Mutagenetix > Incidental Mutation

Incidental Mutation 'R7801:Or7g19'

600536

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

045856-MU

Accession Numbers

Essential gene?

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

Stock #

R7801 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18855946-18856884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 18856555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 204 (S204R)

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: S204R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056724
Gene: ENSMUSG00000095957
AA Change: S204R

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: S204R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,558,207 (GRCm39)	Y165C	probably damaging	Het
Agbl3	A	T	6: 34,816,300 (GRCm39)	T742S	probably benign	Het
Arhgef10l	T	C	4: 140,271,578 (GRCm39)	T651A	probably benign	Het
Arsb	T	A	13: 93,998,835 (GRCm39)	I381N	probably damaging	Het
Blzf1	A	G	1: 164,123,478 (GRCm39)	V283A	probably benign	Het
Cadps	C	T	14: 12,489,476 (GRCm38)		probably null	Het
Casz1	A	T	4: 149,022,706 (GRCm39)	T591S	probably damaging	Het
Ccne2	T	C	4: 11,194,079 (GRCm39)		probably null	Het
Chst9	T	C	18: 15,585,334 (GRCm39)	T410A	probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Fam234a	T	C	17: 26,437,172 (GRCm39)	D169G	probably benign	Het
Fat1	C	T	8: 45,495,260 (GRCm39)	P4116L	probably damaging	Het
Fbxo21	G	T	5: 118,124,189 (GRCm39)	A166S	probably damaging	Het
Gbf1	A	G	19: 46,261,082 (GRCm39)	I1216V	probably benign	Het
Gper1	G	A	5: 139,412,443 (GRCm39)	A263T	probably benign	Het
Hdlbp	G	T	1: 93,358,029 (GRCm39)		probably null	Het
Ighg3	A	T	12: 113,323,436 (GRCm39)	L280Q		Het
Impa1	T	C	3: 10,386,727 (GRCm39)	T171A	probably benign	Het
Ints7	T	A	1: 191,347,859 (GRCm39)	Y744N	possibly damaging	Het
Irgc	G	T	7: 24,131,959 (GRCm39)	A286D	probably damaging	Het
Kif18a	T	C	2: 109,118,190 (GRCm39)	S2P	probably damaging	Het
Macf1	A	T	4: 123,302,064 (GRCm39)	W813R	probably damaging	Het
Mapkbp1	T	G	2: 119,842,554 (GRCm39)	H157Q	probably damaging	Het
Mfsd4b2	T	A	10: 39,799,777 (GRCm39)	M42L	probably benign	Het
Mon2	A	G	10: 122,895,091 (GRCm39)		probably null	Het
Myrfl	T	A	10: 116,684,240 (GRCm39)	H161L	probably benign	Het
Or2aj6	T	C	16: 19,443,373 (GRCm39)	H159R	probably damaging	Het
Phlpp2	T	G	8: 110,652,474 (GRCm39)	V606G	possibly damaging	Het
Psmb5	T	C	14: 54,854,212 (GRCm39)	T89A	probably benign	Het
Ptpn9	A	G	9: 56,968,297 (GRCm39)	T546A	probably benign	Het
Qrfprl	T	A	6: 65,418,201 (GRCm39)	V123D	probably damaging	Het
Rabep2	A	G	7: 126,037,584 (GRCm39)	M146V	possibly damaging	Het
Rptn	G	A	3: 93,305,531 (GRCm39)	E955K	possibly damaging	Het
Samd3	G	T	10: 26,139,770 (GRCm39)	V301F	possibly damaging	Het
Sh2b1	C	A	7: 126,070,464 (GRCm39)	C380F	probably benign	Het
Shank1	A	G	7: 44,001,022 (GRCm39)	M914V	unknown	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Stat5a	T	C	11: 100,771,143 (GRCm39)	F574S	probably damaging	Het
Tbx5	A	G	5: 119,975,064 (GRCm39)	E29G	probably benign	Het
Trpm5	A	C	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Zfp442	T	C	2: 150,251,639 (GRCm39)	S88G	probably benign	Het
Zfp62	T	A	11: 49,108,155 (GRCm39)	F749I	possibly damaging	Het
Zfp677	T	A	17: 21,618,277 (GRCm39)	S445T	probably damaging	Het
Zfp979	A	C	4: 147,698,435 (GRCm39)	N91K	probably damaging	Het
Zfyve9	A	G	4: 108,542,192 (GRCm39)	V209A	possibly damaging	Het
Zic4	G	T	9: 91,266,297 (GRCm39)	A314S	probably benign	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
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
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'- AATCCCAAACTCTGTGGGGTG -3'
(R):5'- TTCTGGAGCTATGAGTGCCAG -3'

Sequencing Primer
(F):5'- CAAACTCTGTGGGGTGATGGTTTTG -3'
(R):5'- GCTATGAGTGCCAGCAGAAC -3'

Posted On

2019-11-26