Incidental Mutation 'R6130:Or1j21'
| ID |
487073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1j21
|
| Ensembl Gene |
ENSMUSG00000111021 |
| Gene Name |
olfactory receptor family 1 subfamily J member 21 |
| Synonyms |
MOR136-6, GA_x6K02T2NLDC-33487752-33488690, ID3, Olfr50 |
| MMRRC Submission |
044277-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.278)
|
| Stock # |
R6130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
36683250-36684188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36684055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 269
(D269V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072114]
[ENSMUST00000112950]
[ENSMUST00000213498]
[ENSMUST00000214909]
[ENSMUST00000215199]
[ENSMUST00000216753]
[ENSMUST00000217041]
|
| AlphaFold |
Q8VGK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072114
AA Change: D269V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: D269V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
3.3e-57 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
3.8e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.1e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112950
AA Change: D269V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: D269V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
3e-6 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3.5e-34 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
3.9e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216753
AA Change: D269V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217041
AA Change: D269V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Meta Mutation Damage Score |
0.1141 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (46/48) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abi3 |
T |
A |
11: 95,727,921 (GRCm39) |
E90V |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,575,864 (GRCm39) |
V4834G |
probably damaging |
Het |
| Aen |
A |
T |
7: 78,552,387 (GRCm39) |
|
probably null |
Het |
| Ankrd55 |
A |
G |
13: 112,454,980 (GRCm39) |
D26G |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,152,131 (GRCm39) |
E160G |
possibly damaging |
Het |
| Auts2 |
T |
C |
5: 131,469,061 (GRCm39) |
H528R |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,641,948 (GRCm39) |
T742A |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,895,341 (GRCm39) |
|
probably null |
Het |
| Ctla4 |
T |
C |
1: 60,951,650 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dennd4b |
T |
C |
3: 90,183,566 (GRCm39) |
L935P |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,165,477 (GRCm39) |
T543S |
probably benign |
Het |
| Dnai3 |
A |
C |
3: 145,748,559 (GRCm39) |
Y852D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,683,902 (GRCm39) |
R420* |
probably null |
Het |
| Flg |
A |
G |
3: 93,200,023 (GRCm39) |
|
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,897 (GRCm39) |
I31F |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
T |
A |
9: 78,149,847 (GRCm39) |
F220Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,395,891 (GRCm39) |
|
probably null |
Het |
| Igf2bp1 |
A |
C |
11: 95,864,846 (GRCm39) |
L201R |
probably damaging |
Het |
| Jph3 |
G |
A |
8: 122,479,826 (GRCm39) |
R168H |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,964,623 (GRCm39) |
I1318F |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,523 (GRCm39) |
N717S |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,622,569 (GRCm39) |
S450C |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,501,994 (GRCm39) |
V6535A |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,489,882 (GRCm39) |
T18A |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,103,598 (GRCm39) |
K22E |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,968,771 (GRCm39) |
S2534A |
possibly damaging |
Het |
| Or2ak5 |
A |
G |
11: 58,611,133 (GRCm39) |
V247A |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,580 (GRCm39) |
N545K |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,455,128 (GRCm39) |
P233L |
probably benign |
Het |
| Scap |
A |
G |
9: 110,209,447 (GRCm39) |
T707A |
possibly damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,565 (GRCm39) |
Q669R |
probably benign |
Het |
| Scin |
T |
C |
12: 40,119,435 (GRCm39) |
D531G |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,953,626 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,155 (GRCm39) |
S657G |
probably benign |
Het |
| Stil |
T |
A |
4: 114,887,058 (GRCm39) |
|
probably null |
Het |
| Syna |
T |
A |
5: 134,587,122 (GRCm39) |
Q609L |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,937,255 (GRCm39) |
S271P |
probably damaging |
Het |
| Tns2 |
A |
G |
15: 102,019,676 (GRCm39) |
E522G |
probably damaging |
Het |
| Trappc6a |
G |
A |
7: 19,249,219 (GRCm39) |
A149T |
probably benign |
Het |
| Trim21 |
A |
T |
7: 102,212,498 (GRCm39) |
L156H |
possibly damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,309 (GRCm39) |
R714G |
possibly damaging |
Het |
| Zfp87 |
T |
A |
13: 74,520,460 (GRCm39) |
Q206L |
possibly damaging |
Het |
|
| Other mutations in Or1j21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Or1j21
|
APN |
2 |
36,684,012 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02316:Or1j21
|
APN |
2 |
36,683,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02330:Or1j21
|
APN |
2 |
36,683,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03144:Or1j21
|
APN |
2 |
36,684,093 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0092:Or1j21
|
UTSW |
2 |
36,683,508 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0113:Or1j21
|
UTSW |
2 |
36,684,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0113:Or1j21
|
UTSW |
2 |
36,684,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0604:Or1j21
|
UTSW |
2 |
36,684,119 (GRCm39) |
nonsense |
probably null |
|
|
R0932:Or1j21
|
UTSW |
2 |
36,683,903 (GRCm39) |
nonsense |
probably null |
|
|
R1191:Or1j21
|
UTSW |
2 |
36,683,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1238:Or1j21
|
UTSW |
2 |
36,683,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Or1j21
|
UTSW |
2 |
36,684,155 (GRCm39) |
missense |
probably null |
0.01 |
|
R3103:Or1j21
|
UTSW |
2 |
36,683,574 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3955:Or1j21
|
UTSW |
2 |
36,683,565 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4573:Or1j21
|
UTSW |
2 |
36,683,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5256:Or1j21
|
UTSW |
2 |
36,683,685 (GRCm39) |
missense |
probably benign |
|
|
R5650:Or1j21
|
UTSW |
2 |
36,683,277 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6175:Or1j21
|
UTSW |
2 |
36,683,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:Or1j21
|
UTSW |
2 |
36,683,585 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6481:Or1j21
|
UTSW |
2 |
36,683,789 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7164:Or1j21
|
UTSW |
2 |
36,683,709 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7622:Or1j21
|
UTSW |
2 |
36,683,943 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8391:Or1j21
|
UTSW |
2 |
36,684,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8846:Or1j21
|
UTSW |
2 |
36,683,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTGGTCATCACTGTACC -3'
(R):5'- GCACCAAGTCAAAGCATTATGTAC -3'
Sequencing Primer
(F):5'- GTGGTCATCACTGTACCATTCATATG -3'
(R):5'- ATGTACAGGACTGAGAAGTTCTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation