Mutagenetix > Incidental Mutation

Incidental Mutation 'R9439:Or2h2c'

713461

Institutional Source

Beutler Lab

Gene Symbol

Or2h2c

Ensembl Gene

ENSMUSG00000096477

Gene Name

olfactory receptor family 2 subfamily H member 2C

Synonyms

MOR256-29, Olfr92, GA_x6K02T2PSCP-1552066-1551128

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37421934-37422872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37422205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 223 (V223A)

Ref Sequence

ENSEMBL: ENSMUSP00000150998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168659] [ENSMUST00000214994] [ENSMUST00000216341]

AlphaFold

L7N475

Predicted Effect

probably damaging
Transcript: ENSMUST00000168659
AA Change: V223A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128393
Gene: ENSMUSG00000096477
AA Change: V223A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	23	304	5.1e-7	PFAM
Pfam:7tm_4	29	306	3.4e-50	PFAM
Pfam:7tm_1	39	288	1.1e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214994
AA Change: V223A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216341
AA Change: V223A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,048 (GRCm39)	E412D	probably benign	Het
Aak1	T	A	6: 86,933,274 (GRCm39)	V415D	probably damaging	Het
Ache	A	C	5: 137,289,185 (GRCm39)	D297A	probably damaging	Het
Armc9	T	C	1: 86,084,687 (GRCm39)	I4T	possibly damaging	Het
Atp8b2	T	A	3: 89,851,492 (GRCm39)	Y925F		Het
Avpr1b	T	C	1: 131,528,029 (GRCm39)	L184P	probably damaging	Het
Cabin1	G	A	10: 75,581,069 (GRCm39)	P419L	probably damaging	Het
Ccdc88c	T	C	12: 100,884,597 (GRCm39)	S1578G	probably benign	Het
Ccnd2	A	T	6: 127,127,617 (GRCm39)	C40*	probably null	Het
Col6a3	A	T	1: 90,744,155 (GRCm39)	I471N	probably damaging	Het
Cp	A	G	3: 20,046,671 (GRCm39)		probably null	Het
Cyfip2	C	T	11: 46,091,668 (GRCm39)	R1084Q	probably damaging	Het
Diaph1	A	G	18: 38,029,412 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,012,330 (GRCm39)	N3713S	possibly damaging	Het
Dot1l	G	T	10: 80,621,438 (GRCm39)	R633L	possibly damaging	Het
Ehmt1	A	T	2: 24,715,030 (GRCm39)	M809K	probably damaging	Het
Fcgbp	C	A	7: 27,803,436 (GRCm39)	A1680E	possibly damaging	Het
Flt1	A	G	5: 147,515,207 (GRCm39)	F1072L	probably damaging	Het
Gm19410	G	T	8: 36,248,810 (GRCm39)	A549S	probably damaging	Het
Gm57859	C	T	11: 113,583,229 (GRCm39)	Q519*	probably null	Het
Gnat1	A	T	9: 107,553,511 (GRCm39)	I249N		Het
Gp2	T	C	7: 119,053,433 (GRCm39)	Y176C	probably damaging	Het
Gpc2	G	T	5: 138,277,248 (GRCm39)	Q60K	probably benign	Het
Gpsm2	T	A	3: 108,610,397 (GRCm39)	E21V	probably damaging	Het
Igkv4-80	T	A	6: 68,993,793 (GRCm39)	M33L	probably benign	Het
Il20ra	C	A	10: 19,618,751 (GRCm39)	H66Q	probably benign	Het
Kap	C	T	6: 133,828,950 (GRCm39)	D61N	probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mpp7	A	T	18: 7,461,692 (GRCm39)	Y60*	probably null	Het
Neil1	T	A	9: 57,051,098 (GRCm39)	R294*	probably null	Het
Nkx6-3	A	G	8: 23,643,778 (GRCm39)	S60G	probably benign	Het
Noc2l	T	A	4: 156,326,130 (GRCm39)	S406T	possibly damaging	Het
Or11m3	T	C	15: 98,396,247 (GRCm39)	V298A	possibly damaging	Het
Or14j2	A	G	17: 37,885,825 (GRCm39)	I163T	probably benign	Het
Or2t46	T	C	11: 58,472,104 (GRCm39)	C145R	probably benign	Het
Or51ac3	T	G	7: 103,214,049 (GRCm39)	I146L	probably benign	Het
Or5p81	T	C	7: 108,266,626 (GRCm39)	M1T	probably null	Het
Paqr4	A	G	17: 23,958,939 (GRCm39)	F21L	probably damaging	Het
Pcdha9	A	G	18: 37,131,527 (GRCm39)	T199A	probably benign	Het
Pcdhgb7	T	C	18: 37,884,917 (GRCm39)	L29P	probably benign	Het
Pfkl	G	A	10: 77,831,172 (GRCm39)	A323V	probably damaging	Het
Pik3r4	C	A	9: 105,528,041 (GRCm39)	P465T	probably damaging	Het
Pitpnm2	A	G	5: 124,274,189 (GRCm39)	S307P	probably damaging	Het
Pitpnm2	A	G	5: 124,278,659 (GRCm39)	Y191H	probably damaging	Het
Plod3	G	A	5: 137,023,036 (GRCm39)	V613I	probably benign	Het
Prr23a2	C	T	9: 98,738,921 (GRCm39)	T93I	probably damaging	Het
Ptk6	T	A	2: 180,840,206 (GRCm39)	M267L	possibly damaging	Het
Rabl6	C	T	2: 25,492,432 (GRCm39)		probably null	Het
Ralgapa2	T	C	2: 146,254,058 (GRCm39)	H787R	probably benign	Het
Rfx8	T	G	1: 39,724,669 (GRCm39)	M231L	probably benign	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Smpd4	A	G	16: 17,459,451 (GRCm39)	I625V	probably benign	Het
Tcf7l1	A	G	6: 72,765,740 (GRCm39)	S66P	probably damaging	Het
Tsc22d1	G	A	14: 76,743,899 (GRCm39)	V1007M	probably damaging	Het
Tspoap1	C	T	11: 87,665,535 (GRCm39)	R758C	probably damaging	Het
Vmn1r210	A	C	13: 23,011,397 (GRCm39)	H296Q	possibly damaging	Het
Zfp532	G	A	18: 65,818,714 (GRCm39)	V857I	probably benign	Het
Zfyve9	T	C	4: 108,501,538 (GRCm39)	T593A	probably benign	Het

Other mutations in Or2h2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Or2h2c	APN	17	37,422,701 (GRCm39)	missense	probably damaging	1.00
IGL02850:Or2h2c	APN	17	37,422,865 (GRCm39)	missense	probably benign	0.35
IGL03209:Or2h2c	APN	17	37,422,413 (GRCm39)	missense	probably benign	0.04
R0579:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0580:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0582:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0615:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0669:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0674:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R0675:Or2h2c	UTSW	17	37,422,347 (GRCm39)	missense	probably benign	0.00
R2424:Or2h2c	UTSW	17	37,422,408 (GRCm39)	missense	probably benign	0.02
R3714:Or2h2c	UTSW	17	37,422,227 (GRCm39)	missense	probably damaging	1.00
R4393:Or2h2c	UTSW	17	37,424,971 (GRCm39)	intron	probably benign
R5811:Or2h2c	UTSW	17	37,422,649 (GRCm39)	missense	probably benign	0.00
R6615:Or2h2c	UTSW	17	37,422,494 (GRCm39)	missense	probably damaging	1.00
R6853:Or2h2c	UTSW	17	37,422,400 (GRCm39)	missense	probably benign	0.02
R6876:Or2h2c	UTSW	17	37,422,098 (GRCm39)	missense	probably damaging	1.00
R7665:Or2h2c	UTSW	17	37,422,283 (GRCm39)	missense	probably benign	0.20
R8087:Or2h2c	UTSW	17	37,422,440 (GRCm39)	missense	probably benign
R9224:Or2h2c	UTSW	17	37,422,767 (GRCm39)	missense	possibly damaging	0.53
R9541:Or2h2c	UTSW	17	37,422,824 (GRCm39)	missense	probably benign	0.00
R9559:Or2h2c	UTSW	17	37,422,509 (GRCm39)	missense	possibly damaging	0.84
Z1177:Or2h2c	UTSW	17	37,422,322 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGCAGCTTCCAGAATGCTC -3'
(R):5'- TTGTTCCCACAGGCAGATAGAC -3'

Sequencing Primer
(F):5'- CCTTGTTCCTCAGGGTGTATACAAG -3'
(R):5'- CAGGCAGATAGACAACTTTCTGTGTG -3'

Posted On

2022-05-16