Incidental Mutation 'R6611:Or5j1'
| ID |
523555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5j1
|
| Ensembl Gene |
ENSMUSG00000075164 |
| Gene Name |
olfactory receptor family 5 subfamily J member 1 |
| Synonyms |
GA_x6K02T2Q125-48541463-48540525, Olfr1106, MOR172-8_p, MOR172-6 |
| MMRRC Submission |
044734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R6611 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
86878640-86879578 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 86879577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099867]
[ENSMUST00000213781]
[ENSMUST00000217650]
|
| AlphaFold |
Q7TR57 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099867
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097452
Gene: ENSMUSG00000075164
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.2e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213781
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217650
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| 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 |
|---|
| 1810009J06Rik |
A |
T |
6: 40,943,713 (GRCm39) |
T126S |
probably benign |
Het |
| Bex6 |
A |
G |
16: 32,005,483 (GRCm39) |
K97R |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,459,658 (GRCm39) |
L311P |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdc16 |
C |
A |
8: 13,831,512 (GRCm39) |
P582T |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,397,377 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,660,128 (GRCm39) |
Y666H |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,143,313 (GRCm39) |
F527L |
probably damaging |
Het |
| Drc3 |
G |
T |
11: 60,255,773 (GRCm39) |
R120L |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,777,036 (GRCm39) |
R1133S |
possibly damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,445,735 (GRCm39) |
V834A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,915,318 (GRCm38) |
Y1483C |
probably damaging |
Het |
| Fstl4 |
A |
T |
11: 53,077,552 (GRCm39) |
M770L |
probably benign |
Het |
| Gm10428 |
A |
T |
11: 62,644,115 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
C |
A |
9: 44,252,988 (GRCm39) |
R15L |
probably damaging |
Het |
| Irx3 |
T |
C |
8: 92,526,631 (GRCm39) |
T358A |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,760,569 (GRCm39) |
I460L |
probably damaging |
Het |
| Mob2 |
G |
T |
7: 141,563,293 (GRCm39) |
F55L |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 59,202,228 (GRCm39) |
L612P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,056 (GRCm39) |
|
probably null |
Het |
| Or4d5 |
T |
C |
9: 40,012,316 (GRCm39) |
I157V |
probably benign |
Het |
| Or8b44 |
A |
T |
9: 38,410,534 (GRCm39) |
T190S |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,640 (GRCm39) |
E247G |
probably damaging |
Het |
| Phykpl |
G |
T |
11: 51,489,181 (GRCm39) |
A336S |
probably damaging |
Het |
| Pik3r4 |
T |
G |
9: 105,521,476 (GRCm39) |
L14R |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,320,393 (GRCm39) |
I300T |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,780,140 (GRCm39) |
C132G |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Slc9a9 |
G |
T |
9: 94,821,531 (GRCm39) |
R306L |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,206,283 (GRCm39) |
V681A |
probably benign |
Het |
| Snap91 |
C |
T |
9: 86,672,180 (GRCm39) |
S646N |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,314,450 (GRCm39) |
N368S |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 4,995,273 (GRCm39) |
N8326K |
probably benign |
Het |
| Traf3 |
T |
G |
12: 111,204,074 (GRCm39) |
L21R |
possibly damaging |
Het |
| Ubxn11 |
C |
A |
4: 133,850,910 (GRCm39) |
T254K |
probably damaging |
Het |
|
| Other mutations in Or5j1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01610:Or5j1
|
APN |
2 |
86,878,632 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02326:Or5j1
|
APN |
2 |
86,879,355 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03087:Or5j1
|
APN |
2 |
86,879,356 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0040:Or5j1
|
UTSW |
2 |
86,879,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0256:Or5j1
|
UTSW |
2 |
86,879,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0487:Or5j1
|
UTSW |
2 |
86,878,837 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0730:Or5j1
|
UTSW |
2 |
86,879,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1978:Or5j1
|
UTSW |
2 |
86,879,179 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5335:Or5j1
|
UTSW |
2 |
86,879,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Or5j1
|
UTSW |
2 |
86,878,942 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7322:Or5j1
|
UTSW |
2 |
86,878,823 (GRCm39) |
nonsense |
probably null |
|
|
R7584:Or5j1
|
UTSW |
2 |
86,879,478 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7731:Or5j1
|
UTSW |
2 |
86,879,578 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R8011:Or5j1
|
UTSW |
2 |
86,879,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8959:Or5j1
|
UTSW |
2 |
86,879,551 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9102:Or5j1
|
UTSW |
2 |
86,879,171 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1088:Or5j1
|
UTSW |
2 |
86,878,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCAATGTGGGTGCAAATAC -3'
(R):5'- TCATGGGGAGGTGCCATAAG -3'
Sequencing Primer
(F):5'- CAATGTGGGTGCAAATACTGATG -3'
(R):5'- TGGGGAGGTGCCATAAGTATTATAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation