Incidental Mutation 'R5390:Or1j1'
| ID |
425502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1j1
|
| Ensembl Gene |
ENSMUSG00000075384 |
| Gene Name |
olfactory receptor family 1 subfamily J member 1 |
| Synonyms |
GA_x6K02T2NLDC-33507606-33506665, Olfr3, MOR136-14, Y71 |
| MMRRC Submission |
042962-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R5390 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
36702161-36703102 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36702444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 220
(R220H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100151]
[ENSMUST00000213988]
|
| AlphaFold |
Q60879 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100151
AA Change: R220H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097728
Gene: ENSMUSG00000075384
AA Change: R220H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.3e-61 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
220 |
2.9e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.3e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213988
AA Change: R220H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830454E08Rik |
T |
C |
9: 120,406,772 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
G |
A |
6: 86,730,865 (GRCm39) |
T104M |
probably damaging |
Het |
| BC048562 |
G |
T |
9: 108,313,777 (GRCm39) |
W9L |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,838,203 (GRCm39) |
M822K |
probably damaging |
Het |
| Clec4g |
C |
A |
8: 3,768,441 (GRCm39) |
V97L |
probably benign |
Het |
| Ddx19a |
G |
A |
8: 111,707,263 (GRCm39) |
Q176* |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,710,096 (GRCm39) |
H1413R |
probably damaging |
Het |
| Fam161b |
C |
T |
12: 84,395,408 (GRCm39) |
V512M |
probably damaging |
Het |
| Glcci1 |
A |
T |
6: 8,537,835 (GRCm39) |
Q151L |
probably benign |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gpnmb |
A |
T |
6: 49,024,775 (GRCm39) |
D269V |
probably damaging |
Het |
| Gpx3 |
A |
T |
11: 54,800,375 (GRCm39) |
D191V |
probably damaging |
Het |
| Grm4 |
C |
T |
17: 27,653,712 (GRCm39) |
C491Y |
probably damaging |
Het |
| H2-M10.4 |
T |
A |
17: 36,771,533 (GRCm39) |
H215L |
probably damaging |
Het |
| Hrc |
T |
A |
7: 44,984,909 (GRCm39) |
L20Q |
probably damaging |
Het |
| Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,322,099 (GRCm39) |
I4584L |
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,807,630 (GRCm39) |
L294Q |
probably damaging |
Het |
| Ints5 |
T |
A |
19: 8,873,931 (GRCm39) |
I630K |
possibly damaging |
Het |
| Kctd10 |
A |
G |
5: 114,503,764 (GRCm39) |
I296T |
possibly damaging |
Het |
| Ltv1 |
G |
A |
10: 13,058,103 (GRCm39) |
R234C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,546 (GRCm39) |
S1507P |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
| Ms4a4d |
T |
C |
19: 11,526,004 (GRCm39) |
|
probably null |
Het |
| Net1 |
C |
T |
13: 3,943,379 (GRCm39) |
A3T |
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,303,908 (GRCm39) |
M206V |
probably benign |
Het |
| Or5an1b |
T |
A |
19: 12,299,505 (GRCm39) |
I229F |
probably damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,832,433 (GRCm39) |
I205V |
probably benign |
Het |
| Pigo |
A |
G |
4: 43,019,645 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
A |
T |
15: 79,173,893 (GRCm39) |
S590T |
possibly damaging |
Het |
| Pwp2 |
T |
C |
10: 78,013,605 (GRCm39) |
T539A |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,473,079 (GRCm39) |
T688A |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,990,279 (GRCm39) |
T676A |
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,738,499 (GRCm39) |
|
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,272,778 (GRCm39) |
H653R |
probably damaging |
Het |
| Stk3 |
T |
A |
15: 35,114,706 (GRCm39) |
K67* |
probably null |
Het |
| Tctn2 |
A |
ACC |
5: 124,762,400 (GRCm39) |
|
probably benign |
Homo |
| Ttn |
T |
C |
2: 76,540,395 (GRCm39) |
Y34197C |
probably damaging |
Het |
| Ufc1 |
A |
C |
1: 171,117,746 (GRCm39) |
L56R |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,394,202 (GRCm39) |
|
probably null |
Het |
| Vnn3 |
T |
A |
10: 23,727,483 (GRCm39) |
M1K |
probably null |
Het |
| Zfp653 |
C |
A |
9: 21,969,099 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or1j1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01523:Or1j1
|
APN |
2 |
36,702,415 (GRCm39) |
missense |
probably benign |
|
|
R0501:Or1j1
|
UTSW |
2 |
36,702,492 (GRCm39) |
nonsense |
probably null |
|
|
R0519:Or1j1
|
UTSW |
2 |
36,702,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0890:Or1j1
|
UTSW |
2 |
36,702,586 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1353:Or1j1
|
UTSW |
2 |
36,702,926 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1543:Or1j1
|
UTSW |
2 |
36,703,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3435:Or1j1
|
UTSW |
2 |
36,702,690 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4378:Or1j1
|
UTSW |
2 |
36,702,481 (GRCm39) |
missense |
probably benign |
|
|
R4585:Or1j1
|
UTSW |
2 |
36,702,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Or1j1
|
UTSW |
2 |
36,702,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Or1j1
|
UTSW |
2 |
36,702,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4714:Or1j1
|
UTSW |
2 |
36,703,047 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4720:Or1j1
|
UTSW |
2 |
36,702,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5659:Or1j1
|
UTSW |
2 |
36,702,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5681:Or1j1
|
UTSW |
2 |
36,702,693 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6750:Or1j1
|
UTSW |
2 |
36,702,954 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7003:Or1j1
|
UTSW |
2 |
36,703,047 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7353:Or1j1
|
UTSW |
2 |
36,702,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Or1j1
|
UTSW |
2 |
36,702,651 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8094:Or1j1
|
UTSW |
2 |
36,702,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Or1j1
|
UTSW |
2 |
36,703,038 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9189:Or1j1
|
UTSW |
2 |
36,702,214 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9577:Or1j1
|
UTSW |
2 |
36,702,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9622:Or1j1
|
UTSW |
2 |
36,702,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCAGGCTGTAAATGAAAGGG -3'
(R):5'- TGCACAGTCTCCTCCTAGAC -3'
Sequencing Primer
(F):5'- TCAACATGGGAGTGACTACTGTGTAC -3'
(R):5'- AGACCAGCTTTCCTTCTGTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation