Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:Or13j1'

520853

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

044645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43705628-43706566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43706334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 78 (V78A)

Ref Sequence

ENSEMBL: ENSMUSP00000149725 (fasta)

Gene Model

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

AlphaFold

Q9QZ18

Predicted Effect

probably benign
Transcript: ENSMUST00000055401
AA Change: V78A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: V78A

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 benign
Transcript: ENSMUST00000107862
AA Change: V78A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: V78A

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 benign
Transcript: ENSMUST00000217544
AA Change: V78A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.1268

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,123,608 (GRCm39)	D88G	probably damaging	Het
Abcc12	A	G	8: 87,235,718 (GRCm39)			Het
Angptl6	T	C	9: 20,786,656 (GRCm39)	H330R	probably damaging	Het
Asxl3	T	A	18: 22,649,397 (GRCm39)	V462E	probably damaging	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
C1ra	T	A	6: 124,498,534 (GRCm39)		probably null	Het
C2	T	A	17: 35,083,094 (GRCm39)	I426F	probably damaging	Het
C4b	A	T	17: 34,953,179 (GRCm39)	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,898,283 (GRCm39)	M134K	probably benign	Het
Cenpn	A	G	8: 117,663,904 (GRCm39)	D145G	possibly damaging	Het
Ckap2	A	T	8: 22,663,319 (GRCm39)	I492K	probably benign	Het
Cog2	G	A	8: 125,253,842 (GRCm39)	W67*	probably null	Het
Col7a1	T	C	9: 108,784,595 (GRCm39)	F172L	unknown	Het
Dcaf1	T	C	9: 106,712,788 (GRCm39)	I112T	probably damaging	Het
Ddx4	T	C	13: 112,741,081 (GRCm39)	I518V	probably benign	Het
Dnah10	T	C	5: 124,835,419 (GRCm39)	L908P	probably damaging	Het
Dsg3	T	C	18: 20,666,479 (GRCm39)	Y563H	probably benign	Het
Gm16686	A	C	4: 88,673,725 (GRCm39)		probably benign	Het
Gpr139	A	T	7: 118,743,734 (GRCm39)	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Ice1	A	T	13: 70,754,428 (GRCm39)	F553I	possibly damaging	Het
Igkv6-29	T	A	6: 70,115,497 (GRCm39)	Q99L	probably damaging	Het
Lipt1	A	G	1: 37,914,856 (GRCm39)	N304S	probably benign	Het
Lmo1	A	C	7: 108,742,783 (GRCm39)	L39R	probably damaging	Het
Mcc	T	A	18: 44,794,878 (GRCm39)		probably benign	Het
Mindy3	T	C	2: 12,386,940 (GRCm39)	T74A	probably damaging	Het
Obi1	A	T	14: 104,716,501 (GRCm39)	L624H	probably damaging	Het
Or11a4	G	T	17: 37,536,159 (GRCm39)	A48S	probably benign	Het
Or4e5	T	C	14: 52,728,077 (GRCm39)	I115V	probably damaging	Het
Ormdl1	T	C	1: 53,348,116 (GRCm39)	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,127,475 (GRCm39)	*1064K	probably null	Het
Pias1	A	G	9: 62,859,142 (GRCm39)	L113P	probably damaging	Het
Piezo2	A	T	18: 63,239,342 (GRCm39)	I514N	probably damaging	Het
Prkd1	T	C	12: 50,472,278 (GRCm39)	T212A	probably benign	Het
Rsph10b	A	G	5: 143,900,691 (GRCm39)	Y151C	probably damaging	Het
Samhd1	G	A	2: 156,956,217 (GRCm39)	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,922,519 (GRCm39)	T291A	probably damaging	Het
Smim24	A	G	10: 81,229,695 (GRCm39)	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,572,291 (GRCm39)		probably benign	Het
Spata31f1e	A	G	4: 42,791,750 (GRCm39)	I794T	probably benign	Het
Speer3	T	G	5: 13,845,462 (GRCm39)	I165S	possibly damaging	Het
Timm23	A	G	14: 31,923,594 (GRCm39)		probably null	Het
Tmem17	A	T	11: 22,467,427 (GRCm39)	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,632,608 (GRCm39)	C85*	probably null	Het
Try5	A	G	6: 41,291,613 (GRCm39)	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,270,436 (GRCm39)	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,265,281 (GRCm39)	D67E	probably benign	Het
Wars2	A	T	3: 99,124,116 (GRCm39)	M326L	probably benign	Het
Wdr70	A	T	15: 8,108,821 (GRCm39)	S108R	unknown	Het
Zfp677	A	G	17: 21,618,392 (GRCm39)	H483R	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
R5151:Or13j1	UTSW	4	43,706,518 (GRCm39)	missense	probably damaging	0.99
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
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'- ACTTGAAGAGGCAGAGCACC -3'
(R):5'- TCTTGAAGGGATTTTCTGGCTACC -3'

Sequencing Primer
(F):5'- GCTCCTGCCAGCATCAG -3'
(R):5'- GCTACCCGGCCCTCGAG -3'

Posted On

2018-06-06