Mutagenetix > Incidental Mutation

Incidental Mutation 'R4384:Or1j13'

326096

Institutional Source

Beutler Lab

Gene Symbol

Or1j13

Ensembl Gene

ENSMUSG00000075387

Gene Name

olfactory receptor family 1 subfamily J member 13

Synonyms

MOR136-2, GA_x6K02T2NLDC-33174915-33173974, Olfr341

MMRRC Submission

042002-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36369199-36370140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36370010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 44 (L44P)

Ref Sequence

ENSEMBL: ENSMUSP00000150801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100154] [ENSMUST00000213300]

AlphaFold

Q8VGK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000100154
AA Change: L44P

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

SMART Domains

Protein: ENSMUSP00000097731
Gene: ENSMUSG00000075387
AA Change: L44P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.6e-59	PFAM
Pfam:7TM_GPCR_Srsx	35	305	4e-6	PFAM
Pfam:7tm_1	41	290	9.1e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213300
AA Change: L44P

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

Meta Mutation Damage Score

0.7192

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,805 (GRCm39)	V27E	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Brip1	A	T	11: 86,039,255 (GRCm39)	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,987 (GRCm39)	Q654L	probably benign	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,896,274 (GRCm39)	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Ddias	G	A	7: 92,507,431 (GRCm39)	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Dscam	T	A	16: 96,510,416 (GRCm39)	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,569,141 (GRCm39)		probably benign	Het
E2f8	G	A	7: 48,516,847 (GRCm39)	T844I	possibly damaging	Het
Eps8	T	A	6: 137,476,590 (GRCm39)	H603L	probably benign	Het
Esrrg	G	A	1: 187,775,908 (GRCm39)	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,599,374 (GRCm39)	R467*	probably null	Het
Gad2	G	A	2: 22,575,422 (GRCm39)	V509I	probably benign	Het
Gpat4	A	G	8: 23,664,602 (GRCm39)	I446T	probably benign	Het
Klhl12	T	G	1: 134,415,392 (GRCm39)	D435E	probably damaging	Het
Luc7l	T	C	17: 26,498,936 (GRCm39)		probably benign	Het
Marchf2	C	A	17: 33,915,167 (GRCm39)	M142I	probably benign	Het
Marf1	T	A	16: 13,960,505 (GRCm39)	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,532,344 (GRCm39)	D114G	possibly damaging	Het
Med1	G	A	11: 98,043,688 (GRCm39)		probably benign	Het
Meikin	C	T	11: 54,308,613 (GRCm39)	Q404*	probably null	Het
Myh9	A	T	15: 77,675,912 (GRCm39)		probably benign	Het
Mylip	T	C	13: 45,543,434 (GRCm39)	M1T	probably null	Het
Ncapg2	T	C	12: 116,403,497 (GRCm39)		probably null	Het
Nmd3	T	C	3: 69,631,731 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,914 (GRCm39)	L1166H	probably damaging	Het
Or8b48	T	C	9: 38,493,349 (GRCm39)	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,677,272 (GRCm39)	I71T	probably damaging	Het
Rwdd3	T	C	3: 120,952,406 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,620,119 (GRCm39)	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,446,116 (GRCm39)	Q273R	probably benign	Het
Sdha	A	T	13: 74,475,104 (GRCm39)	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,856,919 (GRCm39)	L771P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,224,688 (GRCm39)	E624G	possibly damaging	Het
Tada3	G	T	6: 113,347,340 (GRCm39)	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Trpc1	C	A	9: 95,614,161 (GRCm39)	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,482,427 (GRCm39)	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,753,559 (GRCm39)	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,246,546 (GRCm39)	S80P	probably benign	Het
Usp54	A	T	14: 20,600,153 (GRCm39)		probably null	Het
Vmn2r27	A	G	6: 124,201,115 (GRCm39)	Y281H	probably benign	Het
Vwf	T	A	6: 125,632,079 (GRCm39)	I37N	unknown	Het
Zfp329	G	A	7: 12,545,584 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,005 (GRCm39)	L91F	possibly damaging	Het

Other mutations in Or1j13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Or1j13	APN	2	36,369,368 (GRCm39)	missense	probably damaging	1.00
IGL01469:Or1j13	APN	2	36,369,836 (GRCm39)	missense	probably benign	0.44
IGL02269:Or1j13	APN	2	36,369,579 (GRCm39)	missense	possibly damaging	0.86
IGL02870:Or1j13	APN	2	36,370,043 (GRCm39)	missense	probably benign
IGL03190:Or1j13	APN	2	36,369,734 (GRCm39)	missense	probably damaging	1.00
R0988:Or1j13	UTSW	2	36,369,779 (GRCm39)	missense	probably damaging	1.00
R1214:Or1j13	UTSW	2	36,369,981 (GRCm39)	missense	possibly damaging	0.67
R1785:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R1786:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2130:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2131:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2132:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2133:Or1j13	UTSW	2	36,370,059 (GRCm39)	missense	possibly damaging	0.87
R2568:Or1j13	UTSW	2	36,369,986 (GRCm39)	missense	probably damaging	1.00
R4115:Or1j13	UTSW	2	36,369,797 (GRCm39)	missense	probably damaging	1.00
R4721:Or1j13	UTSW	2	36,369,836 (GRCm39)	missense	probably benign	0.44
R5375:Or1j13	UTSW	2	36,369,309 (GRCm39)	missense	probably damaging	0.98
R6035:Or1j13	UTSW	2	36,369,996 (GRCm39)	missense	probably damaging	1.00
R6035:Or1j13	UTSW	2	36,369,996 (GRCm39)	missense	probably damaging	1.00
R6084:Or1j13	UTSW	2	36,369,524 (GRCm39)	missense	probably benign	0.01
R6340:Or1j13	UTSW	2	36,370,032 (GRCm39)	missense	probably benign	0.31
R7238:Or1j13	UTSW	2	36,369,726 (GRCm39)	missense	possibly damaging	0.54
R7532:Or1j13	UTSW	2	36,370,138 (GRCm39)	start codon destroyed	probably null	0.27
R7830:Or1j13	UTSW	2	36,369,392 (GRCm39)	missense	probably damaging	1.00
R7910:Or1j13	UTSW	2	36,369,345 (GRCm39)	missense	probably damaging	0.98
R8737:Or1j13	UTSW	2	36,369,629 (GRCm39)	missense	probably benign	0.00
R8821:Or1j13	UTSW	2	36,369,794 (GRCm39)	missense	possibly damaging	0.94
R8831:Or1j13	UTSW	2	36,369,794 (GRCm39)	missense	possibly damaging	0.94
R8847:Or1j13	UTSW	2	36,369,483 (GRCm39)	nonsense	probably null
R9070:Or1j13	UTSW	2	36,369,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCATAGGCCATGGAGGTC -3'
(R):5'- GGCACCTTGATCTGGAAATGG -3'

Sequencing Primer
(F):5'- CCATGGAGGTCAGAAGAAAACTGTC -3'
(R):5'- ATCACAGCTCATTTTTGTCACAG -3'

Posted On

2015-07-06