Mutagenetix > Incidental Mutation

Incidental Mutation 'R4909:Or10j2'

379256

Institutional Source

Beutler Lab

Gene Symbol

Or10j2

Ensembl Gene

ENSMUSG00000049605

Gene Name

olfactory receptor family 10 subfamily J member 2

Synonyms

MOR267-8, Olfr418, Olfr1403, GA_x6K02T2P20D-20826777-20827719, Olfr418-ps1, MOR267-12P, GA_x6K02T2R7CC-581296-580364

MMRRC Submission

042511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R4909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173097714-173098704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173098546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 268 (D268V)

Ref Sequence

ENSEMBL: ENSMUSP00000150427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059754] [ENSMUST00000111224] [ENSMUST00000213420]

AlphaFold

A0A140T8J6

Predicted Effect

probably damaging
Transcript: ENSMUST00000059754
AA Change: D268V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052418
Gene: ENSMUSG00000049605
AA Change: D268V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.6e-55	PFAM
Pfam:7tm_1	41	289	5.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111224

SMART Domains

Protein: ENSMUSP00000106855
Gene: ENSMUSG00000079180

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PTX	20	219	1.93e-94	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000213420
AA Change: D268V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,865,089 (GRCm39)		noncoding transcript	Het
Aars1	G	A	8: 111,781,715 (GRCm39)	G929D	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Actn4	A	T	7: 28,598,082 (GRCm39)	L506Q	probably damaging	Het
Adam26a	A	T	8: 44,023,475 (GRCm39)	F5Y	probably benign	Het
Adamts5	G	A	16: 85,696,954 (GRCm39)	Q68*	probably null	Het
Adcy9	A	G	16: 4,116,618 (GRCm39)	I871T	probably benign	Het
Ak5	A	T	3: 152,361,514 (GRCm39)	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,342,483 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,555,805 (GRCm39)	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,564,989 (GRCm39)	D60G	possibly damaging	Het
Apold1	G	A	6: 134,960,558 (GRCm39)	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,152,846 (GRCm39)	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,474,666 (GRCm39)	I622S	probably damaging	Het
Bmper	G	T	9: 23,289,021 (GRCm39)	V339F	probably benign	Het
Btbd8	C	T	5: 107,655,176 (GRCm39)	Q992*	probably null	Het
C1ra	A	G	6: 124,499,293 (GRCm39)	D493G	probably damaging	Het
C3	C	T	17: 57,533,830 (GRCm39)		probably null	Het
Cabp4	T	A	19: 4,187,120 (GRCm39)	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,007,342 (GRCm39)	H453L	probably damaging	Het
Camk2g	A	G	14: 20,842,652 (GRCm39)	V32A	probably benign	Het
Ccdc175	G	A	12: 72,206,527 (GRCm39)	R240C	probably damaging	Het
Cdk13	C	T	13: 17,946,988 (GRCm39)	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,357,443 (GRCm39)	T24S	probably benign	Het
Clca3a1	T	G	3: 144,730,324 (GRCm39)	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058 (GRCm39)		probably benign	Het
Colgalt1	A	T	8: 72,073,277 (GRCm39)	I323F	possibly damaging	Het
Cpeb3	A	T	19: 37,152,059 (GRCm39)	S106T	probably damaging	Het
Cpeb3	T	C	19: 37,151,633 (GRCm39)	S248G	possibly damaging	Het
Ctcfl	C	T	2: 172,937,191 (GRCm39)	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,769,295 (GRCm39)	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,415,462 (GRCm39)	G605S	probably damaging	Het
Egflam	A	T	15: 7,249,110 (GRCm39)	F903I	probably damaging	Het
Eif5a	G	A	11: 69,808,311 (GRCm39)	A62V	possibly damaging	Het
Fam217a	A	G	13: 35,094,389 (GRCm39)	S609P	probably damaging	Het
Fhad1	T	A	4: 141,712,822 (GRCm39)	I206F	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fras1	T	A	5: 96,856,617 (GRCm39)	M2000K	probably benign	Het
Frmd5	C	T	2: 121,422,134 (GRCm39)		probably null	Het
Gle1	T	C	2: 29,826,092 (GRCm39)	L57P	probably benign	Het
Glrx3	C	A	7: 137,046,765 (GRCm39)	N52K	probably damaging	Het
Grin3b	A	G	10: 79,812,938 (GRCm39)	*1004W	probably null	Het
Hectd4	T	A	5: 121,401,954 (GRCm39)	F347L	probably benign	Het
Htra1	G	A	7: 130,586,802 (GRCm39)	V462I	probably benign	Het
Itga11	A	G	9: 62,662,581 (GRCm39)	Y518C	probably damaging	Het
Krtap15-1	T	C	16: 88,626,253 (GRCm39)	F88L	probably benign	Het
Ktn1	A	T	14: 47,943,917 (GRCm39)	R866W	probably damaging	Het
Lamb1	G	A	12: 31,338,280 (GRCm39)	R483H	probably damaging	Het
Megf6	C	T	4: 154,349,848 (GRCm39)	R983C	probably damaging	Het
Mybpc3	T	A	2: 90,965,157 (GRCm39)	D1075E	probably benign	Het
Myo7b	A	T	18: 32,097,489 (GRCm39)	N1792K	probably benign	Het
Nabp2	A	T	10: 128,237,556 (GRCm39)		probably benign	Het
Neil3	A	G	8: 54,091,928 (GRCm39)	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,230,897 (GRCm39)	I491F	possibly damaging	Het
Obscn	A	G	11: 58,952,291 (GRCm39)	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,088,318 (GRCm39)	S139P	probably damaging	Het
Oog2	T	C	4: 143,921,669 (GRCm39)	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,666,080 (GRCm39)	D70G	probably benign	Het
Or1ab2	A	G	8: 72,863,425 (GRCm39)	N5S	probably damaging	Het
Or56a42-ps1	C	A	7: 104,777,435 (GRCm39)	V70L	probably benign	Het
Or6c210	A	G	10: 129,496,589 (GRCm39)	I305V	probably benign	Het
Padi3	T	C	4: 140,522,937 (GRCm39)	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,506,246 (GRCm39)	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,911,971 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,776,195 (GRCm39)	T577P	possibly damaging	Het
Pirb	G	A	7: 3,722,361 (GRCm39)	Q161*	probably null	Het
Pnlip	A	G	19: 58,664,672 (GRCm39)	E204G	possibly damaging	Het
Pop7	G	T	5: 137,500,161 (GRCm39)	D57E	probably benign	Het
Ppfia4	A	T	1: 134,260,239 (GRCm39)	I8N	probably damaging	Het
Pprc1	A	G	19: 46,052,758 (GRCm39)	T759A	probably damaging	Het
Prom1	T	C	5: 44,202,894 (GRCm39)	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,842,863 (GRCm39)		probably null	Het
Prop1	A	T	11: 50,842,872 (GRCm39)	L105H	probably damaging	Het
Pwp2	A	T	10: 78,018,328 (GRCm39)	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,689,509 (GRCm39)	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,207,002 (GRCm39)		probably benign	Het
Rxfp1	A	G	3: 79,552,109 (GRCm39)	S731P	probably benign	Het
Scfd1	T	C	12: 51,437,195 (GRCm39)	V137A	probably benign	Het
Slc6a15	G	A	10: 103,240,275 (GRCm39)	D333N	probably damaging	Het
Sqor	T	C	2: 122,627,101 (GRCm39)	V74A	possibly damaging	Het
Stil	T	A	4: 114,881,422 (GRCm39)	Y655*	probably null	Het
Syt14	A	T	1: 192,581,167 (GRCm39)	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,825,661 (GRCm39)		probably null	Het
Tspyl5	A	T	15: 33,686,995 (GRCm39)	S317T	probably damaging	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,861,631 (GRCm39)	T620A	probably damaging	Het
Usp32	G	A	11: 84,946,598 (GRCm39)	Q269*	probably null	Het
Vsig10	T	A	5: 117,476,308 (GRCm39)	V254E	probably benign	Het
Wdr6	C	T	9: 108,450,187 (GRCm39)	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,238,714 (GRCm39)	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,403,221 (GRCm39)	D559G	probably benign	Het
Zfp934	T	C	13: 62,665,768 (GRCm39)	H291R	probably damaging	Het

Other mutations in Or10j2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Or10j2	APN	1	173,098,275 (GRCm39)	missense	probably damaging	1.00
IGL01418:Or10j2	APN	1	173,098,275 (GRCm39)	missense	probably damaging	1.00
IGL01930:Or10j2	APN	1	173,098,177 (GRCm39)	missense	probably benign
IGL01963:Or10j2	APN	1	173,097,919 (GRCm39)	missense	probably damaging	0.99
IGL02104:Or10j2	APN	1	173,098,603 (GRCm39)	missense	probably damaging	0.96
IGL02192:Or10j2	APN	1	173,098,417 (GRCm39)	missense	probably damaging	1.00
IGL02256:Or10j2	APN	1	173,098,194 (GRCm39)	missense	probably benign	0.04
IGL02340:Or10j2	APN	1	173,097,972 (GRCm39)	missense	probably benign	0.10
IGL02454:Or10j2	APN	1	173,098,507 (GRCm39)	missense	probably damaging	0.99
IGL02638:Or10j2	APN	1	173,097,898 (GRCm39)	missense	probably benign	0.07
FR4737:Or10j2	UTSW	1	173,098,197 (GRCm39)	frame shift	probably null
FR4976:Or10j2	UTSW	1	173,098,197 (GRCm39)	frame shift	probably null
R0552:Or10j2	UTSW	1	173,098,372 (GRCm39)	missense	probably benign	0.05
R0621:Or10j2	UTSW	1	173,098,242 (GRCm39)	missense	possibly damaging	0.48
R0735:Or10j2	UTSW	1	173,098,569 (GRCm39)	missense	probably benign	0.05
R1506:Or10j2	UTSW	1	173,098,336 (GRCm39)	missense	probably benign	0.04
R1670:Or10j2	UTSW	1	173,098,467 (GRCm39)	missense	probably damaging	1.00
R2111:Or10j2	UTSW	1	173,097,879 (GRCm39)	missense	probably benign
R2204:Or10j2	UTSW	1	173,097,703 (GRCm39)	splice site	probably null
R4475:Or10j2	UTSW	1	173,098,480 (GRCm39)	missense	probably damaging	0.99
R5457:Or10j2	UTSW	1	173,098,141 (GRCm39)	missense	probably benign	0.00
R6124:Or10j2	UTSW	1	173,097,846 (GRCm39)	missense	probably damaging	1.00
R6456:Or10j2	UTSW	1	173,098,105 (GRCm39)	missense	probably damaging	1.00
R7220:Or10j2	UTSW	1	173,097,811 (GRCm39)	missense	possibly damaging	0.56
R7240:Or10j2	UTSW	1	173,098,561 (GRCm39)	missense	probably benign	0.27
R7672:Or10j2	UTSW	1	173,098,440 (GRCm39)	missense	probably benign	0.18
R8073:Or10j2	UTSW	1	173,098,552 (GRCm39)	missense	probably benign	0.42
R8116:Or10j2	UTSW	1	173,098,047 (GRCm39)	missense	possibly damaging	0.88
R8982:Or10j2	UTSW	1	173,098,306 (GRCm39)	missense	probably damaging	1.00
R9038:Or10j2	UTSW	1	173,098,147 (GRCm39)	missense	possibly damaging	0.63
R9668:Or10j2	UTSW	1	173,098,183 (GRCm39)	missense	possibly damaging	0.94
RF032:Or10j2	UTSW	1	173,098,276 (GRCm39)	frame shift	probably null
RF036:Or10j2	UTSW	1	173,098,276 (GRCm39)	frame shift	probably null
RF040:Or10j2	UTSW	1	173,098,276 (GRCm39)	frame shift	probably null
X0019:Or10j2	UTSW	1	173,098,124 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCATCAGCTCACTGGTTATTGTG -3'
(R):5'- CTGTGATTAACTGAAACTGCAGG -3'

Sequencing Primer
(F):5'- ATCAGCTCACTGGTTATTGTGGTACC -3'
(R):5'- GTAAATAAAGGGAATCCACTGTACAC -3'

Posted On

2016-04-15