Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Or14j2'

548482

Institutional Source

Beutler Lab

Gene Symbol

Or14j2

Ensembl Gene

ENSMUSG00000092292

Gene Name

olfactory receptor family 14 subfamily J member 2

Synonyms

Olfr113, GA_x6K02T2PSCP-2034880-2033942, MOR218-9

MMRRC Submission

045160-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37885374-37886312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37885634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 227 (R227W)

Ref Sequence

ENSEMBL: ENSMUSP00000149739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000216181]

AlphaFold

Q8VEU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000216181
AA Change: R227W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,984,746 (GRCm39)	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,260,278 (GRCm39)	P830S	possibly damaging	Het
Adrb1	T	C	19: 56,711,456 (GRCm39)	F218S	probably damaging	Het
Ahnak2	T	C	12: 112,746,919 (GRCm39)		probably benign	Het
Arsj	T	A	3: 126,231,986 (GRCm39)	V244E	probably damaging	Het
Atm	T	C	9: 53,419,181 (GRCm39)	E757G	probably benign	Het
AU040320	A	G	4: 126,685,865 (GRCm39)	D147G	probably benign	Het
Btnl10	A	T	11: 58,810,134 (GRCm39)	M92L	possibly damaging	Het
Chd6	T	C	2: 160,791,983 (GRCm39)	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Ctns	A	G	11: 73,077,218 (GRCm39)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,353,678 (GRCm39)		probably null	Het
Cyp2a4	A	T	7: 26,011,732 (GRCm39)	M318L	probably benign	Het
Dchs1	A	G	7: 105,412,392 (GRCm39)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm39)			Het
Dmbx1	T	C	4: 115,775,465 (GRCm39)	N272D	probably damaging	Het
Dsel	C	A	1: 111,790,577 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,804 (GRCm39)	D389A	possibly damaging	Het
Ero1a	T	C	14: 45,544,049 (GRCm39)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,839,557 (GRCm39)	E2229G	unknown	Het
Gabrd	C	T	4: 155,472,803 (GRCm39)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,277,172 (GRCm39)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,198,764 (GRCm39)	L793S	probably benign	Het
Irag1	C	G	7: 110,495,061 (GRCm39)	E455Q	probably damaging	Het
Itpr3	G	C	17: 27,308,269 (GRCm39)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,038,261 (GRCm39)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,430,954 (GRCm39)	Y185C	probably benign	Het
Lmo7	G	A	14: 102,121,615 (GRCm39)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,965,524 (GRCm39)	L1184*	probably null	Het
Or10s1	T	A	9: 39,986,109 (GRCm39)	Y173N	probably damaging	Het
Or4c15	T	A	2: 88,759,853 (GRCm39)	M269L	probably benign	Het
Parp9	T	G	16: 35,774,042 (GRCm39)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,466,446 (GRCm39)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 94,123,585 (GRCm39)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,608,317 (GRCm39)	T3040A	probably benign	Het
Qser1	T	C	2: 104,617,464 (GRCm39)	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580 (GRCm39)	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,990,148 (GRCm39)	K765*	probably null	Het
Rprd2	G	A	3: 95,672,328 (GRCm39)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,212,983 (GRCm39)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,318,977 (GRCm39)	D1554H	probably damaging	Het
Septin14	T	C	5: 129,774,870 (GRCm39)	I102V	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Siglec1	C	T	2: 130,925,834 (GRCm39)	G291R	probably benign	Het
Sik2	A	G	9: 50,818,720 (GRCm39)	V418A	probably damaging	Het
Slc9a5	A	G	8: 106,076,078 (GRCm39)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,863,955 (GRCm39)	S368P	probably benign	Het
Stip1	T	C	19: 7,012,925 (GRCm39)	D53G	probably benign	Het
Stk36	T	C	1: 74,649,979 (GRCm39)	W245R	probably damaging	Het
Stk39	A	T	2: 68,189,156 (GRCm39)		probably null	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tasor	C	T	14: 27,194,288 (GRCm39)	P1163S	probably benign	Het
Terb1	A	T	8: 105,215,186 (GRCm39)	N263K	probably benign	Het
Tgm5	T	C	2: 120,883,995 (GRCm39)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,642,767 (GRCm39)	M135V	probably benign	Het
Trmt13	T	A	3: 116,376,346 (GRCm39)	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,070,868 (GRCm39)	M534L	probably damaging	Het
Ttll13	G	A	7: 79,906,778 (GRCm39)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Washc3	T	C	10: 88,081,635 (GRCm39)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,047,049 (GRCm39)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,558,560 (GRCm39)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,667,573 (GRCm39)	I147N	probably benign	Het

Other mutations in Or14j2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Or14j2	APN	17	37,885,808 (GRCm39)	missense	probably damaging	0.98
IGL01061:Or14j2	APN	17	37,885,795 (GRCm39)	missense	possibly damaging	0.47
IGL01293:Or14j2	APN	17	37,886,308 (GRCm39)	missense	probably benign
IGL01370:Or14j2	APN	17	37,885,412 (GRCm39)	splice site	probably null
IGL01535:Or14j2	APN	17	37,885,679 (GRCm39)	missense	possibly damaging	0.90
IGL02134:Or14j2	APN	17	37,886,249 (GRCm39)	missense	probably benign	0.01
IGL02536:Or14j2	APN	17	37,885,817 (GRCm39)	missense	probably damaging	1.00
IGL02640:Or14j2	APN	17	37,885,912 (GRCm39)	missense	possibly damaging	0.73
IGL02652:Or14j2	APN	17	37,885,836 (GRCm39)	nonsense	probably null
IGL02963:Or14j2	APN	17	37,885,745 (GRCm39)	missense	probably benign	0.09
R0104:Or14j2	UTSW	17	37,885,817 (GRCm39)	missense	probably damaging	1.00
R1662:Or14j2	UTSW	17	37,886,164 (GRCm39)	missense	probably damaging	1.00
R2904:Or14j2	UTSW	17	37,885,705 (GRCm39)	missense	possibly damaging	0.95
R5129:Or14j2	UTSW	17	37,886,071 (GRCm39)	missense	probably damaging	1.00
R5197:Or14j2	UTSW	17	37,886,111 (GRCm39)	missense	probably benign	0.00
R5347:Or14j2	UTSW	17	37,885,618 (GRCm39)	missense	probably damaging	0.97
R6044:Or14j2	UTSW	17	37,885,426 (GRCm39)	missense	probably damaging	0.96
R7048:Or14j2	UTSW	17	37,886,114 (GRCm39)	missense	probably damaging	1.00
R8123:Or14j2	UTSW	17	37,885,653 (GRCm39)	missense	probably benign	0.05
R8205:Or14j2	UTSW	17	37,885,892 (GRCm39)	missense	probably damaging	1.00
R8710:Or14j2	UTSW	17	37,885,540 (GRCm39)	missense	probably benign	0.00
R8989:Or14j2	UTSW	17	37,885,542 (GRCm39)	missense	probably benign	0.01
R9323:Or14j2	UTSW	17	37,886,135 (GRCm39)	missense	probably damaging	1.00
R9439:Or14j2	UTSW	17	37,885,825 (GRCm39)	missense	probably benign	0.00
X0062:Or14j2	UTSW	17	37,885,388 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCAGTCAGTAGCAACAGGGC -3'
(R):5'- GTGGGGACAGAATAATCCACC -3'

Sequencing Primer
(F):5'- CAGGGCAAAATGATTCTAACCAGTG -3'
(R):5'- GTGGGGACAGAATAATCCACCAATTC -3'

Posted On

2019-05-13