Mutagenetix > Incidental Mutation

Incidental Mutation 'R4328:Or7g34'

324471

Institutional Source

Beutler Lab

Gene Symbol

Or7g34

Ensembl Gene

ENSMUSG00000095667

Gene Name

olfactory receptor family 7 subfamily G member 34

Synonyms

MOR147-3, GA_x6K02T2PVTD-13313295-13312357, Olfr854

MMRRC Submission

041098-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R4328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19477731-19478678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19478318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 121 (M121L)

Ref Sequence

ENSEMBL: ENSMUSP00000072248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072419] [ENSMUST00000212872]

AlphaFold

Q8VFF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072419
AA Change: M121L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072248
Gene: ENSMUSG00000095667
AA Change: M121L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.3e-51	PFAM
Pfam:7TM_GPCR_Srsx	38	308	9.6e-7	PFAM
Pfam:7tm_1	44	293	1.9e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212872
AA Change: M118L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.0777

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (56/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300009A05Rik	T	C	9: 63,306,238 (GRCm39)	K89R	probably damaging	Het
Aadacl4fm2	T	A	4: 144,282,164 (GRCm39)	K209N	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Bin3	A	G	14: 70,356,054 (GRCm39)	I4V	probably benign	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cd55	C	T	1: 130,375,104 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Col12a1	T	A	9: 79,607,671 (GRCm39)	T386S	possibly damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Crym	C	T	7: 119,794,562 (GRCm39)	G219E	probably damaging	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Eif1ad16	T	A	12: 87,985,285 (GRCm39)	D86V	possibly damaging	Het
Erlec1	C	T	11: 30,899,972 (GRCm39)	E166K	probably benign	Het
Gm3336	C	T	8: 71,173,234 (GRCm39)	T82I	probably benign	Het
Gm3604	A	T	13: 62,517,079 (GRCm39)	S425R	possibly damaging	Het
Gpn2	T	C	4: 133,315,919 (GRCm39)	V203A	probably benign	Het
Gskip	T	C	12: 105,666,960 (GRCm39)	Y113H	probably damaging	Het
Hcn2	T	C	10: 79,560,445 (GRCm39)	Y259H	probably damaging	Het
Hira	C	A	16: 18,715,362 (GRCm39)	Q87K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kirrel1	T	C	3: 86,992,081 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,607,956 (GRCm39)	D372G	probably benign	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Ly6e	C	A	15: 74,830,370 (GRCm39)	N73K	probably damaging	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Med24	A	G	11: 98,597,942 (GRCm39)		probably null	Het
Niban1	T	C	1: 151,512,169 (GRCm39)	S24P	possibly damaging	Het
Nup210l	C	A	3: 90,083,142 (GRCm39)		probably null	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or5w12	C	A	2: 87,502,008 (GRCm39)	R234S	possibly damaging	Het
Or8d1	T	C	9: 38,767,132 (GRCm39)	M258T	possibly damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pax8	A	G	2: 24,331,663 (GRCm39)	F140S	possibly damaging	Het
Ppargc1b	A	T	18: 61,515,540 (GRCm39)	C34*	probably null	Het
Ppp3cb	A	T	14: 20,581,016 (GRCm39)	I136K	probably damaging	Het
Prep	T	C	10: 44,996,745 (GRCm39)	V341A	probably benign	Het
Prickle4	C	A	17: 47,999,543 (GRCm39)	G337C	probably damaging	Het
Rabgap1	T	A	2: 37,422,627 (GRCm39)	Y627N	probably damaging	Het
Ryr1	T	C	7: 28,782,484 (GRCm39)	Y1953C	probably damaging	Het
Snrnp200	T	A	2: 127,064,137 (GRCm39)	V708D	probably damaging	Het
Tent5b	C	T	4: 133,213,914 (GRCm39)	Q262*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem62	T	A	2: 120,810,991 (GRCm39)	N156K	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Twsg1	T	C	17: 66,255,733 (GRCm39)	T14A	probably benign	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp239	T	C	6: 117,848,745 (GRCm39)	L161P	probably damaging	Het
Zpbp2	A	G	11: 98,448,432 (GRCm39)	T199A	probably benign	Het

Other mutations in Or7g34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Or7g34	APN	9	19,478,471 (GRCm39)	missense	probably damaging	1.00
IGL02072:Or7g34	APN	9	19,478,245 (GRCm39)	missense	probably benign	0.00
IGL02156:Or7g34	APN	9	19,478,494 (GRCm39)	missense	probably damaging	1.00
IGL02187:Or7g34	APN	9	19,478,393 (GRCm39)	missense	probably benign	0.16
IGL02252:Or7g34	APN	9	19,478,267 (GRCm39)	missense	probably damaging	0.99
R0519:Or7g34	UTSW	9	19,478,245 (GRCm39)	missense	probably benign	0.21
R0755:Or7g34	UTSW	9	19,478,415 (GRCm39)	missense	possibly damaging	0.94
R0899:Or7g34	UTSW	9	19,477,843 (GRCm39)	missense	probably damaging	1.00
R1832:Or7g34	UTSW	9	19,478,492 (GRCm39)	missense	possibly damaging	0.88
R2115:Or7g34	UTSW	9	19,478,618 (GRCm39)	missense	probably benign	0.12
R4326:Or7g34	UTSW	9	19,478,318 (GRCm39)	missense	possibly damaging	0.95
R4329:Or7g34	UTSW	9	19,478,318 (GRCm39)	missense	possibly damaging	0.95
R4379:Or7g34	UTSW	9	19,478,038 (GRCm39)	missense	probably benign	0.15
R4381:Or7g34	UTSW	9	19,478,038 (GRCm39)	missense	probably benign	0.15
R5576:Or7g34	UTSW	9	19,478,369 (GRCm39)	missense	probably benign
R6102:Or7g34	UTSW	9	19,478,318 (GRCm39)	missense	possibly damaging	0.87
R7449:Or7g34	UTSW	9	19,478,162 (GRCm39)	missense	probably benign	0.06
R7515:Or7g34	UTSW	9	19,477,949 (GRCm39)	missense	probably damaging	1.00
R8143:Or7g34	UTSW	9	19,478,587 (GRCm39)	missense	probably benign	0.04
R8813:Or7g34	UTSW	9	19,477,895 (GRCm39)	missense	probably damaging	1.00
R9515:Or7g34	UTSW	9	19,478,396 (GRCm39)	missense	possibly damaging	0.74
Z1176:Or7g34	UTSW	9	19,477,822 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGATGTGTGCAGAATGG -3'
(R):5'- TTACCATTTTCGGGAACATGC -3'

Sequencing Primer
(F):5'- ATGGCAGTCTTAGCACCATCAGG -3'
(R):5'- CCATTTTCGGGAACATGCTTATAGTG -3'

Posted On

2015-06-24