Mutagenetix > Incidental Mutation

Incidental Mutation 'R8783:Or4p19'

670377

Institutional Source

Beutler Lab

Gene Symbol

Or4p19

Ensembl Gene

ENSMUSG00000081836

Gene Name

olfactory receptor family 4 subfamily P member 19

Synonyms

GA_x6K02T2Q125-49900552-49899623, MOR225-1, Olfr1180

MMRRC Submission

068631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8783 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88241971-88243033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88242951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 17 (N17S)

Ref Sequence

ENSEMBL: ENSMUSP00000149838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099824] [ENSMUST00000216121] [ENSMUST00000217320]

AlphaFold

Q0VB29

Predicted Effect

probably benign
Transcript: ENSMUST00000099824
AA Change: N17S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000097412
Gene: ENSMUSG00000081836
AA Change: N17S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	300	2.8e-47	PFAM
Pfam:7tm_1	36	282	2.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216121
AA Change: N17S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000217320
AA Change: N17S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (75/75)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	T	A	13: 54,700,520 (GRCm39)	M273L	probably benign	Het
Aars1	A	G	8: 111,776,515 (GRCm39)	N657S	probably benign	Het
Ahnak	A	T	19: 8,988,837 (GRCm39)	N3374Y	probably damaging	Het
Ank2	T	C	3: 126,846,455 (GRCm39)	E180G	probably damaging	Het
Arhgap20	T	A	9: 51,727,967 (GRCm39)		probably benign	Het
Armc5	G	A	7: 127,837,425 (GRCm39)	A43T	probably damaging	Het
Atad3a	T	A	4: 155,840,152 (GRCm39)	D142V	probably damaging	Het
B4galnt4	A	T	7: 140,643,759 (GRCm39)	K54M	probably damaging	Het
Bcl11b	T	C	12: 107,883,562 (GRCm39)	E251G	probably damaging	Het
Bptf	A	G	11: 107,022,357 (GRCm39)	V131A	unknown	Het
Btbd7	T	A	12: 102,754,501 (GRCm39)	H755L	probably benign	Het
Cadps2	A	G	6: 23,302,303 (GRCm39)	V1128A	possibly damaging	Het
Ccl2	T	C	11: 81,927,360 (GRCm39)	I43T	probably damaging	Het
Cdc25b	T	G	2: 131,033,772 (GRCm39)	S207A	probably benign	Het
Chd4	A	G	6: 125,100,347 (GRCm39)	T1725A	possibly damaging	Het
Cmya5	A	T	13: 93,225,888 (GRCm39)	S3067T	possibly damaging	Het
Col9a3	G	A	2: 180,255,970 (GRCm39)	D448N	probably damaging	Het
Cpxm1	C	A	2: 130,237,643 (GRCm39)	R187S	probably benign	Het
Cramp1	T	A	17: 25,193,732 (GRCm39)	N916I	probably damaging	Het
Creld1	A	G	6: 113,468,686 (GRCm39)	Y269C	probably damaging	Het
Ctsz	G	T	2: 174,280,675 (GRCm39)	S6*	probably null	Het
Cul7	T	C	17: 46,966,575 (GRCm39)	S633P	probably benign	Het
Eci2	T	A	13: 35,174,180 (GRCm39)	N160I	probably damaging	Het
Eef2	T	A	10: 81,015,499 (GRCm39)	M340K	probably damaging	Het
Enpp6	A	T	8: 47,440,220 (GRCm39)	Y72F	possibly damaging	Het
Erbb4	A	C	1: 68,079,331 (GRCm39)	Y1250D	possibly damaging	Het
Fhad1	C	T	4: 141,636,403 (GRCm39)	V1146M	probably benign	Het
Fryl	T	C	5: 73,226,185 (GRCm39)	Y1826C	probably benign	Het
Gm3252	A	G	14: 4,743,761 (GRCm38)	K200E	probably benign	Het
Gramd1a	T	C	7: 30,832,220 (GRCm39)	T640A	possibly damaging	Het
Gse1	A	T	8: 121,303,117 (GRCm39)	Q1086L	unknown	Het
Gtf2f2	C	A	14: 76,245,164 (GRCm39)	G41W	probably damaging	Het
Hhat	A	G	1: 192,196,245 (GRCm39)	Y483H	probably damaging	Het
Ifna13	T	A	4: 88,562,526 (GRCm39)	R33W	probably damaging	Het
Ighg2c	T	A	12: 113,252,412 (GRCm39)	S47C		Het
Ing5	A	T	1: 93,740,154 (GRCm39)	D101V	probably damaging	Het
Kif23	T	C	9: 61,834,853 (GRCm39)	T379A	probably benign	Het
Ltn1	A	T	16: 87,207,247 (GRCm39)	S898T	probably benign	Het
Mep1a	T	C	17: 43,789,081 (GRCm39)	D578G	probably benign	Het
Mgam	A	T	6: 40,633,423 (GRCm39)	H243L	probably damaging	Het
Mlf1	G	A	3: 67,291,997 (GRCm39)	R54H	probably benign	Het
Mtus2	A	T	5: 148,019,861 (GRCm39)	K752M	probably damaging	Het
Muc21	T	C	17: 35,930,875 (GRCm39)	T1104A	unknown	Het
Mup18	T	A	4: 61,591,767 (GRCm39)	D53V	probably benign	Het
Neb	A	T	2: 52,148,644 (GRCm39)	D2634E	probably damaging	Het
Nfatc3	A	T	8: 106,825,784 (GRCm39)	I620F	possibly damaging	Het
Nrg1	A	T	8: 32,448,629 (GRCm39)	L104Q	probably benign	Het
Nsd2	T	A	5: 34,036,455 (GRCm39)	D646E	possibly damaging	Het
Or10w1	A	T	19: 13,632,323 (GRCm39)	R177W	probably damaging	Het
Or51ai2	A	T	7: 103,586,751 (GRCm39)	T55S	possibly damaging	Het
Pbp2	T	C	6: 135,287,330 (GRCm39)	S6G	probably benign	Het
Pcdhga5	T	C	18: 37,828,596 (GRCm39)	I348T	probably benign	Het
Pdxk	A	G	10: 78,287,339 (GRCm39)	V74A	probably benign	Het
Pdzrn3	C	T	6: 101,132,841 (GRCm39)	R469H	probably damaging	Het
Pla2g4a	A	T	1: 149,740,741 (GRCm39)	S395R	probably damaging	Het
Polr2i	A	G	7: 29,931,790 (GRCm39)	Y7C	possibly damaging	Het
Psmc5	A	T	11: 106,153,858 (GRCm39)	K397N	possibly damaging	Het
Ptprz1	A	G	6: 23,002,026 (GRCm39)	D1372G	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rapgef2	A	T	3: 79,005,651 (GRCm39)	V181E	probably damaging	Het
Rassf3	T	G	10: 121,253,069 (GRCm39)	N46T	probably benign	Het
Rnf123	T	C	9: 107,946,272 (GRCm39)	E301G	probably benign	Het
Sec24b	T	A	3: 129,783,342 (GRCm39)	M1099L	probably benign	Het
Shisa4	A	G	1: 135,300,944 (GRCm39)	C109R	probably damaging	Het
Slc7a1	T	A	5: 148,279,643 (GRCm39)	E237V	probably benign	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tas2r105	A	G	6: 131,663,732 (GRCm39)	I232T	possibly damaging	Het
Tas2r136	T	C	6: 132,754,612 (GRCm39)	T172A	probably benign	Het
Tdpoz8	A	G	3: 92,981,780 (GRCm39)	Y192C	probably damaging	Het
Trim6	G	A	7: 103,874,853 (GRCm39)	C30Y	probably damaging	Het
Trim65	T	A	11: 116,017,143 (GRCm39)	N440Y	probably damaging	Het
Ttn	A	C	2: 76,573,694 (GRCm39)	I25733S	probably damaging	Het
Ttn	T	G	2: 76,619,358 (GRCm39)	T16035P	probably damaging	Het
Vmn2r73	A	T	7: 85,507,668 (GRCm39)	M548K	probably damaging	Het
Vmn2r88	A	T	14: 51,651,523 (GRCm39)	E279V		Het
Wfdc8	G	A	2: 164,447,769 (GRCm39)	S97F	probably benign	Het
Wrn	G	A	8: 33,826,041 (GRCm39)	A207V	probably null	Het
Xrcc2	T	C	5: 25,897,217 (GRCm39)	D244G	possibly damaging	Het
Zfp251	C	T	15: 76,737,413 (GRCm39)	G560E	probably damaging	Het

Other mutations in Or4p19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or4p19	APN	2	88,242,135 (GRCm39)	missense	probably damaging	0.99
PIT4531001:Or4p19	UTSW	2	88,242,104 (GRCm39)	missense	probably benign	0.03
R0402:Or4p19	UTSW	2	88,242,378 (GRCm39)	missense	probably damaging	0.99
R1196:Or4p19	UTSW	2	88,242,890 (GRCm39)	missense	probably damaging	1.00
R1557:Or4p19	UTSW	2	88,242,555 (GRCm39)	missense	possibly damaging	0.65
R1695:Or4p19	UTSW	2	88,242,444 (GRCm39)	missense	probably damaging	0.98
R1840:Or4p19	UTSW	2	88,242,411 (GRCm39)	missense	probably benign	0.08
R2014:Or4p19	UTSW	2	88,242,388 (GRCm39)	missense	probably benign	0.03
R2042:Or4p19	UTSW	2	88,242,546 (GRCm39)	missense	possibly damaging	0.81
R5241:Or4p19	UTSW	2	88,242,442 (GRCm39)	missense	possibly damaging	0.60
R6043:Or4p19	UTSW	2	88,242,589 (GRCm39)	missense	probably benign	0.01
R7023:Or4p19	UTSW	2	88,242,759 (GRCm39)	missense	probably damaging	1.00
R7153:Or4p19	UTSW	2	88,242,462 (GRCm39)	missense	probably damaging	1.00
R7269:Or4p19	UTSW	2	88,242,839 (GRCm39)	missense	possibly damaging	0.94
R8711:Or4p19	UTSW	2	88,242,595 (GRCm39)	missense	probably damaging	1.00
R8784:Or4p19	UTSW	2	88,242,091 (GRCm39)	missense	probably benign	0.00
R8991:Or4p19	UTSW	2	88,242,723 (GRCm39)	missense	probably damaging	1.00
Z1176:Or4p19	UTSW	2	88,242,330 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAAAGAGCTGTGTCATGCAG -3'
(R):5'- GGGTTATCTCTCAAACAAAAGCTG -3'

Sequencing Primer
(F):5'- TCTGCCAGTAAATCAGTCAGG -3'
(R):5'- CTCTCAAACAAAAGCTGATGTCAGTG -3'

Posted On

2021-04-30