Mutagenetix > Incidental Mutation

Incidental Mutation 'R8123:Or14j2'

631625

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

067552-MU

Accession Numbers

Essential gene?

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

Stock #

R8123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37885374-37886312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 37885653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 220 (H220Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149739 (fasta)

Gene Model

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

AlphaFold

Q8VEU4

Predicted Effect

probably benign
Transcript: ENSMUST00000216181
AA Change: H220Q

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.0%
20x: 97.1%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,805,272 (GRCm39)	V79F	probably damaging	Het
Acvr2a	T	C	2: 48,763,384 (GRCm39)	S143P	probably damaging	Het
Adam22	T	A	5: 8,142,833 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ankhd1	T	C	18: 36,708,136 (GRCm39)	F60S		Het
Cacna1s	A	T	1: 136,035,917 (GRCm39)	I1386F	probably damaging	Het
Cav2	T	A	6: 17,286,992 (GRCm39)	C145*	probably null	Het
Cc2d2a	A	T	5: 43,867,896 (GRCm39)	T847S	probably benign	Het
Ces2g	T	A	8: 105,693,555 (GRCm39)	M412K	probably benign	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,179,704 (GRCm39)	V746A	probably damaging	Het
Dnm3	A	G	1: 161,838,672 (GRCm39)	S230P	probably benign	Het
Dph3	T	C	14: 31,805,157 (GRCm39)	K77R	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fcgr4	A	G	1: 170,847,572 (GRCm39)	I57V	probably benign	Het
Fhad1	A	T	4: 141,712,836 (GRCm39)	I201K	probably benign	Het
Foxc2	C	T	8: 121,843,601 (GRCm39)	A83V	probably damaging	Het
Garnl3	T	C	2: 32,994,950 (GRCm39)	K20E	probably damaging	Het
Gtf2e1	A	T	16: 37,336,105 (GRCm39)	Y290N	possibly damaging	Het
Gtf3c1	A	G	7: 125,303,196 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,146,027 (GRCm39)	S743N	probably benign	Het
Lamp1	A	G	8: 13,217,158 (GRCm39)	I56V	probably benign	Het
Lipt2	A	G	7: 99,808,586 (GRCm39)	D33G	probably benign	Het
Mat2a	A	G	6: 72,411,321 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,064,135 (GRCm39)	E65G	probably benign	Het
Nedd4l	T	C	18: 65,207,845 (GRCm39)	L58P	probably damaging	Het
Ngly1	T	A	14: 16,260,799 (GRCm38)	M161K	probably benign	Het
Nod1	C	T	6: 54,914,391 (GRCm39)	G801R	probably damaging	Het
Npy1r	A	T	8: 67,157,619 (GRCm39)	I310F	probably damaging	Het
Or5k1b	T	A	16: 58,581,537 (GRCm39)	M1L	possibly damaging	Het
Pde3a	A	T	6: 141,411,917 (GRCm39)	Y497F	probably benign	Het
Pecr	A	T	1: 72,314,094 (GRCm39)	S153T	probably benign	Het
Pi4ka	A	G	16: 17,098,956 (GRCm39)	V1976A		Het
Plrg1	G	A	3: 82,973,237 (GRCm39)	A181T	probably benign	Het
Pou2f2	T	C	7: 24,796,433 (GRCm39)	K322R	possibly damaging	Het
Ppp1r17	T	A	6: 55,999,443 (GRCm39)	D25E	probably damaging	Het
Radil	A	C	5: 142,473,375 (GRCm39)	Y769D	probably damaging	Het
Ric8b	A	G	10: 84,805,737 (GRCm39)	N283D	probably damaging	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Traj39	G	A	14: 54,417,451 (GRCm39)	G11R		Het
Ugt2b36	G	A	5: 87,240,295 (GRCm39)	P30L	probably damaging	Het
Vipr1	C	A	9: 121,498,518 (GRCm39)	P423T	probably damaging	Het
Vps13a	T	C	19: 16,625,066 (GRCm39)	E2731G	probably benign	Het
Zfp451	A	T	1: 33,801,248 (GRCm39)	M1056K	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
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
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'- TCAGTCAGTAGCAACAGGGC -3'
(R):5'- CAGTGTCATTCCAGGAACCC -3'

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

Posted On

2020-06-30