Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Or6c6c'

453633

Institutional Source

Beutler Lab

Gene Symbol

Or6c6c

Ensembl Gene

ENSMUSG00000095401

Gene Name

olfactory receptor family 6 subfamily C member 6C

Synonyms

GA_x6K02T2PULF-11383575-11384519, MOR110-7, Olfr804

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129540749-129541693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129540756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 3 (N3I)

Ref Sequence

ENSEMBL: ENSMUSP00000150132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077312] [ENSMUST00000213331]

AlphaFold

Q7TRH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000077312
AA Change: N3I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076540
Gene: ENSMUSG00000095401
AA Change: N3I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	6e-48	PFAM
Pfam:7tm_1	39	288	3.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213331
AA Change: N3I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216747

Meta Mutation Damage Score

0.2359

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s1	G	A	6: 124,517,912 (GRCm39)	P23S	possibly damaging	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Chrm2	A	T	6: 36,500,385 (GRCm39)	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Hpgd	T	A	8: 56,760,702 (GRCm39)	I133N	possibly damaging	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Mafa	A	G	15: 75,619,627 (GRCm39)	S49P	probably benign	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Numb	G	T	12: 83,923,521 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Pi4k2a	A	G	19: 42,103,477 (GRCm39)	D329G	probably benign	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tk1	G	T	11: 117,706,748 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	Het

Other mutations in Or6c6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Or6c6c	APN	10	129,541,492 (GRCm39)	missense	probably benign	0.01
IGL02041:Or6c6c	APN	10	129,541,104 (GRCm39)	missense	probably damaging	1.00
IGL02245:Or6c6c	APN	10	129,541,608 (GRCm39)	missense	probably damaging	1.00
IGL02341:Or6c6c	APN	10	129,541,358 (GRCm39)	missense	probably damaging	0.99
IGL02433:Or6c6c	APN	10	129,541,445 (GRCm39)	missense	probably benign	0.01
authen	UTSW	10	129,541,668 (GRCm39)	missense	probably benign	0.00
R0111:Or6c6c	UTSW	10	129,541,146 (GRCm39)	missense	probably damaging	1.00
R0309:Or6c6c	UTSW	10	129,541,008 (GRCm39)	missense	probably benign	0.38
R0326:Or6c6c	UTSW	10	129,541,638 (GRCm39)	missense	possibly damaging	0.69
R0374:Or6c6c	UTSW	10	129,541,516 (GRCm39)	missense	probably benign	0.00
R1573:Or6c6c	UTSW	10	129,541,487 (GRCm39)	missense	probably damaging	1.00
R1663:Or6c6c	UTSW	10	129,541,160 (GRCm39)	missense	probably benign	0.44
R1778:Or6c6c	UTSW	10	129,541,574 (GRCm39)	missense	probably benign	0.01
R1789:Or6c6c	UTSW	10	129,541,476 (GRCm39)	missense	possibly damaging	0.82
R1906:Or6c6c	UTSW	10	129,541,365 (GRCm39)	missense	probably benign	0.00
R2108:Or6c6c	UTSW	10	129,541,490 (GRCm39)	missense	probably benign
R2211:Or6c6c	UTSW	10	129,541,320 (GRCm39)	missense	probably benign
R2432:Or6c6c	UTSW	10	129,540,794 (GRCm39)	missense	possibly damaging	0.91
R2902:Or6c6c	UTSW	10	129,541,320 (GRCm39)	missense	probably benign
R4114:Or6c6c	UTSW	10	129,541,668 (GRCm39)	missense	probably benign	0.00
R5149:Or6c6c	UTSW	10	129,541,377 (GRCm39)	missense	probably benign	0.00
R5153:Or6c6c	UTSW	10	129,541,026 (GRCm39)	missense	probably benign	0.05
R6553:Or6c6c	UTSW	10	129,540,932 (GRCm39)	missense	probably benign	0.07
R7676:Or6c6c	UTSW	10	129,541,155 (GRCm39)	missense	possibly damaging	0.63
R8161:Or6c6c	UTSW	10	129,540,753 (GRCm39)	missense	possibly damaging	0.94
R9266:Or6c6c	UTSW	10	129,541,547 (GRCm39)	missense	probably benign	0.17
R9318:Or6c6c	UTSW	10	129,541,283 (GRCm39)	missense	probably benign	0.00
R9334:Or6c6c	UTSW	10	129,541,683 (GRCm39)	missense	probably benign	0.00
R9746:Or6c6c	UTSW	10	129,541,208 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TATAGAGGCCATTTGGAAGTGAATG -3'
(R):5'- AAATACATTGGGGTTTTGAGGC -3'

Sequencing Primer
(F):5'- CCTATAGCATATAATCATGTGTCACC -3'
(R):5'- TTTGAGGCGAGGGTCCAGC -3'

Posted On

2017-02-10