Mutagenetix > Incidental Mutation

Incidental Mutation 'R5151:Or13j1'

395346

Institutional Source

Beutler Lab

Gene Symbol

Or13j1

Ensembl Gene

ENSMUSG00000046450

Gene Name

olfactory receptor family 13 subfamily J member 1

Synonyms

MOR262-4, Olfr71, mOR17, GA_x6K02T2N78B-16230286-16231224

MMRRC Submission

042733-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5151 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43705628-43706566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43706518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 17 (F17I)

Ref Sequence

ENSEMBL: ENSMUSP00000149725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055401] [ENSMUST00000107862] [ENSMUST00000217544]

AlphaFold

Q9QZ18

Predicted Effect

probably damaging
Transcript: ENSMUST00000055401
AA Change: F17I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: F17I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.4e-34	PFAM
Pfam:7tm_4	139	283	4.5e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107862
AA Change: F17I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: F17I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	2.2e-52	PFAM
Pfam:7tm_1	41	290	7.5e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217544
AA Change: F17I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	A	15: 101,108,651 (GRCm39)	C476S	probably damaging	Het
Agpat2	A	G	2: 26,487,218 (GRCm39)	M120T	probably damaging	Het
Ahnak	A	G	19: 8,994,933 (GRCm39)	T5406A	probably benign	Het
Ano4	A	G	10: 88,948,775 (GRCm39)	F112L	probably damaging	Het
Arhgef11	T	A	3: 87,642,667 (GRCm39)	V1371D	probably damaging	Het
Ascc3	A	G	10: 50,514,059 (GRCm39)	N286S	probably damaging	Het
Ate1	T	C	7: 130,109,394 (GRCm39)	K202E	possibly damaging	Het
Cacna1d	T	C	14: 29,845,280 (GRCm39)	T630A	probably damaging	Het
Ccdc187	G	T	2: 26,183,451 (GRCm39)	T183N	probably damaging	Het
Cdk12	C	T	11: 98,140,749 (GRCm39)		probably benign	Het
Ciita	A	G	16: 10,341,594 (GRCm39)	N978S	probably damaging	Het
Cit	A	T	5: 116,117,894 (GRCm39)	Q1268L	probably damaging	Het
Csf2rb	C	T	15: 78,224,781 (GRCm39)	R180W	probably damaging	Het
Dnah17	T	C	11: 117,918,293 (GRCm39)	I4079V	probably damaging	Het
Dnah7a	A	G	1: 53,659,929 (GRCm39)	V693A	probably benign	Het
Dnah8	T	A	17: 30,931,269 (GRCm39)	V1428E	probably benign	Het
Dnhd1	C	A	7: 105,362,647 (GRCm39)	Q3777K	probably benign	Het
Dock9	A	G	14: 121,815,582 (GRCm39)	Y1666H	probably damaging	Het
Dpysl3	C	T	18: 43,571,145 (GRCm39)	G43D	probably benign	Het
Eftud2	A	G	11: 102,758,670 (GRCm39)		probably null	Het
Erich4	T	C	7: 25,315,292 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,250,259 (GRCm39)	D99V	possibly damaging	Het
Fat1	T	C	8: 45,404,851 (GRCm39)	V534A	possibly damaging	Het
Fgf21	G	C	7: 45,263,456 (GRCm39)	S207R	probably damaging	Het
Fras1	C	T	5: 96,792,969 (GRCm39)	P967S	probably damaging	Het
H2-T23	T	C	17: 36,343,230 (GRCm39)	D49G	probably damaging	Het
Hmcn2	A	G	2: 31,279,455 (GRCm39)	N1819S	probably null	Het
Hoxc12	A	G	15: 102,846,881 (GRCm39)	I258V	probably damaging	Het
Ighv1-22	T	A	12: 114,709,928 (GRCm39)	T106S	probably damaging	Het
Inpp5j	T	C	11: 3,452,270 (GRCm39)	T327A	probably damaging	Het
Iqgap3	G	T	3: 88,025,067 (GRCm39)	M689I	possibly damaging	Het
Itga7	G	A	10: 128,780,380 (GRCm39)	G559S	possibly damaging	Het
Kcnq1	G	T	7: 142,979,749 (GRCm39)	V632L	probably benign	Het
Lsamp	T	C	16: 41,954,792 (GRCm39)	V230A	probably damaging	Het
Mfn2	A	T	4: 147,970,785 (GRCm39)	S305T	probably benign	Het
Myom3	A	G	4: 135,516,883 (GRCm39)	T818A	probably benign	Het
Nacc2	G	A	2: 25,980,365 (GRCm39)	R24C	probably damaging	Het
Ntrk3	A	C	7: 77,897,048 (GRCm39)	I663R	probably damaging	Het
Nyap1	A	G	5: 137,734,376 (GRCm39)	V219A	probably damaging	Het
Obox3	A	T	7: 15,360,173 (GRCm39)	N165K	probably damaging	Het
Or13a1	T	A	6: 116,470,765 (GRCm39)	L65*	probably null	Het
Or2y12	A	G	11: 49,426,242 (GRCm39)	T77A	possibly damaging	Het
Or52e2	C	A	7: 102,804,593 (GRCm39)	M120I	probably damaging	Het
Or55b4	G	A	7: 102,134,192 (GRCm39)	T45I	probably benign	Het
Pask	A	T	1: 93,262,350 (GRCm39)	L170H	probably damaging	Het
Piezo2	A	T	18: 63,163,480 (GRCm39)	I2146N	possibly damaging	Het
Pitpnm2	A	T	5: 124,274,449 (GRCm39)	M220K	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,705 (GRCm39)	D841G	probably benign	Het
Pla2g3	C	T	11: 3,440,827 (GRCm39)	T264M	probably benign	Het
Plcb1	A	T	2: 135,104,165 (GRCm39)	Y278F	probably benign	Het
Prkdc	T	C	16: 15,533,899 (GRCm39)	L1579P	probably damaging	Het
Rad51ap2	T	A	12: 11,507,516 (GRCm39)	N479K	probably benign	Het
Rasgrf2	T	C	13: 92,044,155 (GRCm39)	H966R	probably damaging	Het
Rbm27	A	G	18: 42,471,509 (GRCm39)	D996G	probably damaging	Het
Rif1	A	C	2: 52,010,321 (GRCm39)	K2337T	probably damaging	Het
Rpl13a	G	T	7: 44,775,385 (GRCm39)	N442K	probably benign	Het
Serpini2	T	A	3: 75,153,820 (GRCm39)	T380S	possibly damaging	Het
Setbp1	A	T	18: 78,901,214 (GRCm39)	W818R	probably damaging	Het
Siae	T	A	9: 37,542,869 (GRCm39)	C185S	probably benign	Het
Slc15a2	A	G	16: 36,572,659 (GRCm39)	V674A	probably damaging	Het
Slc40a1	A	T	1: 45,950,516 (GRCm39)	M312K	possibly damaging	Het
Slc46a3	A	G	5: 147,823,566 (GRCm39)	L92S	probably damaging	Het
Son	T	C	16: 91,452,587 (GRCm39)	S445P	probably damaging	Het
Syne2	T	C	12: 76,090,484 (GRCm39)	F351L	probably benign	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tmem248	T	A	5: 130,269,238 (GRCm39)	L277H	probably damaging	Het
Unc13c	T	A	9: 73,838,757 (GRCm39)	H698L	probably benign	Het
Ushbp1	A	G	8: 71,847,799 (GRCm39)	V24A	possibly damaging	Het
Usp24	G	T	4: 106,256,309 (GRCm39)		probably null	Het
Vmn2r50	T	G	7: 9,786,970 (GRCm39)	I46L	probably benign	Het
Zfp106	T	C	2: 120,365,208 (GRCm39)	T423A	probably benign	Het
Zfp663	T	A	2: 165,195,113 (GRCm39)	T369S	probably benign	Het
Zmynd11	T	C	13: 9,740,953 (GRCm39)	T382A	probably damaging	Het

Other mutations in Or13j1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02317:Or13j1	APN	4	43,706,172 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Or13j1	UTSW	4	43,706,464 (GRCm39)	missense	probably damaging	1.00
R0597:Or13j1	UTSW	4	43,706,592 (GRCm39)	splice site	probably null
R0610:Or13j1	UTSW	4	43,706,400 (GRCm39)	missense	possibly damaging	0.69
R1588:Or13j1	UTSW	4	43,705,923 (GRCm39)	missense	probably damaging	0.98
R1619:Or13j1	UTSW	4	43,706,292 (GRCm39)	missense	probably damaging	1.00
R1779:Or13j1	UTSW	4	43,706,041 (GRCm39)	missense	probably damaging	1.00
R2871:Or13j1	UTSW	4	43,706,458 (GRCm39)	missense	probably benign	0.30
R2871:Or13j1	UTSW	4	43,706,458 (GRCm39)	missense	probably benign	0.30
R4723:Or13j1	UTSW	4	43,705,785 (GRCm39)	missense	probably damaging	1.00
R4891:Or13j1	UTSW	4	43,706,194 (GRCm39)	missense	probably damaging	0.99
R5049:Or13j1	UTSW	4	43,706,259 (GRCm39)	missense	probably damaging	1.00
R5491:Or13j1	UTSW	4	43,705,990 (GRCm39)	missense	probably damaging	1.00
R5521:Or13j1	UTSW	4	43,705,788 (GRCm39)	missense	possibly damaging	0.88
R6225:Or13j1	UTSW	4	43,705,698 (GRCm39)	missense	probably damaging	1.00
R6518:Or13j1	UTSW	4	43,706,334 (GRCm39)	missense	probably benign	0.05
R6883:Or13j1	UTSW	4	43,705,723 (GRCm39)	missense	possibly damaging	0.93
R7185:Or13j1	UTSW	4	43,706,082 (GRCm39)	missense	possibly damaging	0.82
R7339:Or13j1	UTSW	4	43,706,080 (GRCm39)	missense	probably benign	0.05
R7502:Or13j1	UTSW	4	43,706,316 (GRCm39)	missense	probably damaging	0.97
R8052:Or13j1	UTSW	4	43,705,884 (GRCm39)	missense	probably damaging	0.97
R8797:Or13j1	UTSW	4	43,706,455 (GRCm39)	missense	probably damaging	1.00
R9701:Or13j1	UTSW	4	43,705,793 (GRCm39)	missense	probably benign	0.00
X0017:Or13j1	UTSW	4	43,705,990 (GRCm39)	missense	probably damaging	1.00
X0021:Or13j1	UTSW	4	43,706,326 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAAGGAGATGGTCTTCCGGG -3'
(R):5'- ACACGGATGAACTGAAGCC -3'

Sequencing Primer
(F):5'- TGGACCAGCATCAGGGGTAC -3'
(R):5'- CTACAGAGGGTGAGGAGTCTGTC -3'

Posted On

2016-06-21