Mutagenetix > Incidental Mutation

Incidental Mutation 'R2226:Or7g19'

239733

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

040227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R2226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18855946-18856884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18856177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 78 (I78F)

Ref Sequence

ENSEMBL: ENSMUSP00000151834 (fasta)

Gene Model

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

AlphaFold

Q7TRG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000060601
AA Change: I78F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056724
Gene: ENSMUSG00000095957
AA Change: I78F

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 damaging
Transcript: ENSMUST00000218385
AA Change: I78F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	T	4: 144,190,295 (GRCm39)	V2E	possibly damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Aggf1	A	G	13: 95,507,354 (GRCm39)	S144P	probably damaging	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Ascc3	A	G	10: 50,630,148 (GRCm39)	T1746A	probably benign	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
Atp1b3	A	G	9: 96,225,329 (GRCm39)	F113S	probably damaging	Het
Cacna1h	T	C	17: 25,604,917 (GRCm39)	N1132S	probably benign	Het
Ccdc150	A	G	1: 54,404,084 (GRCm39)	I943V	probably null	Het
Cntnap4	A	G	8: 113,542,120 (GRCm39)	D751G	probably damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Efhb	A	T	17: 53,769,457 (GRCm39)		probably null	Het
Elfn2	A	G	15: 78,558,443 (GRCm39)	W35R	probably damaging	Het
Emcn	T	C	3: 137,109,778 (GRCm39)	I140T	possibly damaging	Het
Epha2	G	A	4: 141,048,548 (GRCm39)	R569H	probably damaging	Het
Gabrg2	A	T	11: 41,862,735 (GRCm39)	F116L	probably damaging	Het
Gm11555	T	G	11: 99,540,585 (GRCm39)	R141S	unknown	Het
Hectd3	T	C	4: 116,852,886 (GRCm39)	I96T	possibly damaging	Het
Hnrnpul2	T	A	19: 8,802,349 (GRCm39)	N405K	probably damaging	Het
Iigp1	A	T	18: 60,522,960 (GRCm39)	K26I	possibly damaging	Het
Kirrel2	T	C	7: 30,153,579 (GRCm39)	K260R	probably damaging	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Krt19	T	C	11: 100,032,401 (GRCm39)	E260G	probably damaging	Het
Marchf7	A	G	2: 60,060,190 (GRCm39)	R106G	probably benign	Het
Mthfd2l	G	T	5: 91,096,693 (GRCm39)	E105*	probably null	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Ndufaf5	T	C	2: 140,030,780 (GRCm39)	V222A	probably benign	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Nsun7	T	A	5: 66,418,562 (GRCm39)	Y97*	probably null	Het
Nxph3	T	C	11: 95,404,990 (GRCm39)	Y17C	probably benign	Het
Or2l5	T	C	16: 19,333,996 (GRCm39)	H130R	probably benign	Het
Or4k1	A	G	14: 50,378,076 (GRCm39)	S7P	probably damaging	Het
Or51a5	A	G	7: 102,771,115 (GRCm39)	M292T	probably benign	Het
Or5aq1	A	C	2: 86,966,590 (GRCm39)	V25G	possibly damaging	Het
P2rx2	A	G	5: 110,490,745 (GRCm39)	F26S	probably damaging	Het
Pank1	A	T	19: 34,804,763 (GRCm39)	L131Q	probably damaging	Het
Pcx	T	C	19: 4,668,026 (GRCm39)	I516T	possibly damaging	Het
Pkhd1l1	T	C	15: 44,376,188 (GRCm39)	I950T	possibly damaging	Het
Ppwd1	A	G	13: 104,353,753 (GRCm39)	L335P	probably damaging	Het
Ptch1	A	G	13: 63,661,485 (GRCm39)	S1218P	probably damaging	Het
Ptpn4	C	T	1: 119,610,515 (GRCm39)	R664Q	probably damaging	Het
Semp2l1	A	T	1: 32,584,934 (GRCm39)	H325Q	probably damaging	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Sgsm3	A	G	15: 80,888,069 (GRCm39)	E53G	probably damaging	Het
Slc22a19	C	T	19: 7,661,215 (GRCm39)	V320M	possibly damaging	Het
Slc25a33	A	T	4: 149,838,306 (GRCm39)	I122N	probably benign	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Thoc2l	T	A	5: 104,667,286 (GRCm39)	Y603N	probably damaging	Het
Ttc12	A	G	9: 49,353,135 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,742,634 (GRCm39)	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,701,295 (GRCm39)	Y68*	probably null	Het
Zfp738	A	G	13: 67,818,431 (GRCm39)	F520S	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
R1923:Or7g19	UTSW	9	18,856,781 (GRCm39)	missense	probably benign	0.21
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'- ACATCATGAAGAGAGGAAACGTTTC -3'
(R):5'- TGACTGTGTACCTCAGTGGATG -3'

Sequencing Primer
(F):5'- TCTCATGGGACTATCAGATAACCAAG -3'
(R):5'- TACCTCAGTGGATGACAGATAGCC -3'

Posted On

2014-10-15