Incidental Mutation 'R5455:Or10j7'
| ID |
432701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10j7
|
| Ensembl Gene |
ENSMUSG00000058981 |
| Gene Name |
olfactory receptor family 10 subfamily J member 7 |
| Synonyms |
GA_x6K02T2R7CC-664297-665229, MOR267-5, Olfr1406 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R5455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173011009-173012071 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 173011818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 61
(F61S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072395]
[ENSMUST00000201132]
[ENSMUST00000215878]
|
| AlphaFold |
E9Q8X1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072395
AA Change: F61S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072231
Gene: ENSMUSG00000058981
AA Change: F61S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
3.9e-55 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
2.7e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201132
AA Change: F61S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144530
Gene: ENSMUSG00000058981
AA Change: F61S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
88 |
5.4e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215878
AA Change: F61S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,632,034 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,725,679 (GRCm39) |
V2134A |
probably benign |
Het |
| Cct6b |
T |
G |
11: 82,645,943 (GRCm39) |
I80L |
probably benign |
Het |
| Cfap20dc |
A |
T |
14: 8,536,516 (GRCm38) |
|
probably null |
Het |
| Crebbp |
C |
A |
16: 3,903,831 (GRCm39) |
V1765L |
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,821,772 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,236 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,113 (GRCm39) |
T112K |
possibly damaging |
Het |
| Dmrtc2 |
A |
C |
7: 24,571,916 (GRCm39) |
S4R |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,052,717 (GRCm39) |
V2988I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,400,262 (GRCm39) |
S705P |
possibly damaging |
Het |
| Gm10306 |
T |
G |
4: 94,445,077 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,643,860 (GRCm39) |
L3P |
unknown |
Het |
| Kcnn4 |
T |
C |
7: 24,076,978 (GRCm39) |
S176P |
probably damaging |
Het |
| Maml2 |
T |
A |
9: 13,617,039 (GRCm39) |
Y128* |
probably null |
Het |
| Map2 |
G |
A |
1: 66,438,550 (GRCm39) |
E25K |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,584 (GRCm39) |
M63L |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,348,062 (GRCm39) |
I569V |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,192,244 (GRCm39) |
R1399H |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,606 (GRCm39) |
I424T |
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,803,669 (GRCm39) |
R265G |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,058,392 (GRCm39) |
T14A |
probably benign |
Het |
| Or7a36 |
C |
T |
10: 78,820,371 (GRCm39) |
S249F |
possibly damaging |
Het |
| Pced1b |
C |
A |
15: 97,282,274 (GRCm39) |
S104R |
probably benign |
Het |
| Pdia2 |
T |
G |
17: 26,416,137 (GRCm39) |
Q310P |
probably null |
Het |
| Ppil6 |
A |
G |
10: 41,374,541 (GRCm39) |
T141A |
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,111,355 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
A |
G |
10: 9,684,252 (GRCm39) |
S573P |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,954,194 (GRCm39) |
H121L |
probably benign |
Het |
| Vmn2r99 |
T |
A |
17: 19,614,408 (GRCm39) |
C709* |
probably null |
Het |
| Vstm4 |
A |
G |
14: 32,585,835 (GRCm39) |
H134R |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,452,262 (GRCm39) |
C1569Y |
unknown |
Het |
| Zdhhc13 |
A |
G |
7: 48,455,323 (GRCm39) |
T122A |
possibly damaging |
Het |
| Zpbp2 |
G |
T |
11: 98,448,429 (GRCm39) |
V249L |
probably benign |
Het |
|
| Other mutations in Or10j7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Or10j7
|
APN |
1 |
173,011,190 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01609:Or10j7
|
APN |
1 |
173,011,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01996:Or10j7
|
APN |
1 |
173,011,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
F5770:Or10j7
|
UTSW |
1 |
173,011,531 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4378001:Or10j7
|
UTSW |
1 |
173,011,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0053:Or10j7
|
UTSW |
1 |
173,011,845 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0800:Or10j7
|
UTSW |
1 |
173,011,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Or10j7
|
UTSW |
1 |
173,011,976 (GRCm39) |
missense |
probably benign |
|
|
R2230:Or10j7
|
UTSW |
1 |
173,011,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2232:Or10j7
|
UTSW |
1 |
173,011,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5395:Or10j7
|
UTSW |
1 |
173,011,247 (GRCm39) |
nonsense |
probably null |
|
|
R5457:Or10j7
|
UTSW |
1 |
173,011,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Or10j7
|
UTSW |
1 |
173,011,585 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5760:Or10j7
|
UTSW |
1 |
173,011,318 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6285:Or10j7
|
UTSW |
1 |
173,011,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Or10j7
|
UTSW |
1 |
173,011,890 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7676:Or10j7
|
UTSW |
1 |
173,011,120 (GRCm39) |
nonsense |
probably null |
|
|
R8700:Or10j7
|
UTSW |
1 |
173,011,429 (GRCm39) |
missense |
probably benign |
|
|
R8829:Or10j7
|
UTSW |
1 |
173,011,458 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9721:Or10j7
|
UTSW |
1 |
173,011,915 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9785:Or10j7
|
UTSW |
1 |
173,011,458 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9788:Or10j7
|
UTSW |
1 |
173,011,458 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9789:Or10j7
|
UTSW |
1 |
173,011,458 (GRCm39) |
missense |
probably benign |
0.06 |
|
V7580:Or10j7
|
UTSW |
1 |
173,011,531 (GRCm39) |
missense |
probably benign |
0.05 |
|
V7581:Or10j7
|
UTSW |
1 |
173,011,531 (GRCm39) |
missense |
probably benign |
0.05 |
|
V7582:Or10j7
|
UTSW |
1 |
173,011,531 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCCTCCAATTCATGATGACG -3'
(R):5'- CAACTGCACACATGTAAGAGAG -3'
Sequencing Primer
(F):5'- TTGCAGATGGCCACATAGC -3'
(R):5'- AAGAGAGTTTGTTTTCCAAGGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation