Mutagenetix > Incidental Mutation

Incidental Mutation 'R1923:Or7g19'

213223

Institutional Source

Beutler Lab

Gene Symbol

Or7g19

Ensembl Gene

ENSMUSG00000095957

Gene Name

olfactory receptor family 7 subfamily G member 19

Synonyms

GA_x6K02T2PVTD-12687800-12688738, Olfr832, MOR153-1

MMRRC Submission

039941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R1923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18855946-18856884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18856781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 279 (T279I)

Ref Sequence

ENSEMBL: ENSMUSP00000151834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060601] [ENSMUST00000218385]

AlphaFold

Q7TRG9

Predicted Effect

probably benign
Transcript: ENSMUST00000060601
AA Change: T279I

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056724
Gene: ENSMUSG00000095957
AA Change: T279I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.1e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.1e-6	PFAM
Pfam:7tm_1	41	290	1.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218385
AA Change: T279I

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.2291

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (52/53)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,743 (GRCm39)	E163G	probably damaging	Het
4921513D11Rik	A	G	17: 79,935,562 (GRCm39)		probably benign	Het
Acox3	T	A	5: 35,749,459 (GRCm39)	F195I	possibly damaging	Het
Acsl6	T	C	11: 54,216,417 (GRCm39)	Y135H	probably damaging	Het
Ankhd1	C	A	18: 36,781,083 (GRCm39)	A2045E	probably benign	Het
Ap5z1	A	G	5: 142,458,096 (GRCm39)	H423R	probably benign	Het
Arsk	T	A	13: 76,214,985 (GRCm39)		probably benign	Het
Bpi	G	A	2: 158,103,083 (GRCm39)	G76D	probably damaging	Het
Carmil3	A	G	14: 55,739,861 (GRCm39)	T983A	probably damaging	Het
Ccdc192	A	T	18: 57,666,959 (GRCm39)	D12V	probably damaging	Het
Chmp2b	A	T	16: 65,342,213 (GRCm39)	M125K	possibly damaging	Het
Clca3a2	T	A	3: 144,511,491 (GRCm39)	I26L	probably damaging	Het
Cubn	T	C	2: 13,315,337 (GRCm39)	Y3032C	probably damaging	Het
Ehbp1	T	A	11: 22,101,850 (GRCm39)	D226V	probably damaging	Het
Enpp6	A	T	8: 47,535,541 (GRCm39)	D362V	probably damaging	Het
Fam53b	A	G	7: 132,317,521 (GRCm39)	S374P	probably damaging	Het
Fmn1	T	C	2: 113,260,066 (GRCm39)		probably benign	Het
Fndc7	C	T	3: 108,784,003 (GRCm39)	R202H	probably benign	Het
Frmd4b	T	G	6: 97,265,415 (GRCm39)	D951A	probably benign	Het
Git2	A	G	5: 114,877,162 (GRCm39)	Y107H	probably damaging	Het
Gm11595	A	T	11: 99,663,365 (GRCm39)	V105E	unknown	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrriq4	C	A	3: 30,713,242 (GRCm39)	Q448K	probably benign	Het
Ly6g5c	A	G	17: 35,330,863 (GRCm39)	I128M	possibly damaging	Het
Mroh9	T	A	1: 162,903,860 (GRCm39)	S51C	probably damaging	Het
Myh3	A	G	11: 66,970,828 (GRCm39)	S2G	probably benign	Het
Nat8f4	A	G	6: 85,878,497 (GRCm39)	Y9H	probably damaging	Het
Negr1	T	C	3: 156,267,836 (GRCm39)	V2A	probably benign	Het
Or2y1	C	T	11: 49,386,131 (GRCm39)	T257I	probably damaging	Het
Or8k32	T	G	2: 86,368,857 (GRCm39)	Y132S	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pdgfra	C	A	5: 75,324,394 (GRCm39)	T83K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Retreg1	A	G	15: 25,969,924 (GRCm39)	D109G	probably damaging	Het
Rgs12	T	A	5: 35,189,613 (GRCm39)	W674R	probably damaging	Het
Rgs18	T	C	1: 144,631,818 (GRCm39)	D98G	possibly damaging	Het
Rnf146	A	G	10: 29,223,715 (GRCm39)	F57S	probably damaging	Het
Skic3	T	A	13: 76,282,889 (GRCm39)	V737D	probably damaging	Het
Slc22a20	C	A	19: 6,021,464 (GRCm39)	V513L	probably benign	Het
Stox2	G	T	8: 47,646,661 (GRCm39)	F266L	probably damaging	Het
Tbx21	C	T	11: 96,990,863 (GRCm39)	V272M	probably damaging	Het
Tmc7	A	G	7: 118,144,850 (GRCm39)	F570S	probably benign	Het
Tmem236	T	C	2: 14,224,117 (GRCm39)	I302T	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm3	T	C	19: 22,862,776 (GRCm39)	L506S	probably damaging	Het
Uggt1	T	C	1: 36,218,694 (GRCm39)	I78V	probably damaging	Het
Xpo4	A	T	14: 57,828,328 (GRCm39)	V844D	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het

Other mutations in Or7g19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03018:Or7g19	APN	9	18,856,177 (GRCm39)	missense	probably damaging	0.98
IGL03172:Or7g19	APN	9	18,856,757 (GRCm39)	missense	probably benign	0.01
R0537:Or7g19	UTSW	9	18,856,444 (GRCm39)	missense	probably damaging	1.00
R2226:Or7g19	UTSW	9	18,856,177 (GRCm39)	missense	probably damaging	0.98
R2234:Or7g19	UTSW	9	18,856,112 (GRCm39)	missense	probably damaging	1.00
R2402:Or7g19	UTSW	9	18,856,496 (GRCm39)	missense	probably damaging	0.98
R4060:Or7g19	UTSW	9	18,856,346 (GRCm39)	missense	probably benign	0.09
R4537:Or7g19	UTSW	9	18,856,526 (GRCm39)	missense	possibly damaging	0.85
R4715:Or7g19	UTSW	9	18,856,742 (GRCm39)	missense	probably benign	0.01
R5557:Or7g19	UTSW	9	18,856,466 (GRCm39)	missense	possibly damaging	0.94
R6001:Or7g19	UTSW	9	18,856,340 (GRCm39)	missense	probably damaging	1.00
R6172:Or7g19	UTSW	9	18,856,042 (GRCm39)	missense	probably benign	0.00
R6415:Or7g19	UTSW	9	18,856,415 (GRCm39)	missense	probably damaging	1.00
R6594:Or7g19	UTSW	9	18,856,127 (GRCm39)	missense	probably damaging	0.98
R6874:Or7g19	UTSW	9	18,856,777 (GRCm39)	missense	possibly damaging	0.95
R7801:Or7g19	UTSW	9	18,856,555 (GRCm39)	missense	probably damaging	0.97
R7818:Or7g19	UTSW	9	18,856,305 (GRCm39)	nonsense	probably null
R7880:Or7g19	UTSW	9	18,856,024 (GRCm39)	missense	probably benign	0.06
R7890:Or7g19	UTSW	9	18,856,799 (GRCm39)	missense	probably benign	0.10
R8352:Or7g19	UTSW	9	18,856,459 (GRCm39)	missense	possibly damaging	0.51
R8452:Or7g19	UTSW	9	18,856,459 (GRCm39)	missense	possibly damaging	0.51
R8776:Or7g19	UTSW	9	18,856,286 (GRCm39)	missense	possibly damaging	0.93
R8776-TAIL:Or7g19	UTSW	9	18,856,286 (GRCm39)	missense	possibly damaging	0.93
R8931:Or7g19	UTSW	9	18,855,920 (GRCm39)	splice site	probably benign
R9438:Or7g19	UTSW	9	18,856,326 (GRCm39)	nonsense	probably null
Z1088:Or7g19	UTSW	9	18,856,717 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GTGACAAGCCTGTTTGGTATTC -3'
(R):5'- CCATCTGATGTATGGTTTCATGACC -3'

Sequencing Primer
(F):5'- GACAAGCCTGTTTGGTATTCTTCCAC -3'
(R):5'- GGTTTCATGACCAAAAACTCATTG -3'

Posted On

2014-07-14