Mutagenetix > Incidental Mutation

Incidental Mutation 'R6615:Or2h2c'

523998

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

044738-MU

Accession Numbers

Essential gene?

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

Stock #

R6615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37421934-37422872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37422494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 127 (P127S)

Ref Sequence

ENSEMBL: ENSMUSP00000150988 (fasta)

Gene Model

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

AlphaFold

L7N475

Predicted Effect

probably damaging
Transcript: ENSMUST00000168659
AA Change: P127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128393
Gene: ENSMUSG00000096477
AA Change: P127S

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

noncoding transcript
Transcript: ENSMUST00000174626

Predicted Effect

probably damaging
Transcript: ENSMUST00000214994
AA Change: P127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216341
AA Change: P127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Avl9	T	C	6: 56,730,870 (GRCm39)	V598A	probably benign	Het
Bcar3	T	A	3: 122,220,282 (GRCm39)	S60T	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Homo
Calm3	A	G	7: 16,651,508 (GRCm39)		probably null	Het
Ccdc113	A	C	8: 96,272,620 (GRCm39)	E242D	probably benign	Het
Celsr1	C	T	15: 85,786,315 (GRCm39)		probably null	Het
Clhc1	T	A	11: 29,528,149 (GRCm39)	M559K	possibly damaging	Het
Dhx36	T	A	3: 62,396,338 (GRCm39)	I440L	probably benign	Het
Dnah7c	A	T	1: 46,554,599 (GRCm39)	T445S	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dsc2	T	A	18: 20,165,576 (GRCm39)	H843L	possibly damaging	Het
F11	T	C	8: 45,701,811 (GRCm39)	Y333C	probably benign	Het
Fbxo41	T	C	6: 85,455,505 (GRCm39)	T560A	possibly damaging	Het
Fbxo7	A	T	10: 85,880,398 (GRCm39)	H282L	possibly damaging	Het
Gmnc	T	G	16: 26,779,278 (GRCm39)	D243A	probably benign	Het
Hdac5	C	A	11: 102,087,882 (GRCm39)		probably null	Het
Krt87	A	G	15: 101,334,443 (GRCm39)	V188A	probably benign	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrk1	A	T	7: 65,931,396 (GRCm39)	L55Q	probably damaging	Het
Ltbp2	C	T	12: 84,860,091 (GRCm39)	C621Y	probably damaging	Het
Marchf8	A	G	6: 116,382,624 (GRCm39)	E147G	probably damaging	Het
Muc16	T	G	9: 18,558,484 (GRCm39)	H2603P	unknown	Het
Nipa1	T	A	7: 55,629,571 (GRCm39)	N181Y	probably damaging	Het
Nt5el	T	A	13: 105,248,993 (GRCm39)	N402K	probably damaging	Het
Or14c45	A	G	7: 86,176,120 (GRCm39)	T52A	probably benign	Het
Or4k37	A	G	2: 111,159,457 (GRCm39)	D231G	probably benign	Het
Or51f23c-ps1	T	C	7: 102,430,994 (GRCm39)	F104L	probably damaging	Het
Or7g35	A	G	9: 19,496,285 (GRCm39)	I151V	probably benign	Het
Pcf11	T	A	7: 92,307,090 (GRCm39)	Q1026L	probably damaging	Het
Ptch1	T	G	13: 63,687,644 (GRCm39)	K378T	possibly damaging	Het
Ptprm	C	T	17: 67,660,951 (GRCm39)		probably null	Het
Pxmp2	C	A	5: 110,425,573 (GRCm39)	W154L	possibly damaging	Het
Rdh7	T	G	10: 127,720,491 (GRCm39)	S294R	probably damaging	Het
Rexo1	C	T	10: 80,379,848 (GRCm39)	R994Q	possibly damaging	Het
Sacs	A	G	14: 61,446,383 (GRCm39)	T2810A	probably benign	Het
Serpina3c	A	T	12: 104,117,980 (GRCm39)	H119Q	possibly damaging	Het
Slc12a2	T	G	18: 58,031,200 (GRCm39)	I335R	probably damaging	Het
Slc25a13	C	T	6: 6,073,454 (GRCm39)	R468Q	probably damaging	Het
Slc5a6	C	T	5: 31,194,174 (GRCm39)	V628I	probably benign	Het
Srsf2	T	C	11: 116,743,905 (GRCm39)		probably null	Het
Sugp2	A	G	8: 70,695,420 (GRCm39)	Q131R	possibly damaging	Het
Syne1	T	C	10: 5,251,340 (GRCm39)	R2525G	probably damaging	Het
Tars3	T	C	7: 65,327,890 (GRCm39)	F533S	probably damaging	Het
Tmem8b	G	T	4: 43,682,249 (GRCm39)	G82W	probably damaging	Het
Unc13c	A	G	9: 73,837,890 (GRCm39)	I987T	possibly damaging	Het
Usp44	T	C	10: 93,682,351 (GRCm39)	V267A	possibly damaging	Het
Wac	C	A	18: 7,868,884 (GRCm39)		probably null	Het
Xkr5	T	C	8: 18,983,569 (GRCm39)	I658V	probably benign	Het
Zbtb38	A	T	9: 96,568,707 (GRCm39)	Y792*	probably null	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
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
R9439:Or2h2c	UTSW	17	37,422,205 (GRCm39)	missense	probably damaging	1.00
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'- AAGATACTAGCAACAGCCATCTGG -3'
(R):5'- GCTTCACCACAACCTGTGTC -3'

Sequencing Primer
(F):5'- CAGCCATCTGGATCTCATTATAGGTG -3'
(R):5'- AACCTGTGTCCCCCAGATG -3'

Posted On

2018-06-22