Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00088:Or14j2'

306483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or14j2

Ensembl Gene

ENSMUSG00000092292

Gene Name

olfactory receptor family 14 subfamily J member 2

Synonyms

Olfr113, GA_x6K02T2PSCP-2034880-2033942, MOR218-9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

37885374-37886312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37885808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 169 (C169S)

Ref Sequence

ENSEMBL: ENSMUSP00000149739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174139] [ENSMUST00000216181]

AlphaFold

Q8VEU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000174139
AA Change: C169S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: C169S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.7e-46	PFAM
Pfam:7TM_GPCR_Srx	32	307	3.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	35	305	4.2e-6	PFAM
Pfam:7tm_1	41	290	2.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216181
AA Change: C169S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

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
Ankhd1	A	G	18: 36,798,512 (GRCm39)		probably benign	Het
Anpep	A	G	7: 79,475,484 (GRCm39)	V879A	possibly damaging	Het
Asb13	T	G	13: 3,693,476 (GRCm39)	V78G	probably null	Het
Atad2b	A	G	12: 5,074,593 (GRCm39)	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,269,399 (GRCm39)	G185C	probably damaging	Het
Catsperg2	A	G	7: 29,404,829 (GRCm39)	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,600,387 (GRCm39)	S52T	unknown	Het
Col4a2	G	T	8: 11,493,685 (GRCm39)	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,760,388 (GRCm39)	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,392,079 (GRCm39)	N125I	probably benign	Het
Cyp2t4	A	T	7: 26,854,723 (GRCm39)	M68L	probably benign	Het
Dclk2	T	A	3: 86,706,397 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,308,988 (GRCm39)	D1921G	probably benign	Het
Dnah10	G	A	5: 124,905,667 (GRCm39)	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,036,108 (GRCm39)	I273T	probably damaging	Het
Extl1	T	C	4: 134,085,330 (GRCm39)	K596E	probably damaging	Het
Fads3	A	T	19: 10,029,663 (GRCm39)	D108V	probably null	Het
Fam135b	A	G	15: 71,322,343 (GRCm39)	L1274P	probably damaging	Het
Fat1	T	A	8: 45,477,639 (GRCm39)	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,128,502 (GRCm39)	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,036,840 (GRCm39)		probably null	Het
Gpr137	A	C	19: 6,917,072 (GRCm39)	V139G	probably damaging	Het
Ikbke	A	G	1: 131,197,749 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,655,636 (GRCm39)	N285Y	probably benign	Het
Kcnu1	G	A	8: 26,387,884 (GRCm39)	C566Y	probably benign	Het
Klhl29	G	A	12: 5,190,705 (GRCm39)	P97S	probably benign	Het
Lama4	T	C	10: 38,941,591 (GRCm39)		probably benign	Het
Lhx6	G	A	2: 35,981,728 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,723,651 (GRCm39)	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Naa15	T	A	3: 51,345,826 (GRCm39)	V19D	probably damaging	Het
Ncbp3	A	T	11: 72,964,355 (GRCm39)		probably benign	Het
Nckipsd	G	A	9: 108,692,168 (GRCm39)	V530I	probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,503,224 (GRCm39)		probably benign	Het
Nup58	T	A	14: 60,480,026 (GRCm39)	I207L	probably benign	Het
Or5ae1	T	A	7: 84,565,578 (GRCm39)	M197K	probably damaging	Het
Or5k16	C	T	16: 58,736,213 (GRCm39)	E264K	probably benign	Het
Otud4	T	A	8: 80,399,510 (GRCm39)	N741K	probably damaging	Het
Pard6a	T	A	8: 106,429,833 (GRCm39)	C264S	probably benign	Het
Plch2	T	C	4: 155,091,099 (GRCm39)	N276S	probably damaging	Het
Pramel31	T	A	4: 144,089,100 (GRCm39)	H139Q	possibly damaging	Het
Pramel32	T	A	4: 88,547,307 (GRCm39)	K121N	probably benign	Het
Racgap1	T	C	15: 99,534,003 (GRCm39)		probably benign	Het
Rad51d	T	C	11: 82,780,572 (GRCm39)	D70G	probably damaging	Het
Recql4	C	T	15: 76,591,536 (GRCm39)	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,443,762 (GRCm39)	S149T	probably benign	Het
Rpl13a	C	A	7: 44,776,495 (GRCm39)		probably null	Het
Scn10a	T	C	9: 119,501,292 (GRCm39)	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,594,784 (GRCm39)	I1878V	probably benign	Het
Sgcg	T	A	14: 61,477,796 (GRCm39)	R98*	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r140	A	T	6: 40,468,274 (GRCm39)	I35F	probably benign	Het
Tex19.2	A	G	11: 121,007,638 (GRCm39)	F270S	possibly damaging	Het
Traip	C	T	9: 107,847,749 (GRCm39)	R391W	probably benign	Het
Trim7	A	G	11: 48,736,398 (GRCm39)	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,067,351 (GRCm39)	V8D	probably benign	Het
Tut7	T	C	13: 59,964,512 (GRCm39)	E221G	probably damaging	Het
Ubr3	A	C	2: 69,819,154 (GRCm39)	I9L	probably benign	Het
Usp42	A	G	5: 143,702,897 (GRCm39)	S575P	probably benign	Het
Vmn2r52	G	T	7: 9,903,023 (GRCm39)	H468Q	probably benign	Het
Vmn2r59	T	A	7: 41,661,488 (GRCm39)	T776S	possibly damaging	Het

Other mutations in Or14j2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7064:Or14j2	UTSW	17	37,885,634 (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

Posted On

2015-04-16