Mutagenetix > Incidental Mutation

Incidental Mutation 'R5243:Or1j15'

400965

Institutional Source

Beutler Lab

Gene Symbol

Or1j15

Ensembl Gene

ENSMUSG00000096822

Gene Name

olfactory receptor family 1 subfamily J member 15

Synonyms

MOR136-12, Olfr344, GA_x6K02T2NLDC-33262744-33263673

MMRRC Submission

042814-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R5243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36458612-36459541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36458655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 15 (L15P)

Ref Sequence

ENSEMBL: ENSMUSP00000151202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075474] [ENSMUST00000215879]

AlphaFold

Q8VFP9

Predicted Effect

probably damaging
Transcript: ENSMUST00000075474
AA Change: L15P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074919
Gene: ENSMUSG00000096822
AA Change: L15P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.7e-56	PFAM
Pfam:7tm_1	41	290	2.1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215879
AA Change: L15P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.3906

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (62/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,543 (GRCm39)		probably null	Het
Aatk	A	G	11: 119,907,594 (GRCm39)	L78P	probably damaging	Het
Acadsb	T	A	7: 131,045,972 (GRCm39)	I412K	probably damaging	Het
Acer3	T	C	7: 97,867,277 (GRCm39)	R246G	possibly damaging	Het
Atp1a3	T	A	7: 24,693,994 (GRCm39)	I387F	probably damaging	Het
Atp6v1b2	A	T	8: 69,556,391 (GRCm39)	M300L	probably benign	Het
Aurkb	T	A	11: 68,936,752 (GRCm39)		probably benign	Het
Card10	C	A	15: 78,664,872 (GRCm39)	G694V	possibly damaging	Het
Ccdc171	A	G	4: 83,522,344 (GRCm39)	N336S	probably damaging	Het
Copg2	T	C	6: 30,750,626 (GRCm39)	T720A	probably benign	Het
Coro2a	A	T	4: 46,545,620 (GRCm39)	W272R	probably damaging	Het
Cpne6	T	A	14: 55,750,204 (GRCm39)	C112S	probably damaging	Het
Ddx21	A	G	10: 62,437,992 (GRCm39)	M1T	probably null	Het
Dohh	A	G	10: 81,223,203 (GRCm39)	R161G	probably benign	Het
Dsc1	A	C	18: 20,232,216 (GRCm39)	V264G	probably damaging	Het
E4f1	A	T	17: 24,666,292 (GRCm39)	C198S	probably damaging	Het
Evpl	T	A	11: 116,113,795 (GRCm39)	E1298D	probably damaging	Het
Grid2ip	A	T	5: 143,363,260 (GRCm39)	I246F	probably damaging	Het
H2-M1	A	G	17: 36,982,193 (GRCm39)	F136S	possibly damaging	Het
Hck	T	C	2: 152,986,412 (GRCm39)	V387A	probably damaging	Het
Hdac1	G	A	4: 129,410,646 (GRCm39)		probably benign	Het
Hydin	A	C	8: 111,232,380 (GRCm39)	Q1633P	possibly damaging	Het
Igkv12-41	A	G	6: 69,835,686 (GRCm39)	I22T	probably damaging	Het
Ints3	CA	CAA	3: 90,308,451 (GRCm39)		probably null	Het
Itpr2	C	G	6: 146,089,044 (GRCm39)	W2188C	probably damaging	Het
Kcnt1	A	G	2: 25,798,086 (GRCm39)	E899G	probably damaging	Het
Lgals8	C	A	13: 12,469,645 (GRCm39)	V12L	probably benign	Het
Lgr6	T	C	1: 135,037,010 (GRCm39)		probably benign	Het
Lrrc8b	T	G	5: 105,628,812 (GRCm39)	I386S	probably damaging	Het
Mks1	T	C	11: 87,747,504 (GRCm39)		probably benign	Het
Mon1b	A	G	8: 114,364,553 (GRCm39)	D110G	possibly damaging	Het
Mpdz	G	T	4: 81,225,116 (GRCm39)	A1437E	probably damaging	Het
Nbeal1	T	A	1: 60,309,487 (GRCm39)	N1753K	probably damaging	Het
Nceh1	T	C	3: 27,295,837 (GRCm39)	V366A	probably damaging	Het
Ncor1	A	T	11: 62,229,788 (GRCm39)	D893E	probably damaging	Het
Npc1	T	A	18: 12,331,688 (GRCm39)		probably benign	Het
Or9i1b	A	G	19: 13,897,025 (GRCm39)	I214V	probably damaging	Het
Podxl2	T	C	6: 88,826,356 (GRCm39)	T317A	probably benign	Het
Prl8a9	T	G	13: 27,746,446 (GRCm39)	Q54P	probably damaging	Het
Prpf31	C	T	7: 3,641,753 (GRCm39)	R351*	probably null	Het
Pspc1	C	T	14: 57,001,648 (GRCm39)	G242D	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Rif1	T	A	2: 52,001,836 (GRCm39)	H1763Q	possibly damaging	Het
Rpusd3	T	C	6: 113,395,025 (GRCm39)	T85A	probably benign	Het
Rttn	A	G	18: 89,126,187 (GRCm39)	I1853M	possibly damaging	Het
Sacs	T	A	14: 61,443,406 (GRCm39)	C1817*	probably null	Het
Scrib	A	T	15: 75,937,101 (GRCm39)	V335E	probably benign	Het
Sdk2	A	G	11: 113,715,912 (GRCm39)	L1549P	possibly damaging	Het
Slc25a11	C	T	11: 70,536,924 (GRCm39)	G44S	probably damaging	Het
Slc6a3	A	G	13: 73,719,570 (GRCm39)	Y533C	possibly damaging	Het
Slc7a5	A	G	8: 122,623,274 (GRCm39)	V191A	probably damaging	Het
Son	A	G	16: 91,451,621 (GRCm39)	K123E	probably damaging	Het
Tcstv3	T	A	13: 120,779,125 (GRCm39)	M8K	probably benign	Het
Tie1	A	G	4: 118,339,548 (GRCm39)	V411A	probably damaging	Het
Upk3bl	C	A	5: 136,088,977 (GRCm39)	D1E	possibly damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Wnk2	T	A	13: 49,226,054 (GRCm39)	N1043I	possibly damaging	Het
Zfp407	A	T	18: 84,579,216 (GRCm39)	H632Q	probably damaging	Het
Zfp423	T	C	8: 88,500,275 (GRCm39)	K1174R	probably benign	Het

Other mutations in Or1j15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Or1j15	APN	2	36,458,838 (GRCm39)	missense	probably damaging	1.00
IGL01450:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01452:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01458:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01466:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01470:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01476:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01477:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01478:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01480:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01481:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01487:Or1j15	APN	2	36,458,754 (GRCm39)	missense	probably damaging	1.00
IGL01522:Or1j15	APN	2	36,459,233 (GRCm39)	missense	probably benign	0.00
IGL02141:Or1j15	APN	2	36,458,820 (GRCm39)	missense	probably damaging	1.00
IGL02510:Or1j15	APN	2	36,458,693 (GRCm39)	missense	possibly damaging	0.87
IGL02896:Or1j15	APN	2	36,459,217 (GRCm39)	missense	possibly damaging	0.88
IGL03032:Or1j15	APN	2	36,458,716 (GRCm39)	nonsense	probably null
R0081:Or1j15	UTSW	2	36,458,893 (GRCm39)	nonsense	probably null
R0581:Or1j15	UTSW	2	36,458,834 (GRCm39)	missense	probably damaging	1.00
R0611:Or1j15	UTSW	2	36,459,568 (GRCm39)	splice site	probably null
R1503:Or1j15	UTSW	2	36,458,885 (GRCm39)	missense	probably damaging	1.00
R1844:Or1j15	UTSW	2	36,458,789 (GRCm39)	missense	probably damaging	1.00
R2320:Or1j15	UTSW	2	36,458,637 (GRCm39)	missense	possibly damaging	0.90
R4088:Or1j15	UTSW	2	36,459,030 (GRCm39)	missense	probably damaging	1.00
R5747:Or1j15	UTSW	2	36,458,979 (GRCm39)	missense	probably damaging	0.98
R5948:Or1j15	UTSW	2	36,459,363 (GRCm39)	missense	probably damaging	1.00
R6115:Or1j15	UTSW	2	36,458,963 (GRCm39)	missense	probably damaging	1.00
R6158:Or1j15	UTSW	2	36,459,128 (GRCm39)	missense	probably benign	0.03
R6198:Or1j15	UTSW	2	36,458,963 (GRCm39)	missense	probably damaging	1.00
R6531:Or1j15	UTSW	2	36,459,353 (GRCm39)	missense	probably damaging	1.00
R7075:Or1j15	UTSW	2	36,459,192 (GRCm39)	missense	probably benign	0.01
R7193:Or1j15	UTSW	2	36,459,248 (GRCm39)	missense	probably benign	0.06
R7329:Or1j15	UTSW	2	36,458,708 (GRCm39)	missense	probably benign
R7659:Or1j15	UTSW	2	36,458,637 (GRCm39)	missense	possibly damaging	0.90
R8251:Or1j15	UTSW	2	36,459,467 (GRCm39)	missense	probably damaging	1.00
R8383:Or1j15	UTSW	2	36,459,014 (GRCm39)	missense	probably benign	0.08
R8507:Or1j15	UTSW	2	36,459,443 (GRCm39)	missense	probably damaging	0.98
R8698:Or1j15	UTSW	2	36,458,915 (GRCm39)	missense	possibly damaging	0.78
R8837:Or1j15	UTSW	2	36,458,703 (GRCm39)	missense	probably benign	0.35
R9087:Or1j15	UTSW	2	36,459,345 (GRCm39)	missense	probably damaging	1.00
R9149:Or1j15	UTSW	2	36,458,988 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GCTCATTACCATGACAAAAGTCTTC -3'
(R):5'- CACCAGCATCTTTGGAACTGTG -3'

Sequencing Primer
(F):5'- GTCTTCATATTTGGATGAAAACACCC -3'
(R):5'- CAGCATCTTTGGAACTGTGACTGATG -3'

Posted On

2016-07-06