |
10: 80,442,801 (GRCm39) |
D213G |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,628,694 (GRCm39) |
D32G |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,002,962 (GRCm39) |
R61* |
probably null |
Het |
| Ash2l |
T |
A |
8: 26,325,008 (GRCm39) |
T184S |
probably damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
| Chmp2b |
C |
T |
16: 65,343,758 (GRCm39) |
G96S |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,968 (GRCm39) |
N248S |
probably benign |
Het |
| Cyp46a1 |
G |
T |
12: 108,321,734 (GRCm39) |
R320L |
possibly damaging |
Het |
| Dact1 |
A |
G |
12: 71,364,472 (GRCm39) |
T418A |
probably benign |
Het |
| Ddx3y |
T |
C |
Y: 1,265,971 (GRCm39) |
Y342C |
possibly damaging |
Homo |
| Dnm3 |
T |
A |
1: 162,305,274 (GRCm39) |
Q40L |
probably damaging |
Het |
| Eif2s1 |
T |
C |
12: 78,927,999 (GRCm39) |
I225T |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,456,096 (GRCm39) |
I795N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,687 (GRCm39) |
|
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,025,672 (GRCm39) |
I551T |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,997,404 (GRCm39) |
T755A |
probably benign |
Het |
| Mrps31 |
A |
G |
8: 22,904,881 (GRCm39) |
D90G |
probably benign |
Het |
| Or14j4 |
T |
A |
17: 37,920,887 (GRCm39) |
T252S |
possibly damaging |
Het |
| Or5h23 |
A |
T |
16: 58,906,406 (GRCm39) |
L147M |
probably benign |
Het |
| P2ry12 |
T |
A |
3: 59,124,932 (GRCm39) |
I248F |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,952,955 (GRCm39) |
R760G |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slpi |
T |
C |
2: 164,196,846 (GRCm39) |
Y116C |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,669 (GRCm39) |
E425V |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,906,058 (GRCm39) |
S281P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,317,792 (GRCm39) |
M1V |
probably null |
Het |
| Usp16 |
G |
A |
16: 87,280,023 (GRCm39) |
S741N |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,336,419 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,188 (GRCm39) |
C129R |
probably damaging |
Het |
|
| Other mutations in Vmn1r21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Vmn1r21
|
APN |
6 |
57,821,049 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01366:Vmn1r21
|
APN |
6 |
57,820,799 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01660:Vmn1r21
|
APN |
6 |
57,821,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02864:Vmn1r21
|
APN |
6 |
57,820,661 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02961:Vmn1r21
|
APN |
6 |
57,820,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03170:Vmn1r21
|
APN |
6 |
57,820,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4453001:Vmn1r21
|
UTSW |
6 |
57,821,307 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1800:Vmn1r21
|
UTSW |
6 |
57,820,799 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1928:Vmn1r21
|
UTSW |
6 |
57,821,077 (GRCm39) |
nonsense |
probably null |
|
|
R3407:Vmn1r21
|
UTSW |
6 |
57,820,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Vmn1r21
|
UTSW |
6 |
57,821,079 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6012:Vmn1r21
|
UTSW |
6 |
57,820,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6293:Vmn1r21
|
UTSW |
6 |
57,821,255 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7128:Vmn1r21
|
UTSW |
6 |
57,820,936 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7489:Vmn1r21
|
UTSW |
6 |
57,820,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Vmn1r21
|
UTSW |
6 |
57,821,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8002:Vmn1r21
|
UTSW |
6 |
57,821,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8218:Vmn1r21
|
UTSW |
6 |
57,820,910 (GRCm39) |
missense |
noncoding transcript |
|
|
R8467:Vmn1r21
|
UTSW |
6 |
57,821,441 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8922:Vmn1r21
|
UTSW |
6 |
57,820,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Vmn1r21
|
UTSW |
6 |
57,820,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8932:Vmn1r21
|
UTSW |
6 |
57,820,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8961:Vmn1r21
|
UTSW |
6 |
57,820,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Vmn1r21
|
UTSW |
6 |
57,821,348 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1176:Vmn1r21
|
UTSW |
6 |
57,820,563 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGCAGCAGAAATGTCAAAG -3'
(R):5'- CACCCAGATAATCTTGCTCCTGG -3'
Sequencing Primer
(F):5'- AGAGGATCCCATGAGCTCTTTTGAC -3'
(R):5'- AGATAATCTTGCTCCTGGTAGTTTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation