Mutagenetix > Incidental Mutation

Incidental Mutation 'R5472:Or6c69c'

433876

Institutional Source

Beutler Lab

Gene Symbol

Or6c69c

Ensembl Gene

ENSMUSG00000058251

Gene Name

olfactory receptor family 6 subfamily C member 69C

Synonyms

MOR113-2, Olfr822, GA_x6K02T2PULF-11745102-11746040

MMRRC Submission

043033-MU

Accession Numbers

Essential gene?

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

Stock #

R5472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129910281-129911219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129910898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 206 (L206F)

Ref Sequence

ENSEMBL: ENSMUSP00000150652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080460] [ENSMUST00000216879]

AlphaFold

Q8VFU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000080460
AA Change: L206F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079316
Gene: ENSMUSG00000058251
AA Change: L206F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	1.1e-49	PFAM
Pfam:7tm_1	39	288	9.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216879
AA Change: L206F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajm1	T	C	2: 25,469,714 (GRCm39)	T66A	probably benign	Het
Akap11	T	C	14: 78,750,869 (GRCm39)	N506S	probably benign	Het
Brinp3	A	T	1: 146,777,197 (GRCm39)	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,615,407 (GRCm39)	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,339,454 (GRCm39)	V47I	probably damaging	Het
Cdk2ap2	C	A	19: 4,148,048 (GRCm39)	T76K	probably benign	Het
Col16a1	T	C	4: 129,986,564 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,455,703 (GRCm39)	D583G	probably benign	Het
Cxcr4	C	A	1: 128,517,362 (GRCm39)	A100S	probably damaging	Het
Fancl	G	T	11: 26,419,677 (GRCm39)	C305F	probably damaging	Het
Gcnt2	T	C	13: 41,107,055 (GRCm39)	V308A	probably benign	Het
Gm11733	A	T	11: 117,375,322 (GRCm39)	I24L	unknown	Het
Gm973	A	G	1: 59,667,446 (GRCm39)		probably null	Het
Heatr5b	A	T	17: 79,109,089 (GRCm39)	F1057I	probably damaging	Het
Ifi213	A	T	1: 173,394,838 (GRCm39)		probably null	Het
Ighv1-20	A	T	12: 114,687,471 (GRCm39)	V91E	probably damaging	Het
Inhba	A	G	13: 16,201,371 (GRCm39)	E311G	probably damaging	Het
Irx3	G	T	8: 92,526,108 (GRCm39)		probably null	Het
Jag1	C	A	2: 136,926,915 (GRCm39)	C948F	probably damaging	Het
Kcna2	T	C	3: 107,012,625 (GRCm39)	I402T	possibly damaging	Het
Kcnh8	A	T	17: 53,284,844 (GRCm39)	Q938L	possibly damaging	Het
Lrsam1	ACC	AC	2: 32,835,870 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,343,854 (GRCm39)	T2123A	probably benign	Het
Mdfic2	A	T	6: 98,215,237 (GRCm39)	C129S	probably damaging	Het
Mdh1	A	T	11: 21,509,786 (GRCm39)	N196K	probably benign	Het
Msh6	G	A	17: 88,291,989 (GRCm39)	R248Q	possibly damaging	Het
Odf2l	G	T	3: 144,852,627 (GRCm39)	R457L	probably benign	Het
Pphln1	T	C	15: 93,386,856 (GRCm39)	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,075,973 (GRCm39)	T267I	probably damaging	Het
Pramel15	T	C	4: 144,103,727 (GRCm39)	D133G	probably benign	Het
Prpf8	A	C	11: 75,394,469 (GRCm39)	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,603,667 (GRCm39)		probably null	Het
Rasal3	C	A	17: 32,615,643 (GRCm39)	L374F	probably damaging	Het
S1pr3	T	A	13: 51,573,683 (GRCm39)	V288D	probably damaging	Het
Setd7	G	A	3: 51,428,886 (GRCm39)	P315S	probably benign	Het
Slx4	C	T	16: 3,809,404 (GRCm39)	A364T	probably benign	Het
Sp7	G	A	15: 102,267,749 (GRCm39)	T19I	probably benign	Het
Tlr9	T	A	9: 106,101,512 (GRCm39)	C268S	probably damaging	Het
Tmem117	T	A	15: 94,992,394 (GRCm39)	D351E	possibly damaging	Het
Tmem45b	T	A	9: 31,339,340 (GRCm39)	D211V	possibly damaging	Het
Tns3	A	G	11: 8,401,092 (GRCm39)	S1069P	probably benign	Het
Tsnax	A	G	8: 125,742,501 (GRCm39)	I77V	probably benign	Het
Txndc5	G	A	13: 38,697,101 (GRCm39)	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,684,548 (GRCm39)	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,490,943 (GRCm39)		probably null	Het
Vwde	A	T	6: 13,193,117 (GRCm39)	D407E	probably benign	Het
Wdr35	T	A	12: 9,066,619 (GRCm39)	M749K	probably benign	Het
Zfp109	A	T	7: 23,928,046 (GRCm39)	C462*	probably null	Het

Other mutations in Or6c69c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01624:Or6c69c	APN	10	129,910,519 (GRCm39)	missense	probably damaging	1.00
IGL01975:Or6c69c	APN	10	129,911,139 (GRCm39)	missense	probably damaging	1.00
IGL02354:Or6c69c	APN	10	129,911,143 (GRCm39)	missense	probably damaging	1.00
IGL02361:Or6c69c	APN	10	129,911,143 (GRCm39)	missense	probably damaging	1.00
IGL03184:Or6c69c	APN	10	129,910,627 (GRCm39)	missense	possibly damaging	0.82
IGL03197:Or6c69c	APN	10	129,910,548 (GRCm39)	missense	probably damaging	0.99
IGL03343:Or6c69c	APN	10	129,911,125 (GRCm39)	missense	probably damaging	1.00
R0310:Or6c69c	UTSW	10	129,910,692 (GRCm39)	missense	probably benign	0.00
R1288:Or6c69c	UTSW	10	129,911,154 (GRCm39)	missense	probably damaging	1.00
R1502:Or6c69c	UTSW	10	129,910,741 (GRCm39)	missense	probably damaging	0.97
R1527:Or6c69c	UTSW	10	129,911,061 (GRCm39)	missense	probably damaging	1.00
R3771:Or6c69c	UTSW	10	129,911,143 (GRCm39)	missense	probably damaging	1.00
R5022:Or6c69c	UTSW	10	129,910,462 (GRCm39)	missense	probably damaging	1.00
R5552:Or6c69c	UTSW	10	129,911,014 (GRCm39)	missense	probably damaging	0.99
R6451:Or6c69c	UTSW	10	129,911,007 (GRCm39)	missense	probably benign	0.01
R6986:Or6c69c	UTSW	10	129,911,199 (GRCm39)	missense	possibly damaging	0.63
R8101:Or6c69c	UTSW	10	129,910,875 (GRCm39)	missense	probably benign
R8468:Or6c69c	UTSW	10	129,910,303 (GRCm39)	missense	probably benign	0.03
R8785:Or6c69c	UTSW	10	129,910,485 (GRCm39)	missense	probably benign	0.01
R8988:Or6c69c	UTSW	10	129,910,522 (GRCm39)	missense	possibly damaging	0.95
R9083:Or6c69c	UTSW	10	129,910,969 (GRCm39)	missense	probably benign
R9083:Or6c69c	UTSW	10	129,910,941 (GRCm39)	missense	probably benign
R9084:Or6c69c	UTSW	10	129,910,969 (GRCm39)	missense	probably benign
R9084:Or6c69c	UTSW	10	129,910,941 (GRCm39)	missense	probably benign
R9366:Or6c69c	UTSW	10	129,911,067 (GRCm39)	nonsense	probably null
R9773:Or6c69c	UTSW	10	129,910,360 (GRCm39)	missense	possibly damaging	0.65
X0024:Or6c69c	UTSW	10	129,910,594 (GRCm39)	missense	probably damaging	0.99
Z1176:Or6c69c	UTSW	10	129,910,973 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CAGCTGGTCCTCAGTTGTTG -3'
(R):5'- TGTTGAGCACAGAAATTCCTTTGG -3'

Sequencing Primer
(F):5'- CTGGTCCTCAGTTGTTGGCTTATTAG -3'
(R):5'- GAGCACAGAAATTCCTTTGGAAATAG -3'

Posted On

2016-10-06