Mutagenetix > Incidental Mutation

Incidental Mutation 'R8797:Or6c65'

671321

Institutional Source

Beutler Lab

Gene Symbol

Or6c65

Ensembl Gene

ENSMUSG00000049894

Gene Name

olfactory receptor family 6 subfamily C member 65

Synonyms

GA_x6K02T2PULF-11446184-11447122, Olfr808, MOR112-2

MMRRC Submission

068638-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129603367-129604305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129603674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 103 (I103K)

Ref Sequence

ENSEMBL: ENSMUSP00000145315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060636] [ENSMUST00000203236]

AlphaFold

Q8VGI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060636
AA Change: I103K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059714
Gene: ENSMUSG00000049894
AA Change: I103K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.8e-53	PFAM
Pfam:7tm_1	39	288	7.7e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203236
AA Change: I103K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145315
Gene: ENSMUSG00000049894
AA Change: I103K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.8e-53	PFAM
Pfam:7tm_1	39	288	7.7e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (50/50)

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
Acsm5	C	A	7: 119,137,374 (GRCm39)	P397T	probably damaging	Het
Adamts14	C	T	10: 61,106,781 (GRCm39)	R113K	probably benign	Het
Baiap2	G	A	11: 119,897,201 (GRCm39)	V519I	probably benign	Het
Ccna1	C	T	3: 54,953,069 (GRCm39)	A233T	probably benign	Het
Cdon	T	C	9: 35,389,931 (GRCm39)	Y862H	probably damaging	Het
Crygc	C	T	1: 65,111,030 (GRCm39)	A86T	probably benign	Het
Cyb5d2	T	G	11: 72,669,662 (GRCm39)	N232T	probably benign	Het
Dnah14	C	A	1: 181,465,412 (GRCm39)	H1193N	probably benign	Het
Dnah17	T	G	11: 117,992,201 (GRCm39)	E1170A	probably benign	Het
Dnah7b	A	G	1: 46,162,806 (GRCm39)	Y384C	probably damaging	Het
Fat4	G	A	3: 39,053,278 (GRCm39)	V4091I	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
G6pc2	A	G	2: 69,050,441 (GRCm39)	Y22C	probably benign	Het
Gpihbp1	A	T	15: 75,469,828 (GRCm39)	Q181L	possibly damaging	Het
H2bc4	C	T	13: 23,868,552 (GRCm39)	S113L	probably damaging	Het
Hhatl	A	T	9: 121,619,965 (GRCm39)		probably benign	Het
Iars1	C	A	13: 49,841,738 (GRCm39)	S75R	probably benign	Het
Igfn1	T	A	1: 135,902,573 (GRCm39)	I375F	possibly damaging	Het
Itih4	A	G	14: 30,618,529 (GRCm39)	I647V	probably benign	Het
Jmjd1c	T	A	10: 67,060,616 (GRCm39)	C703S	probably benign	Het
L3mbtl2	C	T	15: 81,569,615 (GRCm39)	T619I	possibly damaging	Het
Lct	T	C	1: 128,231,684 (GRCm39)	T722A	possibly damaging	Het
Meioc	C	T	11: 102,567,686 (GRCm39)	Q827*	probably null	Het
Meis2	T	C	2: 115,694,986 (GRCm39)	S386G	probably benign	Het
Mroh8	T	A	2: 157,071,876 (GRCm39)	D543V	probably damaging	Het
Ms4a13	C	T	19: 11,161,200 (GRCm39)	R113H	probably benign	Het
Myrfl	T	C	10: 116,613,325 (GRCm39)	Y826C	probably benign	Het
Nf1	T	C	11: 79,366,711 (GRCm39)		probably benign	Het
Nrg3	A	C	14: 38,093,243 (GRCm39)	L542R	probably benign	Het
Or13j1	T	C	4: 43,706,455 (GRCm39)	T38A	probably damaging	Het
Or2y8	T	A	11: 52,036,340 (GRCm39)	T6S	probably benign	Het
Pcdh15	A	G	10: 74,419,978 (GRCm39)	N1212S	probably damaging	Het
Pcsk5	G	A	19: 17,443,472 (GRCm39)	T1229I	probably benign	Het
Pkd1l3	A	T	8: 110,374,946 (GRCm39)	H1483L	probably benign	Het
Polr3b	T	A	10: 84,532,879 (GRCm39)	L840*	probably null	Het
Psd4	A	T	2: 24,287,440 (GRCm39)	R457S	probably benign	Het
Relch	T	C	1: 105,678,121 (GRCm39)	S1149P	possibly damaging	Het
Rgs12	A	G	5: 35,186,915 (GRCm39)	S194G		Het
Rps3	A	G	7: 99,132,797 (GRCm39)		probably null	Het
Saxo4	T	C	19: 10,455,602 (GRCm39)	I216V	probably benign	Het
Sgcb	G	T	5: 73,793,036 (GRCm39)	N255K	probably benign	Het
Sla2	A	G	2: 156,717,799 (GRCm39)	Y158H	probably damaging	Het
Sla2	G	A	2: 156,717,823 (GRCm39)	Q150*	probably null	Het
Slc12a2	T	A	18: 58,012,455 (GRCm39)	Y193N	possibly damaging	Het
Supt16	G	T	14: 52,409,960 (GRCm39)	T749K	probably damaging	Het
Uqcrc2	A	G	7: 120,239,500 (GRCm39)	E104G	probably damaging	Het
Vasp	T	C	7: 18,994,563 (GRCm39)	N251S	unknown	Het
Vmn1r72	A	G	7: 11,403,965 (GRCm39)	M161T	probably benign	Het
Zc3h18	T	C	8: 123,134,989 (GRCm39)		probably benign	Het
Zfp981	T	A	4: 146,619,906 (GRCm39)	L20*	probably null	Het

Other mutations in Or6c65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Or6c65	APN	10	129,603,455 (GRCm39)	missense	probably null	0.99
IGL01313:Or6c65	APN	10	129,603,464 (GRCm39)	missense	probably damaging	1.00
IGL01923:Or6c65	APN	10	129,603,973 (GRCm39)	missense	probably benign	0.01
IGL02010:Or6c65	APN	10	129,604,136 (GRCm39)	missense	probably benign	0.07
IGL02393:Or6c65	APN	10	129,603,662 (GRCm39)	missense	probably benign	0.06
IGL03026:Or6c65	APN	10	129,603,910 (GRCm39)	missense	probably benign	0.00
R1181:Or6c65	UTSW	10	129,604,033 (GRCm39)	missense	probably benign	0.09
R1760:Or6c65	UTSW	10	129,603,417 (GRCm39)	missense	probably benign	0.06
R1844:Or6c65	UTSW	10	129,603,725 (GRCm39)	missense	probably benign	0.03
R2697:Or6c65	UTSW	10	129,603,793 (GRCm39)	missense	probably benign	0.09
R3025:Or6c65	UTSW	10	129,603,542 (GRCm39)	missense	probably damaging	1.00
R3414:Or6c65	UTSW	10	129,604,301 (GRCm39)	missense	probably benign
R5824:Or6c65	UTSW	10	129,604,250 (GRCm39)	missense	probably damaging	1.00
R6260:Or6c65	UTSW	10	129,603,389 (GRCm39)	missense	probably benign	0.00
R6723:Or6c65	UTSW	10	129,604,284 (GRCm39)	missense	probably benign	0.38
R6758:Or6c65	UTSW	10	129,603,920 (GRCm39)	missense	probably damaging	0.97
R7305:Or6c65	UTSW	10	129,603,720 (GRCm39)	nonsense	probably null
R7422:Or6c65	UTSW	10	129,604,136 (GRCm39)	missense	possibly damaging	0.95
R8393:Or6c65	UTSW	10	129,604,304 (GRCm39)	makesense	probably null
R8444:Or6c65	UTSW	10	129,603,794 (GRCm39)	missense	probably damaging	1.00
R8702:Or6c65	UTSW	10	129,604,284 (GRCm39)	missense	probably benign	0.38
R8717:Or6c65	UTSW	10	129,604,127 (GRCm39)	missense	probably damaging	1.00
R9356:Or6c65	UTSW	10	129,604,035 (GRCm39)	missense	possibly damaging	0.87
R9596:Or6c65	UTSW	10	129,603,988 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGCCACATACCTACTGAGTG -3'
(R):5'- TGAAGGCCCATGATTACAGG -3'

Sequencing Primer
(F):5'- CCACATACCTACTGAGTGTAAGTGG -3'
(R):5'- CCATGATTACAGGGGGAAAAAC -3'

Posted On

2021-04-30