Mutagenetix > Incidental Mutation

Incidental Mutation 'R1744:Or6c69'

200598

Institutional Source

Beutler Lab

Gene Symbol

Or6c69

Ensembl Gene

ENSMUSG00000063715

Gene Name

olfactory receptor family 6 subfamily C member 69

Synonyms

MOR113-1, Olfr816, GA_x6K02T2PULF-11590830-11589892

MMRRC Submission

039776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129747207-129748145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129747262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 295 (V295G)

Ref Sequence

ENSEMBL: ENSMUSP00000149515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071605] [ENSMUST00000213438]

AlphaFold

Q8VFU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000071605
AA Change: V295G

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

SMART Domains

Protein: ENSMUSP00000071534
Gene: ENSMUSG00000063715
AA Change: V295G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	6.9e-50	PFAM
Pfam:7tm_1	39	288	1.2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213438
AA Change: V295G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213618

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

98% (59/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	G	5: 81,942,267 (GRCm39)	E1247G	probably damaging	Het
Bcl2l15	T	A	3: 103,745,856 (GRCm39)	L165Q	probably damaging	Het
Cd163	C	A	6: 124,283,987 (GRCm39)	A53E	possibly damaging	Het
Cemip2	C	A	19: 21,809,501 (GRCm39)	Y960*	probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clca3a1	G	T	3: 144,452,596 (GRCm39)	A629D	probably damaging	Het
Csde1	T	A	3: 102,957,631 (GRCm39)	S463R	probably benign	Het
Cth	C	G	3: 157,611,905 (GRCm39)	R304P	probably damaging	Het
D7Ertd443e	A	G	7: 133,951,142 (GRCm39)	V177A	probably benign	Het
Ddx56	G	A	11: 6,216,396 (GRCm39)	R189W	probably damaging	Het
Dennd2a	A	T	6: 39,457,185 (GRCm39)	F752L	probably benign	Het
Gabrp	A	T	11: 33,522,462 (GRCm39)	V28E	probably benign	Het
Gpam	T	C	19: 55,063,023 (GRCm39)	E763G	probably damaging	Het
Hars1	G	A	18: 36,903,885 (GRCm39)	R266C	probably benign	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2d	T	C	15: 98,762,928 (GRCm39)	K281E	probably damaging	Het
Lbx1	T	C	19: 45,222,652 (GRCm39)	K124E	probably damaging	Het
Lcp2	T	C	11: 34,019,911 (GRCm39)		probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	A	T	4: 123,369,646 (GRCm39)	I140K	probably damaging	Het
Mcemp1	G	A	8: 3,716,054 (GRCm39)	A20T	probably damaging	Het
Met	T	C	6: 17,540,645 (GRCm39)	V137A	possibly damaging	Het
Mgat5	T	C	1: 127,407,206 (GRCm39)	F624S	probably damaging	Het
Nutm2	T	C	13: 50,623,390 (GRCm39)	I29T	probably benign	Het
Ociad1	T	C	5: 73,458,062 (GRCm39)		probably null	Het
Ogfod2	G	A	5: 124,252,219 (GRCm39)		probably null	Het
Or8g4	A	C	9: 39,661,711 (GRCm39)	T10P	probably benign	Het
Otoa	G	A	7: 120,726,999 (GRCm39)		probably benign	Het
Otud3	A	C	4: 138,623,059 (GRCm39)	L394R	probably damaging	Het
Pde5a	T	C	3: 122,541,546 (GRCm39)	V12A	probably damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prr27	A	G	5: 87,990,906 (GRCm39)	I173V	possibly damaging	Het
Psg29	T	C	7: 16,944,278 (GRCm39)	C263R	probably damaging	Het
Ptprm	T	C	17: 66,996,361 (GRCm39)	Y1242C	probably damaging	Het
Retsat	C	T	6: 72,583,558 (GRCm39)	R84*	probably null	Het
Rif1	G	A	2: 52,002,404 (GRCm39)	V1953I	possibly damaging	Het
Ros1	A	T	10: 51,999,475 (GRCm39)	N1137K	probably damaging	Het
Scn1a	T	C	2: 66,152,620 (GRCm39)	H787R	probably benign	Het
Sec16a	T	C	2: 26,329,198 (GRCm39)	E939G	probably damaging	Het
Sh2d4a	G	A	8: 68,783,807 (GRCm39)	G247D	possibly damaging	Het
Siglec1	A	G	2: 130,923,219 (GRCm39)	S509P	probably damaging	Het
Slc25a30	A	G	14: 76,000,770 (GRCm39)	I278T	probably damaging	Het
Slc6a20a	C	T	9: 123,492,058 (GRCm39)	V104I	probably benign	Het
Sp110	G	C	1: 85,522,093 (GRCm39)	T70S	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stxbp1	A	G	2: 32,696,731 (GRCm39)		probably null	Het
Tmem132b	T	C	5: 125,855,908 (GRCm39)		probably null	Het
Tnfsf13b	G	A	8: 10,081,661 (GRCm39)		probably null	Het
Trappc6a	A	G	7: 19,248,154 (GRCm39)	E38G	probably damaging	Het
Trps1	T	C	15: 50,524,609 (GRCm39)	D857G	probably damaging	Het
Tspear	T	A	10: 77,700,718 (GRCm39)		probably null	Het
Vmn1r23	A	T	6: 57,902,910 (GRCm39)	N289K	possibly damaging	Het
Zcchc8	G	A	5: 123,838,436 (GRCm39)	Q701*	probably null	Het
Zfp618	A	T	4: 63,004,871 (GRCm39)		probably benign	Het

Other mutations in Or6c69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Or6c69	APN	10	129,748,114 (GRCm39)	missense	possibly damaging	0.89
IGL01650:Or6c69	APN	10	129,747,550 (GRCm39)	missense	probably benign	0.00
IGL01766:Or6c69	APN	10	129,747,649 (GRCm39)	missense	probably damaging	1.00
IGL02738:Or6c69	APN	10	129,747,200 (GRCm39)	utr 3 prime	probably benign
IGL02824:Or6c69	APN	10	129,747,565 (GRCm39)	missense	probably damaging	1.00
R0401:Or6c69	UTSW	10	129,747,785 (GRCm39)	missense	probably benign	0.18
R0688:Or6c69	UTSW	10	129,747,752 (GRCm39)	missense	probably damaging	0.99
R1589:Or6c69	UTSW	10	129,747,550 (GRCm39)	missense	probably benign	0.00
R2049:Or6c69	UTSW	10	129,748,036 (GRCm39)	missense	probably benign	0.30
R3763:Or6c69	UTSW	10	129,747,314 (GRCm39)	missense	probably damaging	1.00
R3952:Or6c69	UTSW	10	129,747,505 (GRCm39)	missense	probably benign	0.00
R3971:Or6c69	UTSW	10	129,747,742 (GRCm39)	missense	probably benign	0.01
R4557:Or6c69	UTSW	10	129,747,398 (GRCm39)	missense	probably damaging	1.00
R5538:Or6c69	UTSW	10	129,747,871 (GRCm39)	missense	probably benign	0.13
R6127:Or6c69	UTSW	10	129,747,284 (GRCm39)	missense	probably damaging	1.00
R6227:Or6c69	UTSW	10	129,747,536 (GRCm39)	missense	probably damaging	1.00
R6394:Or6c69	UTSW	10	129,747,789 (GRCm39)	missense	probably damaging	1.00
R6707:Or6c69	UTSW	10	129,747,608 (GRCm39)	missense	probably benign	0.02
R7257:Or6c69	UTSW	10	129,748,156 (GRCm39)	start gained	probably benign
R7258:Or6c69	UTSW	10	129,748,156 (GRCm39)	start gained	probably benign
R7260:Or6c69	UTSW	10	129,748,156 (GRCm39)	start gained	probably benign
R7409:Or6c69	UTSW	10	129,748,120 (GRCm39)	missense	possibly damaging	0.74
R7539:Or6c69	UTSW	10	129,747,932 (GRCm39)	missense	probably damaging	1.00
R7782:Or6c69	UTSW	10	129,747,392 (GRCm39)	missense	probably damaging	1.00
R7984:Or6c69	UTSW	10	129,747,941 (GRCm39)	missense	probably benign	0.00
R8879:Or6c69	UTSW	10	129,747,731 (GRCm39)	missense	probably damaging	1.00
R9533:Or6c69	UTSW	10	129,747,404 (GRCm39)	missense	probably benign	0.20
R9717:Or6c69	UTSW	10	129,748,048 (GRCm39)	missense	probably damaging	1.00
X0019:Or6c69	UTSW	10	129,747,964 (GRCm39)	missense	probably damaging	1.00
Z1191:Or6c69	UTSW	10	129,747,826 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACGCAGGTCACAACCTGAATTCTAAA -3'
(R):5'- GACACTCTTACTCACGCTGGTAATGG -3'

Sequencing Primer
(F):5'- gtttgtttggttggttgtttttttg -3'
(R):5'- TGATCATATCCTACACCTACATTGC -3'

Posted On

2014-05-23