Mutagenetix > Incidental Mutation

Incidental Mutation 'R9529:Or6c68'

719403

Institutional Source

Beutler Lab

Gene Symbol

Or6c68

Ensembl Gene

ENSMUSG00000049573

Gene Name

olfactory receptor family 6 subfamily C member 68

Synonyms

GA_x6K02T2PULF-11002360-11003298, MOR114-12, Olfr780

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R9529 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129157494-129158432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129158205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 238 (T238A)

Ref Sequence

ENSEMBL: ENSMUSP00000149258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063168] [ENSMUST00000215503]

AlphaFold

Q8VEU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000063168
AA Change: T238A

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

SMART Domains

Protein: ENSMUSP00000054927
Gene: ENSMUSG00000049573
AA Change: T238A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	1.4e-45	PFAM
Pfam:7tm_1	39	288	9.6e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215503
AA Change: T238A

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

Meta Mutation Damage Score

0.4819

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	C	5: 113,331,682 (GRCm39)	L844R	possibly damaging	Het
Aadacl4fm2	A	G	4: 144,282,082 (GRCm39)	Y237H	probably benign	Het
Abca8a	A	T	11: 109,947,167 (GRCm39)	Y1036*	probably null	Het
Abcg3	T	C	5: 105,121,973 (GRCm39)	T135A	probably damaging	Het
Arhgef28	G	A	13: 98,213,773 (GRCm39)	A30V	probably damaging	Het
Cald1	T	A	6: 34,662,947 (GRCm39)	D3E	probably damaging	Het
Ccdc89	T	A	7: 90,076,573 (GRCm39)	L261Q	probably damaging	Het
Ceacam1	T	C	7: 25,171,231 (GRCm39)	D411G	possibly damaging	Het
Chil4	T	A	3: 106,118,656 (GRCm39)	N87Y	probably damaging	Het
Ciita	T	A	16: 10,328,640 (GRCm39)	L308Q	probably benign	Het
Clptm1	T	C	7: 19,371,600 (GRCm39)	I278V	probably benign	Het
Col5a3	A	T	9: 20,685,308 (GRCm39)		probably null	Het
Ddost	T	A	4: 138,038,780 (GRCm39)	D336E	probably benign	Het
Dnah7a	T	C	1: 53,561,495 (GRCm39)	Y2054C	probably damaging	Het
Erc2	T	A	14: 28,197,723 (GRCm39)	L1000H	unknown	Het
Fhip2b	T	C	14: 70,822,579 (GRCm39)	E714G	probably damaging	Het
Gdpd4	T	C	7: 97,610,793 (GRCm39)	V71A	possibly damaging	Het
Hmcn1	A	G	1: 150,545,175 (GRCm39)	Y2811H	probably damaging	Het
Hmox2	C	T	16: 4,582,818 (GRCm39)	Q184*	probably null	Het
Igkv9-124	G	T	6: 67,919,280 (GRCm39)	T44N	probably benign	Het
Kmt2d	G	A	15: 98,737,649 (GRCm39)	T5149I	unknown	Het
Lamb2	T	A	9: 108,363,477 (GRCm39)	D885E	probably benign	Het
Macf1	A	G	4: 123,407,680 (GRCm39)	S220P	probably damaging	Het
Muc2	A	T	7: 141,287,453 (GRCm39)	T211S	possibly damaging	Het
Mup13	A	T	4: 61,184,117 (GRCm39)	C15S	possibly damaging	Het
Myh3	T	C	11: 66,979,556 (GRCm39)		probably null	Het
Nek10	A	G	14: 14,850,833 (GRCm38)	I293V	probably benign	Het
Or10d3	G	A	9: 39,461,723 (GRCm39)	T148I	probably benign	Het
Or2a52	T	A	6: 43,144,432 (GRCm39)	S147T	possibly damaging	Het
Pdss2	G	A	10: 43,269,990 (GRCm39)	V278I	probably benign	Het
Prex1	T	C	2: 166,431,518 (GRCm39)	K748R	probably damaging	Het
Ptprb	A	G	10: 116,174,519 (GRCm39)		probably null	Het
Ranbp17	G	A	11: 33,424,826 (GRCm39)	S510L	unknown	Het
Rp1	T	A	1: 4,416,447 (GRCm39)	H1555L	probably benign	Het
Rsph6a	A	G	7: 18,799,535 (GRCm39)	K389E	probably benign	Het
Ryk	T	C	9: 102,746,518 (GRCm39)	V151A	probably benign	Het
Ryr3	T	A	2: 112,465,660 (GRCm39)	N4838I	possibly damaging	Het
Sbno1	G	A	5: 124,517,413 (GRCm39)	R1233*	probably null	Het
Scn2a	A	T	2: 65,594,932 (GRCm39)	K1927M	probably damaging	Het
Sec22c	A	T	9: 121,513,860 (GRCm39)	I259N	probably damaging	Het
Slc6a15	A	T	10: 103,240,583 (GRCm39)	D402V	probably benign	Het
Stk38	G	A	17: 29,207,210 (GRCm39)	T111I	probably damaging	Het
Tmem237	G	A	1: 59,147,215 (GRCm39)	T306I	probably damaging	Het
Tmprss11a	T	C	5: 86,576,501 (GRCm39)	K117E	probably benign	Het
Tmprss9	A	T	10: 80,730,640 (GRCm39)	D722V	probably damaging	Het
Trpc1	T	C	9: 95,592,250 (GRCm39)	Y575C	probably damaging	Het
Ube2d2b	A	G	5: 107,978,438 (GRCm39)	M30V	probably benign	Het
Usp36	A	T	11: 118,159,461 (GRCm39)	L661*	probably null	Het
Vmn2r13	G	T	5: 109,304,064 (GRCm39)	T789N	probably damaging	Het
Vmn2r5	T	C	3: 64,400,018 (GRCm39)	T550A	probably benign	Het
Xirp2	T	C	2: 67,355,540 (GRCm39)	S3434P	possibly damaging	Het
Zfp106	A	G	2: 120,351,007 (GRCm39)	V1571A	probably damaging	Het
Zfp438	A	G	18: 5,213,501 (GRCm39)	S486P	possibly damaging	Het
Zfp616	A	G	11: 73,975,660 (GRCm39)	H643R	probably damaging	Het
Zfp616	A	G	11: 73,976,596 (GRCm39)	K955R	possibly damaging	Het

Other mutations in Or6c68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01867:Or6c68	APN	10	129,157,585 (GRCm39)	missense	probably benign	0.00
IGL02817:Or6c68	APN	10	129,157,764 (GRCm39)	missense	probably benign	0.01
IGL03121:Or6c68	APN	10	129,158,037 (GRCm39)	missense	probably benign	0.11
IGL03396:Or6c68	APN	10	129,157,916 (GRCm39)	missense	probably benign	0.01
R0586:Or6c68	UTSW	10	129,157,916 (GRCm39)	missense	probably benign	0.01
R0601:Or6c68	UTSW	10	129,157,885 (GRCm39)	missense	possibly damaging	0.52
R1957:Or6c68	UTSW	10	129,157,740 (GRCm39)	missense	possibly damaging	0.95
R3915:Or6c68	UTSW	10	129,158,178 (GRCm39)	missense	probably benign	0.14
R4419:Or6c68	UTSW	10	129,157,684 (GRCm39)	missense	possibly damaging	0.95
R5383:Or6c68	UTSW	10	129,158,205 (GRCm39)	missense	probably damaging	1.00
R6030:Or6c68	UTSW	10	129,158,238 (GRCm39)	missense	probably benign	0.02
R6030:Or6c68	UTSW	10	129,158,238 (GRCm39)	missense	probably benign	0.02
R6762:Or6c68	UTSW	10	129,158,125 (GRCm39)	missense	probably damaging	0.97
R7259:Or6c68	UTSW	10	129,157,663 (GRCm39)	missense	probably benign	0.13
R7575:Or6c68	UTSW	10	129,157,728 (GRCm39)	missense	probably damaging	1.00
R7904:Or6c68	UTSW	10	129,157,665 (GRCm39)	missense	probably damaging	1.00
R8933:Or6c68	UTSW	10	129,158,259 (GRCm39)	missense	probably damaging	0.98
R9130:Or6c68	UTSW	10	129,157,897 (GRCm39)	missense	probably benign	0.00
Z1176:Or6c68	UTSW	10	129,158,088 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GGTTTCACCTGGAATTCTGTGAC -3'
(R):5'- GAAGCTTGTTTAACTTGCTTGTTCC -3'

Sequencing Primer
(F):5'- GGATGTGATGCAAACCCTATTTTG -3'
(R):5'- TGTTTAACTTGCTTGTTCCTTAGAG -3'

Posted On

2022-07-18