Mutagenetix > Incidental Mutation

Incidental Mutation 'R7782:Or6c69'

599318

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

045838-MU

Accession Numbers

Essential gene?

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

Stock #

R7782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129747207-129748145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129747392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 252 (S252R)

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: S252R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071534
Gene: ENSMUSG00000063715
AA Change: S252R

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: S252R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTATGTGTGT	GTGTGTGT	11: 43,478,239 (GRCm39)		probably null	Het
Adamts16	A	G	13: 70,984,265 (GRCm39)	S133P	probably damaging	Het
Adamts17	T	C	7: 66,774,802 (GRCm39)	W1001R	probably damaging	Het
Aox4	T	A	1: 58,270,251 (GRCm39)		probably null	Het
B4galnt4	C	T	7: 140,644,988 (GRCm39)	P221S	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
BC034090	T	C	1: 155,108,410 (GRCm39)		probably benign	Het
Best2	T	A	8: 85,736,143 (GRCm39)	D312V	probably damaging	Het
Bod1l	A	T	5: 41,975,286 (GRCm39)	D2009E	probably benign	Het
Ccdc158	A	C	5: 92,793,373 (GRCm39)	S672A	probably benign	Het
Ccdc43	A	T	11: 102,588,443 (GRCm39)	L31Q	probably damaging	Het
Cdcp3	G	A	7: 130,904,466 (GRCm39)		probably null	Het
Chaf1a	T	G	17: 56,369,291 (GRCm39)	H507Q	probably benign	Het
Clptm1l	A	G	13: 73,752,439 (GRCm39)	Y28C	probably damaging	Het
Cp	G	A	3: 20,029,223 (GRCm39)		probably null	Het
Crocc	C	T	4: 140,752,597 (GRCm39)	A1432T	probably benign	Het
Crybg2	A	G	4: 133,801,137 (GRCm39)	T457A	probably benign	Het
Csnk2a1-ps3	C	T	1: 156,352,552 (GRCm39)	T251I	probably damaging	Het
Dennd4a	A	G	9: 64,814,202 (GRCm39)	D1473G	probably damaging	Het
Diaph3	A	G	14: 87,274,940 (GRCm39)	F172S	probably benign	Het
Dnajc5b	A	G	3: 19,629,006 (GRCm39)	N100S	probably benign	Het
Dusp13b	G	A	14: 21,791,404 (GRCm39)	T16I	possibly damaging	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Fat1	A	G	8: 45,403,948 (GRCm39)	Y233C	probably damaging	Het
Fcgbp	T	A	7: 27,784,460 (GRCm39)	Y173*	probably null	Het
Fign	T	A	2: 63,809,506 (GRCm39)	D588V	probably damaging	Het
Fignl2	C	T	15: 100,951,188 (GRCm39)	V365M	unknown	Het
Fnip2	A	C	3: 79,415,430 (GRCm39)	Y203D	probably benign	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gfral	C	A	9: 76,100,572 (GRCm39)	V289L	probably benign	Het
H2bc21	T	A	3: 96,128,487 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,103,370 (GRCm39)	T1161K	probably damaging	Het
Hectd4	A	T	5: 121,443,784 (GRCm39)	I1335F	possibly damaging	Het
Htt	T	A	5: 35,040,336 (GRCm39)	V2166D	probably benign	Het
Ipo5	G	C	14: 121,170,537 (GRCm39)	K436N	possibly damaging	Het
Iqca1l	A	G	5: 24,749,224 (GRCm39)	L758P	probably damaging	Het
Itga6	A	G	2: 71,671,879 (GRCm39)	E794G	probably damaging	Het
Itga9	G	A	9: 118,672,712 (GRCm39)	C148Y		Het
Kcnip2	A	C	19: 45,785,524 (GRCm39)		probably null	Het
Kcnk6	T	C	7: 28,925,269 (GRCm39)	T116A	possibly damaging	Het
Kctd21	A	G	7: 96,997,297 (GRCm39)	I257V	probably benign	Het
Kif19a	G	A	11: 114,672,748 (GRCm39)	R299Q	probably damaging	Het
Kifc2	G	A	15: 76,548,328 (GRCm39)	G391R	probably benign	Het
Klrg2	A	G	6: 38,604,562 (GRCm39)	V381A	possibly damaging	Het
Mob1b	A	G	5: 88,897,542 (GRCm39)		probably null	Het
Or13p8	T	C	4: 118,584,106 (GRCm39)	Y221H	probably damaging	Het
Or6c75	T	C	10: 129,337,020 (GRCm39)	V81A	probably benign	Het
Or7c70	T	C	10: 78,683,447 (GRCm39)	I101V	probably benign	Het
Oxsm	C	A	14: 16,240,925 (GRCm38)	A375S	possibly damaging	Het
Pcdha3	T	C	18: 37,081,193 (GRCm39)	V645A	probably damaging	Het
Pcdhb15	T	A	18: 37,607,788 (GRCm39)	V340E	possibly damaging	Het
Pced1a	G	A	2: 130,264,435 (GRCm39)	P132S	probably damaging	Het
Pla2r1	C	T	2: 60,334,531 (GRCm39)	V414M	probably benign	Het
Plekhg4	A	C	8: 106,104,399 (GRCm39)	I493L	probably benign	Het
Plekhj1	T	A	10: 80,634,179 (GRCm39)		probably benign	Het
Pmfbp1	G	T	8: 110,254,412 (GRCm39)	K482N	probably damaging	Het
Ppil3	T	C	1: 58,473,574 (GRCm39)	N92S	probably benign	Het
Ppt2	A	G	17: 34,844,686 (GRCm39)	S156P	probably benign	Het
Prss41	A	T	17: 24,056,087 (GRCm39)	D255E	probably benign	Het
Psg25	T	A	7: 18,255,227 (GRCm39)	M430L	probably benign	Het
Rffl	A	T	11: 82,703,595 (GRCm39)	C109*	probably null	Het
Rock2	A	G	12: 17,021,111 (GRCm39)	E991G	probably benign	Het
Rpap2	A	G	5: 107,768,058 (GRCm39)	I299V	probably benign	Het
Rras	T	C	7: 44,670,529 (GRCm39)	S158P	probably benign	Het
Serpinb10	G	A	1: 107,463,196 (GRCm39)		probably benign	Het
Smyd3	A	T	1: 178,799,859 (GRCm39)	I360N	possibly damaging	Het
Synm	A	G	7: 67,384,714 (GRCm39)	S541P	probably damaging	Het
Tasor	A	G	14: 27,193,901 (GRCm39)	T1034A	probably benign	Het
Tbc1d31	C	A	15: 57,821,764 (GRCm39)	T813K	possibly damaging	Het
Trav7n-4	A	G	14: 53,329,103 (GRCm39)	M38V	probably benign	Het
Tulp3	A	C	6: 128,301,943 (GRCm39)	N359K	possibly damaging	Het
Twf1	T	C	15: 94,480,654 (GRCm39)	K196E	probably benign	Het
Usp24	A	T	4: 106,173,771 (GRCm39)	N35Y	probably damaging	Het
Usp46	T	A	5: 74,162,772 (GRCm39)	E342D	probably benign	Het
Vps50	T	A	6: 3,532,202 (GRCm39)		probably null	Het
Vps8	T	A	16: 21,330,308 (GRCm39)	I727N	possibly damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zfp11	A	T	5: 129,734,027 (GRCm39)	V478E	possibly damaging	Het
Zfp493	A	G	13: 67,935,123 (GRCm39)	K359E	probably benign	Het
Zfp536	T	C	7: 37,268,126 (GRCm39)	Y430C	probably damaging	Het
Zfpm1	A	G	8: 123,063,689 (GRCm39)	D916G	unknown	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
R1744:Or6c69	UTSW	10	129,747,262 (GRCm39)	missense	probably damaging	1.00
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
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'- TCGAGGAAGATGCAATCCTG -3'
(R):5'- TGACACAACTCCACTTCTTCAG -3'

Sequencing Primer
(F):5'- GAAGATGCAATCCTGTGTACTG -3'
(R):5'- ACACAGCTCCTGGAGACGATG -3'

Posted On

2019-11-26