Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01061:Or14j2'

52992

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: 0.083) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

37885374-37886312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37885795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 173 (I173T)

Ref Sequence

ENSEMBL: ENSMUSP00000149739 (fasta)

Gene Model

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

AlphaFold

Q8VEU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174139
AA Change: I173T

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: I173T

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

possibly damaging
Transcript: ENSMUST00000216181
AA Change: I173T

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,619,686 (GRCm39)	C186*	probably null	Het
Ankmy1	A	T	1: 92,798,696 (GRCm39)		probably benign	Het
B3gnt2	T	A	11: 22,786,042 (GRCm39)	E382V	probably damaging	Het
Carmil3	T	G	14: 55,736,087 (GRCm39)	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,497,693 (GRCm39)		probably benign	Het
Chek1	G	A	9: 36,625,815 (GRCm39)	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,320,680 (GRCm39)	I92L	probably benign	Het
Ddx56	C	T	11: 6,214,671 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,672,586 (GRCm39)	M887K	probably null	Het
Dnajc18	A	G	18: 35,813,995 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,596,653 (GRCm39)	V401A	probably damaging	Het
Dock4	A	C	12: 40,752,968 (GRCm39)	N434T	probably benign	Het
Dync2i1	C	A	12: 116,193,324 (GRCm39)	A543S	probably benign	Het
Ehbp1l1	A	T	19: 5,767,916 (GRCm39)	M1129K	probably benign	Het
Fam83a	A	T	15: 57,849,771 (GRCm39)	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 30,973,054 (GRCm39)	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,325,698 (GRCm39)	F414L	possibly damaging	Het
Kndc1	A	T	7: 139,502,610 (GRCm39)	E965D	probably benign	Het
Lrrc66	T	C	5: 73,772,842 (GRCm39)	K209E	probably benign	Het
Mcm3	A	T	1: 20,884,720 (GRCm39)	I261N	possibly damaging	Het
Mier3	T	A	13: 111,850,970 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,234,720 (GRCm39)	E669G	probably damaging	Het
Myh1	T	A	11: 67,108,688 (GRCm39)	M1368K	probably benign	Het
Nav1	A	G	1: 135,378,368 (GRCm39)	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,210,998 (GRCm39)	L363F	probably damaging	Het
Or52b1	A	G	7: 104,978,589 (GRCm39)	I270T	possibly damaging	Het
Or9i1	T	C	19: 13,840,069 (GRCm39)	V304A	possibly damaging	Het
Pkd1l3	A	G	8: 110,365,338 (GRCm39)	H1153R	probably damaging	Het
Poglut3	A	G	9: 53,299,887 (GRCm39)		probably benign	Het
Ppp6r2	A	T	15: 89,170,218 (GRCm39)		probably benign	Het
Prelid3b	T	C	2: 174,307,614 (GRCm39)		probably null	Het
Prrt3	T	C	6: 113,474,731 (GRCm39)	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,530,003 (GRCm39)	D60E	probably damaging	Het
Rab32	A	G	10: 10,433,618 (GRCm39)	L72P	probably damaging	Het
Samm50	A	G	15: 84,086,455 (GRCm39)	T225A	probably benign	Het
Snx27	T	A	3: 94,436,287 (GRCm39)		probably benign	Het
Taf7	G	A	18: 37,776,486 (GRCm39)	T27M	probably damaging	Het
Tgm5	A	T	2: 120,901,977 (GRCm39)	C231S	probably benign	Het
Tll1	A	G	8: 64,491,488 (GRCm39)		probably null	Het
Tmem150a	A	G	6: 72,334,101 (GRCm39)	D61G	probably damaging	Het
Ttll8	G	A	15: 88,801,453 (GRCm39)	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,813,569 (GRCm39)	D1293E	probably benign	Het
Utp20	T	C	10: 88,606,566 (GRCm39)	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,491,183 (GRCm39)	W355R	probably damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfhx2	T	A	14: 55,311,339 (GRCm39)	N452Y	possibly damaging	Het
Zfp180	T	G	7: 23,804,170 (GRCm39)	D196E	possibly damaging	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
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

2013-06-21