Mutagenetix > Incidental Mutation

Incidental Mutation 'R5383:Or6c68'

424855

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

042958-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.741) question?

Stock #

R5383 (G1)

Quality Score

225

Status

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,211,532 (GRCm39)	Y227F	possibly damaging	Het
Aadac	T	C	3: 59,943,496 (GRCm39)		probably benign	Het
Abl2	G	A	1: 156,469,802 (GRCm39)	G918E	possibly damaging	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Adck1	T	C	12: 88,422,373 (GRCm39)	V328A	probably benign	Het
Ano6	A	G	15: 95,813,918 (GRCm39)	I279V	probably benign	Het
AW551984	T	A	9: 39,501,994 (GRCm39)	Y704F	probably benign	Het
C1s1	T	C	6: 124,511,360 (GRCm39)	D321G	probably damaging	Het
Cacna1d	T	A	14: 29,767,236 (GRCm39)	D1910V	possibly damaging	Het
Cdh5	A	G	8: 104,864,479 (GRCm39)	Q480R	probably benign	Het
Cdhr1	C	T	14: 36,810,964 (GRCm39)	V266M	possibly damaging	Het
Cdk5rap1	A	T	2: 154,192,755 (GRCm39)	V414D	possibly damaging	Het
Ctdnep1	T	A	11: 69,875,222 (GRCm39)		probably benign	Het
Cyfip2	T	C	11: 46,168,918 (GRCm39)	M212V	possibly damaging	Het
D130043K22Rik	G	A	13: 25,041,397 (GRCm39)	S273N	probably benign	Het
Ddi2	A	G	4: 141,412,163 (GRCm39)	S250P	probably damaging	Het
Dennd1b	A	G	1: 139,095,409 (GRCm39)	T486A	probably benign	Het
Disc1	A	G	8: 125,862,196 (GRCm39)	T523A	probably damaging	Het
Dmbx1	A	G	4: 115,775,342 (GRCm39)	S313P	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnah11	T	C	12: 118,049,432 (GRCm39)	E1664G	probably damaging	Het
Dpysl3	A	T	18: 43,571,103 (GRCm39)	V57E	probably damaging	Het
Fam98a	C	T	17: 75,845,576 (GRCm39)	G390E	unknown	Het
Hook3	C	A	8: 26,609,017 (GRCm39)	R9L	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Impg2	A	G	16: 56,063,989 (GRCm39)	D298G	probably benign	Het
Inf2	T	A	12: 112,566,579 (GRCm39)	V48D	probably damaging	Het
Itprid1	T	A	6: 55,955,275 (GRCm39)	L961H	probably benign	Het
Kcnh1	G	A	1: 192,187,999 (GRCm39)	G820D	probably benign	Het
Lsm14a	C	T	7: 34,088,789 (GRCm39)	A39T	possibly damaging	Het
Muc2	T	C	7: 141,307,456 (GRCm39)	C804R	probably damaging	Het
Nim1k	C	T	13: 120,189,335 (GRCm39)	V25M	probably benign	Het
Or11g25	T	A	14: 50,723,509 (GRCm39)	L198*	probably null	Het
Or4a73	T	C	2: 89,421,457 (GRCm39)	M1V	probably null	Het
Or5b122	T	A	19: 13,563,439 (GRCm39)	M257K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf8-ps	T	C	17: 33,284,231 (GRCm39)	D857G	probably benign	Het
Pitrm1	T	A	13: 6,627,468 (GRCm39)	H856Q	probably damaging	Het
Pkd1	T	C	17: 24,793,349 (GRCm39)	C1679R	probably benign	Het
Pkp4	T	A	2: 59,140,617 (GRCm39)	L441*	probably null	Het
Ppp4r4	T	C	12: 103,550,427 (GRCm39)	F284L	probably benign	Het
Ptprt	T	A	2: 161,539,969 (GRCm39)	K769M	probably damaging	Het
Rbm12	G	T	2: 155,945,285 (GRCm39)		probably benign	Het
Rpf1	T	C	3: 146,225,146 (GRCm39)	D94G	possibly damaging	Het
Scap	G	T	9: 110,203,597 (GRCm39)	K310N	probably damaging	Het
Smpd2	C	T	10: 41,364,698 (GRCm39)		probably benign	Het
Sp110	TC	TCC	1: 85,519,290 (GRCm39)		probably null	Het
Specc1l	T	A	10: 75,082,539 (GRCm39)	I662N	possibly damaging	Het
Sptan1	T	A	2: 29,901,340 (GRCm39)	V1496D	probably damaging	Het
Srrm4	T	C	5: 116,609,319 (GRCm39)		probably benign	Het
Taf2	A	G	15: 54,912,815 (GRCm39)	I515T	possibly damaging	Het
Tdrd3	C	T	14: 87,718,227 (GRCm39)	Q203*	probably null	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Tmem43	G	A	6: 91,450,872 (GRCm39)	A2T	probably benign	Het
Trav9-1	T	A	14: 53,725,833 (GRCm39)	I49N	probably benign	Het
Trim23	T	G	13: 104,335,205 (GRCm39)	N410K	probably damaging	Het
Ttbk1	T	C	17: 46,778,342 (GRCm39)	T567A	probably damaging	Het
Unc79	A	G	12: 103,070,886 (GRCm39)	N1081S	possibly damaging	Het
Zfp451	A	C	1: 33,852,887 (GRCm39)	I9R	probably damaging	Het
Zfp563	T	A	17: 33,323,681 (GRCm39)	M92K	probably benign	Het
Zfp618	G	A	4: 63,013,729 (GRCm39)	G198D	probably benign	Het
Zfp637	G	T	6: 117,820,270 (GRCm39)		probably benign	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
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
R9529:Or6c68	UTSW	10	129,158,205 (GRCm39)	missense	probably damaging	1.00
Z1176:Or6c68	UTSW	10	129,158,088 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TCACCTGGAATTCTGTGACTC -3'
(R):5'- CCTGAGAAGCTTGTTTAACTTGC -3'

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

Posted On

2016-08-04