Mutagenetix > Incidental Mutation

Incidental Mutation 'R9660:Or4a27'

727492

Institutional Source

Beutler Lab

Gene Symbol

Or4a27

Ensembl Gene

ENSMUSG00000075119

Gene Name

olfactory receptor family 4 subfamily A member 27

Synonyms

MOR225-10P, Olfr1197, GA_x6K02T2Q125-50202854-50201910, MOR225-14

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R9660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88558997-88559941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88559142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 267 (K267R)

Ref Sequence

ENSEMBL: ENSMUSP00000150290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099815] [ENSMUST00000213118]

AlphaFold

Q7TR13

Predicted Effect

probably damaging
Transcript: ENSMUST00000099815
AA Change: K267R

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

SMART Domains

Protein: ENSMUSP00000097403
Gene: ENSMUSG00000075119
AA Change: K267R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	302	1.3e-45	PFAM
Pfam:7tm_1	39	285	7.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213118
AA Change: K267R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,478 (GRCm39)	M819V	probably benign	Het
Abca5	T	A	11: 110,168,248 (GRCm39)	T1461S	possibly damaging	Het
Actl6b	C	T	5: 137,562,766 (GRCm39)	R161C	probably damaging	Het
Aoc3	C	G	11: 101,221,914 (GRCm39)	P50R	possibly damaging	Het
Atr	G	A	9: 95,797,050 (GRCm39)	A1698T	probably benign	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Cdh11	C	T	8: 103,384,879 (GRCm39)	G399S	possibly damaging	Het
Chrna10	G	T	7: 101,761,416 (GRCm39)	L392I	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disp2	T	C	2: 118,620,627 (GRCm39)	V453A	probably benign	Het
Dpp9	A	G	17: 56,494,458 (GRCm39)	Y834H	probably damaging	Het
Emsy	A	G	7: 98,262,285 (GRCm39)	I598T	possibly damaging	Het
Entpd2	C	T	2: 25,288,153 (GRCm39)	R126C	probably damaging	Het
Fbxl17	A	T	17: 63,806,426 (GRCm39)	M196K	probably benign	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gga2	A	T	7: 121,606,494 (GRCm39)	M157K	possibly damaging	Het
Gna11	T	C	10: 81,370,918 (GRCm39)	N106S	probably benign	Het
Gtf3c1	A	C	7: 125,262,199 (GRCm39)	S1116A	possibly damaging	Het
Gucy2d	C	A	7: 98,099,064 (GRCm39)	D294E	probably damaging	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Kmt2e	T	C	5: 23,683,617 (GRCm39)	Y292H	probably damaging	Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Ly75	A	G	2: 60,154,184 (GRCm39)	S1088P	probably damaging	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Necab2	T	C	8: 120,189,403 (GRCm39)	V191A	possibly damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Nr4a3	A	G	4: 48,051,353 (GRCm39)	T36A	probably benign	Het
Nup210l	A	G	3: 90,105,402 (GRCm39)	T1517A	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or4g17	T	G	2: 111,210,239 (GRCm39)	I298R	probably damaging	Het
Or4p23	T	C	2: 88,576,872 (GRCm39)	Y120C	probably damaging	Het
Or51h7	C	T	7: 102,591,259 (GRCm39)	C175Y	probably damaging	Het
Pcnx2	A	T	8: 126,487,592 (GRCm39)	S1804T	probably damaging	Het
Pdcd11	T	A	19: 47,082,191 (GRCm39)	V35D	possibly damaging	Het
Pde10a	C	A	17: 9,170,370 (GRCm39)	T347K	probably damaging	Het
Rcc1l	A	G	5: 134,182,977 (GRCm39)	Y432H	probably benign	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Ripor3	T	A	2: 167,831,646 (GRCm39)	D385V	probably damaging	Het
Rrbp1	T	C	2: 143,831,178 (GRCm39)	K330E	probably damaging	Het
Ryr3	T	G	2: 112,664,074 (GRCm39)	D1759A	probably benign	Het
Scube3	A	G	17: 28,371,414 (GRCm39)	D43G	probably benign	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc1a6	T	A	10: 78,648,698 (GRCm39)	M473K	probably benign	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Spag6	C	A	2: 18,704,047 (GRCm39)	Q32K	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Togaram2	T	A	17: 72,024,365 (GRCm39)	S850T	probably damaging	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trpm2	T	A	10: 77,766,389 (GRCm39)	I877L	probably benign	Het
Ttn	T	C	2: 76,599,152 (GRCm39)	I19286V	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	probably benign	Het

Other mutations in Or4a27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Or4a27	APN	2	88,559,409 (GRCm39)	missense	probably damaging	1.00
IGL01515:Or4a27	APN	2	88,559,352 (GRCm39)	missense	probably benign
IGL01822:Or4a27	APN	2	88,559,136 (GRCm39)	missense	probably benign	0.03
IGL02060:Or4a27	APN	2	88,559,907 (GRCm39)	missense	probably damaging	0.98
IGL02466:Or4a27	APN	2	88,559,739 (GRCm39)	missense	probably damaging	1.00
IGL02698:Or4a27	APN	2	88,559,815 (GRCm39)	missense	probably damaging	1.00
R0336:Or4a27	UTSW	2	88,559,498 (GRCm39)	missense	possibly damaging	0.47
R1037:Or4a27	UTSW	2	88,559,376 (GRCm39)	missense	probably damaging	1.00
R1120:Or4a27	UTSW	2	88,559,281 (GRCm39)	missense	probably damaging	1.00
R1674:Or4a27	UTSW	2	88,559,601 (GRCm39)	missense	probably damaging	0.99
R1801:Or4a27	UTSW	2	88,559,608 (GRCm39)	missense	probably damaging	1.00
R1860:Or4a27	UTSW	2	88,559,674 (GRCm39)	missense	probably damaging	1.00
R1861:Or4a27	UTSW	2	88,559,674 (GRCm39)	missense	probably damaging	1.00
R2049:Or4a27	UTSW	2	88,559,089 (GRCm39)	missense	probably damaging	1.00
R2308:Or4a27	UTSW	2	88,559,428 (GRCm39)	missense	probably damaging	0.97
R2411:Or4a27	UTSW	2	88,559,741 (GRCm39)	missense	probably benign	0.06
R4707:Or4a27	UTSW	2	88,559,056 (GRCm39)	missense	possibly damaging	0.62
R5000:Or4a27	UTSW	2	88,559,910 (GRCm39)	missense	probably damaging	0.96
R5157:Or4a27	UTSW	2	88,559,892 (GRCm39)	missense	probably benign
R6000:Or4a27	UTSW	2	88,559,575 (GRCm39)	missense	probably damaging	1.00
R6021:Or4a27	UTSW	2	88,559,294 (GRCm39)	nonsense	probably null
R6389:Or4a27	UTSW	2	88,559,016 (GRCm39)	missense	probably benign	0.00
R6636:Or4a27	UTSW	2	88,559,185 (GRCm39)	missense	probably benign	0.01
R6637:Or4a27	UTSW	2	88,559,185 (GRCm39)	missense	probably benign	0.01
R6979:Or4a27	UTSW	2	88,559,528 (GRCm39)	missense	probably benign	0.03
R7618:Or4a27	UTSW	2	88,559,180 (GRCm39)	nonsense	probably null
R8382:Or4a27	UTSW	2	88,559,857 (GRCm39)	missense	probably damaging	0.98
R9177:Or4a27	UTSW	2	88,559,174 (GRCm39)	nonsense	probably null
R9293:Or4a27	UTSW	2	88,559,799 (GRCm39)	missense	probably benign	0.00
R9404:Or4a27	UTSW	2	88,559,551 (GRCm39)	missense	probably benign
X0020:Or4a27	UTSW	2	88,559,725 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTGACTTGTCAAATAGTAGCTG -3'
(R):5'- ATTGCCAACTCTGGGATGGTG -3'

Sequencing Primer
(F):5'- CTTGTCAAATAGTAGCTGACCTAGG -3'
(R):5'- GGTTGTTGCCATTTTTATTGTACTAC -3'

Posted On

2022-10-06