Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02103:Or14j1'

279822

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or14j1

Ensembl Gene

ENSMUSG00000050613

Gene Name

olfactory receptor family 14 subfamily J member 1

Synonyms

Olfr125, MOR218-8, GA_x6K02T2PSCP-2291580-2292542

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02103

Quality Score

Status

Chromosome

Chromosomal Location

38145802-38146919 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38146169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 93 (Q93R)

Ref Sequence

ENSEMBL: ENSMUSP00000149602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050255] [ENSMUST00000213857]

AlphaFold

Q14AJ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050255
AA Change: Q93R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055221
Gene: ENSMUSG00000050613
AA Change: Q93R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.7e-47	PFAM
Pfam:7tm_1	38	318	7.6e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213857
AA Change: Q93R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,659,138 (GRCm39)	T206M	probably benign	Het
Adcy3	T	A	12: 4,184,390 (GRCm39)	V22D	possibly damaging	Het
Alb	G	A	5: 90,611,990 (GRCm39)	E140K	probably benign	Het
Aph1a	G	A	3: 95,803,125 (GRCm39)	V193I	probably damaging	Het
Asb2	G	A	12: 103,299,755 (GRCm39)	R178*	probably null	Het
Celf3	A	T	3: 94,394,108 (GRCm39)	Q137L	probably damaging	Het
Cmya5	T	C	13: 93,228,635 (GRCm39)	D2151G	probably benign	Het
Cuedc1	T	A	11: 88,079,625 (GRCm39)	S353T	probably damaging	Het
Dlg5	A	C	14: 24,194,414 (GRCm39)	L1709R	probably damaging	Het
Dst	T	C	1: 34,229,199 (GRCm39)	I1939T	possibly damaging	Het
Emx2	A	T	19: 59,450,130 (GRCm39)	N149I	probably benign	Het
Fancm	A	G	12: 65,142,558 (GRCm39)	D472G	probably benign	Het
Fasn	T	C	11: 120,702,762 (GRCm39)	Y1700C	probably damaging	Het
Fat2	T	A	11: 55,180,122 (GRCm39)	R1406S	probably damaging	Het
Fat4	C	A	3: 38,943,348 (GRCm39)	T747K	probably damaging	Het
Fer	A	G	17: 64,445,923 (GRCm39)	M795V	probably benign	Het
Gm5916	A	G	9: 36,039,970 (GRCm39)	L6P	probably damaging	Het
Gpr139	A	G	7: 118,744,355 (GRCm39)	F77L	possibly damaging	Het
Kcnu1	T	C	8: 26,395,976 (GRCm39)	S654P	possibly damaging	Het
Kdm5c	T	A	X: 151,031,762 (GRCm39)	F408L	probably damaging	Het
Kel	A	G	6: 41,679,323 (GRCm39)	S147P	probably benign	Het
Klra5	A	T	6: 129,888,307 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,030,010 (GRCm39)	S239P	probably benign	Het
Med18	A	T	4: 132,186,977 (GRCm39)	V174D	probably damaging	Het
Mgat4a	A	T	1: 37,502,007 (GRCm39)	M247K	possibly damaging	Het
Mx2	A	C	16: 97,345,795 (GRCm39)	D71A	probably damaging	Het
Nxt1	G	T	2: 148,517,564 (GRCm39)	E102*	probably null	Het
Or3a1	A	G	11: 74,225,862 (GRCm39)	F65S	probably damaging	Het
Or7g16	T	C	9: 18,727,005 (GRCm39)	N195S	probably damaging	Het
Pcdhb16	T	A	18: 37,613,161 (GRCm39)	V707E	probably benign	Het
Pdzrn4	T	A	15: 92,667,768 (GRCm39)	V640E	probably damaging	Het
Piwil4	T	C	9: 14,637,282 (GRCm39)		probably null	Het
Pla2g4a	A	T	1: 149,776,950 (GRCm39)	D55E	probably damaging	Het
Plekhg2	C	A	7: 28,059,501 (GRCm39)	R1276L	probably damaging	Het
Psd4	G	A	2: 24,290,540 (GRCm39)	W539*	probably null	Het
Rae1	G	A	2: 172,845,306 (GRCm39)	E33K	probably damaging	Het
Rbm12b1	T	A	4: 12,145,563 (GRCm39)	F512I	probably damaging	Het
Rfx6	A	G	10: 51,602,952 (GRCm39)	D823G	possibly damaging	Het
Samt3	A	T	X: 85,090,759 (GRCm39)	Q217L	probably damaging	Het
Selenbp2	A	G	3: 94,605,438 (GRCm39)	N134S	probably null	Het
Selenoo	T	C	15: 88,984,173 (GRCm39)	V663A	probably damaging	Het
Sp4	G	T	12: 118,263,284 (GRCm39)	T254N	probably damaging	Het
Spdya	A	G	17: 71,885,242 (GRCm39)	K232R	probably benign	Het
Stom	A	T	2: 35,210,401 (GRCm39)	V201E	probably benign	Het
Sycp3	A	G	10: 88,302,334 (GRCm39)	K108R	possibly damaging	Het
Usp2	A	G	9: 44,000,425 (GRCm39)		probably benign	Het
Vmn1r226	T	C	17: 20,907,926 (GRCm39)	S53P	probably damaging	Het
Vmn2r14	C	T	5: 109,372,349 (GRCm39)	G47D	probably damaging	Het
Vwf	T	G	6: 125,623,318 (GRCm39)	L1805W	probably damaging	Het
Washc3	A	T	10: 88,037,687 (GRCm39)	Q22L	probably damaging	Het
Wdr81	T	A	11: 75,335,546 (GRCm39)	D1761V	probably damaging	Het

Other mutations in Or14j1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Or14j1	APN	17	38,145,944 (GRCm39)	missense	probably benign
IGL02121:Or14j1	APN	17	38,146,832 (GRCm39)	missense	probably benign	0.01
IGL02183:Or14j1	APN	17	38,146,304 (GRCm39)	missense	probably damaging	1.00
IGL02208:Or14j1	APN	17	38,146,415 (GRCm39)	missense	probably damaging	1.00
IGL02822:Or14j1	APN	17	38,146,534 (GRCm39)	missense	possibly damaging	0.95
IGL02833:Or14j1	APN	17	38,146,831 (GRCm39)	missense	probably benign	0.02
IGL03324:Or14j1	APN	17	38,146,165 (GRCm39)	missense	probably benign	0.23
R1689:Or14j1	UTSW	17	38,146,495 (GRCm39)	missense	possibly damaging	0.88
R1719:Or14j1	UTSW	17	38,146,244 (GRCm39)	missense	possibly damaging	0.76
R1878:Or14j1	UTSW	17	38,146,253 (GRCm39)	missense	probably benign	0.03
R2064:Or14j1	UTSW	17	38,145,893 (GRCm39)	start codon destroyed	probably null	0.06
R2696:Or14j1	UTSW	17	38,145,998 (GRCm39)	missense	probably benign	0.00
R3800:Or14j1	UTSW	17	38,146,848 (GRCm39)	missense	probably benign
R4469:Or14j1	UTSW	17	38,146,607 (GRCm39)	missense	probably benign	0.35
R4801:Or14j1	UTSW	17	38,146,240 (GRCm39)	missense	probably damaging	1.00
R4802:Or14j1	UTSW	17	38,146,240 (GRCm39)	missense	probably damaging	1.00
R5473:Or14j1	UTSW	17	38,146,630 (GRCm39)	missense	probably benign	0.04
R6743:Or14j1	UTSW	17	38,146,694 (GRCm39)	missense	probably damaging	1.00
R7481:Or14j1	UTSW	17	38,146,289 (GRCm39)	missense	probably damaging	1.00
R8349:Or14j1	UTSW	17	38,146,561 (GRCm39)	missense	probably damaging	0.99
R8449:Or14j1	UTSW	17	38,146,561 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16