Mutagenetix > Incidental Mutation

Incidental Mutation 'R0466:Or7g27'

41642

Institutional Source

Beutler Lab

Gene Symbol

Or7g27

Ensembl Gene

ENSMUSG00000061614

Gene Name

olfactory receptor family 7 subfamily G member 27

Synonyms

MOR150-1P, GA_x6K02T2PVTD-13076685-13077623, MOR150-2, Olfr1522-ps1, MOR150-1, Olfr845, MOR150-1P

MMRRC Submission

038666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R0466 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19249755-19250696 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19250475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 240 (T240S)

Ref Sequence

ENSEMBL: ENSMUSP00000150474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071259] [ENSMUST00000213344] [ENSMUST00000215572]

AlphaFold

Q7TRG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000071259
AA Change: T240S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071239
Gene: ENSMUSG00000061614
AA Change: T240S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.1e-56	PFAM
Pfam:7tm_1	41	290	2.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212246
AA Change: T240S

Predicted Effect

probably damaging
Transcript: ENSMUST00000213344
AA Change: T240S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215572
AA Change: T240S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.2052

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

97% (63/65)

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
4933412E24Rik	T	C	15: 59,887,321 (GRCm39)	Y373C	probably benign	Het
Abca12	T	G	1: 71,341,822 (GRCm39)	Q1046H	probably damaging	Het
Adgrv1	A	G	13: 81,714,415 (GRCm39)	F956S	probably benign	Het
Alk	A	G	17: 72,212,152 (GRCm39)	V797A	possibly damaging	Het
Ascl2	A	G	7: 142,522,217 (GRCm39)	L77P	probably benign	Het
Aspm	A	T	1: 139,405,639 (GRCm39)	I1509F	probably damaging	Het
AY358078	A	T	14: 52,043,089 (GRCm39)	Y259F	unknown	Het
Cbs	G	A	17: 31,835,126 (GRCm39)	A450V	probably benign	Het
Cdh11	T	A	8: 103,396,690 (GRCm39)	Q213L	possibly damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cfap126	T	C	1: 170,953,769 (GRCm39)	I113T	probably damaging	Het
Clk4	A	G	11: 51,158,155 (GRCm39)	D53G	possibly damaging	Het
Dab1	T	C	4: 104,577,747 (GRCm39)	L272P	probably benign	Het
Dmtf1	A	T	5: 9,182,454 (GRCm39)		probably null	Het
Dph5	A	C	3: 115,722,359 (GRCm39)	D279A	probably benign	Het
Fbxw19	T	A	9: 109,307,717 (GRCm39)	T461S	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gcg	T	C	2: 62,307,282 (GRCm39)	D93G	probably damaging	Het
Gmps	A	G	3: 63,901,365 (GRCm39)	T395A	probably damaging	Het
H2-Ob	A	G	17: 34,461,633 (GRCm39)	D124G	probably damaging	Het
Itga8	G	T	2: 12,237,697 (GRCm39)	A341E	probably damaging	Het
Itih3	A	G	14: 30,634,831 (GRCm39)		probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kif2c	C	T	4: 117,029,489 (GRCm39)	R215Q	possibly damaging	Het
Letm1	A	C	5: 33,919,074 (GRCm39)		probably benign	Het
Lypd8l	T	C	11: 58,503,331 (GRCm39)		probably benign	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Myh8	G	T	11: 67,189,405 (GRCm39)	A1194S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Nfib	A	C	4: 82,416,775 (GRCm39)	Y87D	probably damaging	Het
Nlrp4a	T	C	7: 26,162,045 (GRCm39)		probably benign	Het
Nsmce1	A	T	7: 125,071,408 (GRCm39)		probably benign	Het
Odad2	T	A	18: 7,286,758 (GRCm39)	I158F	probably benign	Het
Or7g12	T	G	9: 18,899,551 (GRCm39)	V89G	probably benign	Het
Patj	C	A	4: 98,576,393 (GRCm39)	Q1193K	probably damaging	Het
Pcdhb5	G	A	18: 37,455,596 (GRCm39)	V659M	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pmis2	T	C	7: 30,370,817 (GRCm39)	I46V	probably benign	Het
Ppp2r5e	A	G	12: 75,509,216 (GRCm39)		probably benign	Het
Prom2	A	G	2: 127,370,709 (GRCm39)	F825S	probably damaging	Het
Rab11fip2	G	A	19: 59,894,675 (GRCm39)	A524V	possibly damaging	Het
Rb1cc1	A	C	1: 6,333,491 (GRCm39)		probably null	Het
Rwdd3	G	C	3: 120,952,668 (GRCm39)	Q180E	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgcg	A	T	14: 61,459,135 (GRCm39)	C265S	probably damaging	Het
Slc16a3	T	C	11: 120,848,878 (GRCm39)	S445P	possibly damaging	Het
Slc22a3	G	A	17: 12,677,380 (GRCm39)	Q263*	probably null	Het
Sorcs3	A	G	19: 48,736,758 (GRCm39)	T694A	probably benign	Het
Tbc1d15	T	C	10: 115,055,077 (GRCm39)	K322E	probably damaging	Het
Tecta	G	T	9: 42,284,369 (GRCm39)	F905L	probably benign	Het
Tmeff1	A	G	4: 48,636,853 (GRCm39)	I184V	possibly damaging	Het
Ttf1	A	G	2: 28,955,419 (GRCm39)	H261R	possibly damaging	Het
Ttll6	T	A	11: 96,036,417 (GRCm39)	L349M	probably damaging	Het
Ubac2	G	A	14: 122,211,031 (GRCm39)	V134M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r25	T	G	6: 123,829,008 (GRCm39)	I89L	probably benign	Het
Vmn2r6	A	C	3: 64,463,723 (GRCm39)	F370L	probably damaging	Het
Vps13b	T	A	15: 35,445,748 (GRCm39)	Y412*	probably null	Het
Zfp142	A	G	1: 74,624,570 (GRCm39)	S85P	possibly damaging	Het
Zfp516	G	A	18: 82,975,579 (GRCm39)		probably null	Het

Other mutations in Or7g27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Or7g27	APN	9	19,250,068 (GRCm39)	missense	possibly damaging	0.56
IGL01637:Or7g27	APN	9	19,250,260 (GRCm39)	missense	probably damaging	1.00
IGL01767:Or7g27	APN	9	19,250,598 (GRCm39)	missense	possibly damaging	0.54
IGL01945:Or7g27	APN	9	19,250,628 (GRCm39)	missense	probably damaging	0.98
IGL02202:Or7g27	APN	9	19,250,545 (GRCm39)	missense	probably benign	0.06
IGL02877:Or7g27	APN	9	19,250,497 (GRCm39)	missense	possibly damaging	0.86
R1521:Or7g27	UTSW	9	19,249,948 (GRCm39)	missense	probably benign	0.35
R1650:Or7g27	UTSW	9	19,249,943 (GRCm39)	missense	possibly damaging	0.49
R1766:Or7g27	UTSW	9	19,250,154 (GRCm39)	missense	probably benign	0.06
R2060:Or7g27	UTSW	9	19,250,352 (GRCm39)	missense	probably benign	0.01
R2082:Or7g27	UTSW	9	19,250,574 (GRCm39)	missense	probably benign	0.36
R2257:Or7g27	UTSW	9	19,249,789 (GRCm39)	missense	probably benign	0.01
R2892:Or7g27	UTSW	9	19,250,034 (GRCm39)	missense	probably benign	0.04
R3156:Or7g27	UTSW	9	19,250,720 (GRCm39)	splice site	probably null
R3943:Or7g27	UTSW	9	19,250,371 (GRCm39)	missense	probably benign	0.05
R4116:Or7g27	UTSW	9	19,249,940 (GRCm39)	missense	probably benign	0.39
R4518:Or7g27	UTSW	9	19,250,556 (GRCm39)	missense	possibly damaging	0.86
R4814:Or7g27	UTSW	9	19,250,476 (GRCm39)	missense	probably damaging	1.00
R5339:Or7g27	UTSW	9	19,250,455 (GRCm39)	missense	possibly damaging	0.78
R6647:Or7g27	UTSW	9	19,249,925 (GRCm39)	missense	possibly damaging	0.50
R7493:Or7g27	UTSW	9	19,250,109 (GRCm39)	missense	probably damaging	0.98
R7522:Or7g27	UTSW	9	19,250,294 (GRCm39)	nonsense	probably null
R7584:Or7g27	UTSW	9	19,250,569 (GRCm39)	missense	possibly damaging	0.94
R9127:Or7g27	UTSW	9	19,250,026 (GRCm39)	missense	probably benign
R9463:Or7g27	UTSW	9	19,250,320 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGCACAGAGGTTGAAATCCCACAC -3'
(R):5'- CTGAGTCCCTTGAAATCCAGCCAC -3'

Sequencing Primer
(F):5'- CTGTGAACTTGCTCAGATCATAAAGC -3'
(R):5'- GGAAGCTATCCTTCCAACGTG -3'

Posted On

2013-05-23