Mutagenetix > Incidental Mutation

Incidental Mutation 'R6044:Or14j2'

483737

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

044212-MU

Accession Numbers

Essential gene?

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

Stock #

R6044 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37885374-37886312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37885426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 296 (T296M)

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: T296M

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: T296M

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: T296M

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Adamts20	A	T	15: 94,180,364 (GRCm39)	Y1764N	probably damaging	Het
Adamtsl1	A	T	4: 86,130,928 (GRCm39)	D223V	probably damaging	Het
Agbl1	T	C	7: 75,967,868 (GRCm39)	V31A	possibly damaging	Het
Alk	T	C	17: 72,299,095 (GRCm39)	H462R	probably benign	Het
Amt	A	T	9: 108,174,450 (GRCm39)	T72S	probably damaging	Het
Atp12a	T	A	14: 56,613,612 (GRCm39)	D461E	probably damaging	Het
Bcan	C	A	3: 87,902,950 (GRCm39)	C276F	probably damaging	Het
Crispld2	T	C	8: 120,737,410 (GRCm39)	S54P	possibly damaging	Het
Cyp11a1	A	T	9: 57,933,987 (GRCm39)	N478I	probably damaging	Het
Des	A	T	1: 75,340,113 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,473,774 (GRCm39)	I427F	probably benign	Het
Eml4	T	G	17: 83,753,379 (GRCm39)	L281R	probably damaging	Het
Fam186a	T	C	15: 99,839,878 (GRCm39)	Y2122C	probably damaging	Het
Fndc11	T	A	2: 180,863,459 (GRCm39)	L88Q	probably damaging	Het
Foxo1	A	G	3: 52,253,258 (GRCm39)	M474V	probably benign	Het
Gap43	A	T	16: 42,112,550 (GRCm39)	D70E	probably benign	Het
Gemin4	T	C	11: 76,103,760 (GRCm39)	M334V	probably benign	Het
Gm973	T	C	1: 59,667,393 (GRCm39)	L718P	probably benign	Het
Gprin3	G	T	6: 59,330,657 (GRCm39)	T550N	possibly damaging	Het
Hddc3	T	A	7: 79,993,332 (GRCm39)	V53E	probably benign	Het
Itpr2	A	T	6: 146,298,449 (GRCm39)	D12E	probably null	Het
Klri2	T	A	6: 129,717,247 (GRCm39)	E45D	probably damaging	Het
Lct	A	G	1: 128,235,717 (GRCm39)	V430A	possibly damaging	Het
Mcm8	T	C	2: 132,673,600 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,350,050 (GRCm39)	T184A	possibly damaging	Het
Morc3	T	C	16: 93,663,330 (GRCm39)	V511A	probably benign	Het
Mta2	T	C	19: 8,925,695 (GRCm39)	Y397H	probably damaging	Het
Naa50	G	A	16: 43,979,890 (GRCm39)	E93K	possibly damaging	Het
Or2t26	T	C	11: 49,039,522 (GRCm39)	V146A	probably benign	Het
Or4a77	T	A	2: 89,487,516 (GRCm39)	I90F	probably damaging	Het
Or4c126	T	C	2: 89,823,761 (GRCm39)	I8T	possibly damaging	Het
Or4k40	T	C	2: 111,250,423 (GRCm39)	N291S	probably damaging	Het
Padi4	A	G	4: 140,475,438 (GRCm39)	S576P	possibly damaging	Het
Poglut2	A	T	1: 44,153,611 (GRCm39)	L221*	probably null	Het
Prss47	A	T	13: 65,197,120 (GRCm39)	Y111*	probably null	Het
Ptprm	A	G	17: 67,000,857 (GRCm39)	V1100A	probably damaging	Het
Rab11fip3	G	A	17: 26,286,843 (GRCm39)	P437S	possibly damaging	Het
Rsph14	C	T	10: 74,867,102 (GRCm39)	D15N	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco1a1	A	G	6: 141,885,743 (GRCm39)	V94A	probably benign	Het
Smpdl3a	A	G	10: 57,687,358 (GRCm39)	E362G	possibly damaging	Het
Sva	A	T	6: 42,017,034 (GRCm39)	Y47F	probably benign	Het
Tatdn3	A	G	1: 190,788,558 (GRCm39)		probably null	Het
Tlcd4	A	T	3: 121,001,018 (GRCm39)	I205K	probably damaging	Het
Tlcd5	A	G	9: 43,024,903 (GRCm39)	S18P	probably benign	Het
Tmem131	G	A	1: 36,920,422 (GRCm39)	Q93*	probably null	Het
Trpm7	T	C	2: 126,656,665 (GRCm39)	E1184G	probably damaging	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Usp40	A	T	1: 87,917,872 (GRCm39)	I325K	probably benign	Het
Vmn2r27	T	G	6: 124,208,731 (GRCm39)	I5L	probably benign	Het
Wee1	C	T	7: 109,738,513 (GRCm39)	T542I	probably benign	Het
Wrn	G	A	8: 33,726,457 (GRCm39)	P1129S	probably damaging	Het
Zfyve16	G	A	13: 92,659,174 (GRCm39)	Q246*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGGATCCATTAGGGTGTAAATAGTG -3'
(R):5'- AGGATGCCCTCTGCTGAAAG -3'

Sequencing Primer
(F):5'- CCATTAGGGTGTAAATAGTGGATTTC -3'
(R):5'- CTGAAAGCAGGTCTAAGGTCTTCTC -3'

Posted On

2017-07-14