Mutagenetix > Incidental Mutation

Incidental Mutation 'R8891:Or6c88'

677700

Institutional Source

Beutler Lab

Gene Symbol

Or6c88

Ensembl Gene

ENSMUSG00000044293

Gene Name

olfactory receptor family 6 subfamily C member 88

Synonyms

MOR114-11, Olfr794, GA_x6K02T2PULF-11248702-11249664

MMRRC Submission

068753-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129406526-129407488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129407046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 174 (H174R)

Ref Sequence

ENSEMBL: ENSMUSP00000145301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059957] [ENSMUST00000204820]

AlphaFold

Q8VF26

Predicted Effect

probably damaging
Transcript: ENSMUST00000059957
AA Change: H174R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049790
Gene: ENSMUSG00000044293
AA Change: H174R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.8e-49	PFAM
Pfam:7tm_1	39	288	2e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204820
AA Change: H174R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145301
Gene: ENSMUSG00000044293
AA Change: H174R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.8e-49	PFAM
Pfam:7tm_1	39	288	2e-22	PFAM

Coding Region Coverage

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

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,520 (GRCm39)	K570*	probably null	Het
Abi1	T	C	2: 22,861,262 (GRCm39)	I99V	probably damaging	Het
Abtb3	G	A	10: 85,223,958 (GRCm39)	G256R	unknown	Het
Adgrg7	T	A	16: 56,572,762 (GRCm39)	E351D	probably benign	Het
Ankrd34c	T	G	9: 89,612,143 (GRCm39)	K66T	probably damaging	Het
Asap2	C	T	12: 21,162,144 (GRCm39)	R34W	probably damaging	Het
Atr	A	G	9: 95,787,813 (GRCm39)	T1469A	probably benign	Het
Ccdc168	T	C	1: 44,096,284 (GRCm39)	I1605V	probably benign	Het
Celsr1	G	T	15: 85,822,194 (GRCm39)	R1708S	probably benign	Het
Chmp2a	T	A	7: 12,767,840 (GRCm39)	E28D	probably benign	Het
Cldn24	A	T	8: 48,275,281 (GRCm39)	N35I	probably benign	Het
Coa6	G	C	8: 127,149,570 (GRCm39)		probably null	Het
Copa	C	T	1: 171,946,818 (GRCm39)	R1009C	probably damaging	Het
Crybb2	G	A	5: 113,209,913 (GRCm39)	T150M	possibly damaging	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Eid3	A	G	10: 82,702,992 (GRCm39)	N151S	probably damaging	Het
Fbxo17	G	T	7: 28,434,733 (GRCm39)	V173L	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,415,433 (GRCm39)	N240S	probably damaging	Het
Gck	G	T	11: 5,851,733 (GRCm39)	S445R	probably damaging	Het
Gm5114	C	A	7: 39,057,718 (GRCm39)	V634F	probably benign	Het
Gnat2	G	A	3: 108,005,634 (GRCm39)	D200N		Het
H13	A	G	2: 152,546,049 (GRCm39)	N390S	probably benign	Het
Helz	T	A	11: 107,552,842 (GRCm39)	M1206K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank1	G	A	19: 25,387,439 (GRCm39)	G371R	probably benign	Het
Kif13b	A	G	14: 64,982,326 (GRCm39)	T513A	probably damaging	Het
L3mbtl4	T	C	17: 68,762,781 (GRCm39)	S105P	possibly damaging	Het
Lpo	T	A	11: 87,697,848 (GRCm39)	E653V	probably benign	Het
Lyst	A	G	13: 13,887,435 (GRCm39)	D3088G	possibly damaging	Het
Man2b1	C	A	8: 85,811,084 (GRCm39)	H72N	probably damaging	Het
Mast3	A	T	8: 71,233,801 (GRCm39)	H981Q	probably damaging	Het
Meioc	T	A	11: 102,559,246 (GRCm39)	I56N	probably benign	Het
Mul1	A	C	4: 138,162,164 (GRCm39)	K32Q	probably benign	Het
Oas1c	C	T	5: 120,946,126 (GRCm39)	S124N	probably benign	Het
Omg	T	A	11: 79,393,829 (GRCm39)	K10*	probably null	Het
Or2a52	A	G	6: 43,144,750 (GRCm39)	I253V	probably benign	Het
Or4k52	A	T	2: 111,611,186 (GRCm39)	I174F	probably damaging	Het
Pcdhb14	T	A	18: 37,582,692 (GRCm39)	N599K	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Phf7	C	A	14: 30,971,613 (GRCm39)		probably benign	Het
Pramel15	C	T	4: 144,099,397 (GRCm39)	C456Y	probably damaging	Het
Qdpr	T	C	5: 45,604,982 (GRCm39)	N42S	probably damaging	Het
Rbm44	T	A	1: 91,090,136 (GRCm39)	D716E	probably benign	Het
Rprd2	A	C	3: 95,671,367 (GRCm39)	H1345Q	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,814,768 (GRCm39)	A668V	probably damaging	Het
Sag	T	A	1: 87,759,683 (GRCm39)	L307Q	probably damaging	Het
Sash1	G	A	10: 8,603,734 (GRCm39)	P1106L	probably damaging	Het
Sec16b	T	A	1: 157,382,409 (GRCm39)	I615N	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,628,993 (GRCm39)	V600A	probably benign	Het
Sucnr1	A	G	3: 59,994,263 (GRCm39)	T264A	probably benign	Het
Tbx3	A	G	5: 119,809,983 (GRCm39)		probably benign	Het
Tigd5	T	C	15: 75,783,069 (GRCm39)	V477A	possibly damaging	Het
Tle7	T	A	8: 110,836,763 (GRCm39)	S216R	possibly damaging	Het
Ttc17	G	A	2: 94,192,764 (GRCm39)	A89V	probably damaging	Het
Twsg1	A	G	17: 66,255,657 (GRCm39)	I39T		Het
Zfp184	T	C	13: 22,143,512 (GRCm39)	F406S	probably damaging	Het
Zfp429	A	T	13: 67,538,830 (GRCm39)	C205S	probably damaging	Het
Zfp59	T	A	7: 27,554,313 (GRCm39)	D588E	probably benign	Het
Zfp64	A	T	2: 168,797,083 (GRCm39)	M1K	probably null	Het

Other mutations in Or6c88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01867:Or6c88	APN	10	129,406,696 (GRCm39)	missense	possibly damaging	0.95
IGL02157:Or6c88	APN	10	129,407,019 (GRCm39)	missense	probably damaging	1.00
IGL02804:Or6c88	APN	10	129,407,306 (GRCm39)	missense	possibly damaging	0.60
IGL02833:Or6c88	APN	10	129,406,619 (GRCm39)	missense	probably benign	0.26
IGL02930:Or6c88	APN	10	129,407,184 (GRCm39)	missense	probably damaging	1.00
IGL03038:Or6c88	APN	10	129,406,790 (GRCm39)	missense	probably benign	0.07
G4846:Or6c88	UTSW	10	129,407,039 (GRCm39)	missense	probably damaging	1.00
R1539:Or6c88	UTSW	10	129,406,640 (GRCm39)	missense	probably damaging	0.99
R1737:Or6c88	UTSW	10	129,406,697 (GRCm39)	missense	probably damaging	1.00
R1845:Or6c88	UTSW	10	129,407,217 (GRCm39)	missense	probably damaging	1.00
R2198:Or6c88	UTSW	10	129,406,915 (GRCm39)	nonsense	probably null
R3086:Or6c88	UTSW	10	129,407,276 (GRCm39)	missense	probably damaging	1.00
R4960:Or6c88	UTSW	10	129,406,895 (GRCm39)	missense	probably damaging	1.00
R5938:Or6c88	UTSW	10	129,407,396 (GRCm39)	missense	probably damaging	1.00
R6326:Or6c88	UTSW	10	129,406,571 (GRCm39)	missense	possibly damaging	0.74
R6598:Or6c88	UTSW	10	129,407,238 (GRCm39)	missense	probably damaging	1.00
R7034:Or6c88	UTSW	10	129,406,941 (GRCm39)	missense	possibly damaging	0.91
R7066:Or6c88	UTSW	10	129,407,373 (GRCm39)	missense	probably damaging	1.00
R7226:Or6c88	UTSW	10	129,406,584 (GRCm39)	missense	probably benign	0.01
R7324:Or6c88	UTSW	10	129,406,718 (GRCm39)	missense	probably damaging	1.00
R7408:Or6c88	UTSW	10	129,406,493 (GRCm39)	start gained	probably benign
R7779:Or6c88	UTSW	10	129,407,180 (GRCm39)	missense	probably damaging	1.00
R8733:Or6c88	UTSW	10	129,406,579 (GRCm39)	missense	possibly damaging	0.90
R8931:Or6c88	UTSW	10	129,406,550 (GRCm39)	missense	probably benign	0.09
R9310:Or6c88	UTSW	10	129,406,687 (GRCm39)	missense	probably benign	0.00
R9681:Or6c88	UTSW	10	129,406,664 (GRCm39)	missense	probably damaging	1.00
Z1176:Or6c88	UTSW	10	129,407,105 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGACTCTTTGGAGCTACAGAG -3'
(R):5'- GCTTTCTTCCTCTGATGAGCAG -3'

Sequencing Primer
(F):5'- GCTGGCAGCTATGTCCTATGAC -3'
(R):5'- GAAGGGAATCTGAGAATTGTCCG -3'

Posted On

2021-08-02