Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Or4c1'

554535

Institutional Source

Beutler Lab

Gene Symbol

Or4c1

Ensembl Gene

ENSMUSG00000075093

Gene Name

olfactory receptor family 4 subfamily C member 1

Synonyms

MOR235-2, GA_x6K02T2Q125-50748233-50747292, Olfr1231

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

PIT4305001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89132993-89133934 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89133727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 70 (I70V)

Ref Sequence

ENSEMBL: ENSMUSP00000150310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099786] [ENSMUST00000216144]

AlphaFold

Q7TQZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000099786
AA Change: I70V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: I70V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	306	7e-43	PFAM
Pfam:7tm_1	42	288	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216144
AA Change: I70V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,086,610 (GRCm39)	N801D	probably benign	Het
Adcy2	T	C	13: 68,826,721 (GRCm39)	K661R	probably benign	Het
Akap1	A	T	11: 88,735,204 (GRCm39)	M486K	probably benign	Het
Arhgap40	T	A	2: 158,373,825 (GRCm39)	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,382,022 (GRCm39)	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135 (GRCm39)	H340L	probably benign	Het
Cd5	A	G	19: 10,703,750 (GRCm39)	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,785,138 (GRCm39)	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,504,386 (GRCm39)	I59T	probably damaging	Het
Cutc	G	T	19: 43,756,708 (GRCm39)	A267S	probably damaging	Het
Dmwd	A	G	7: 18,814,643 (GRCm39)	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,042,738 (GRCm39)	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,412,508 (GRCm39)	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,617,918 (GRCm39)	I260T	probably benign	Het
Drd5	T	C	5: 38,477,927 (GRCm39)	F307L	probably damaging	Het
Dsc2	C	T	18: 20,179,300 (GRCm39)	S256N	probably damaging	Het
Dstyk	G	T	1: 132,383,634 (GRCm39)	E617*	probably null	Het
Dusp15	G	A	2: 152,787,396 (GRCm39)	H72Y	probably benign	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Fbxl13	T	A	5: 21,727,146 (GRCm39)	I584L	probably benign	Het
Gsap	T	C	5: 21,391,407 (GRCm39)	L16P	probably damaging	Het
Hgsnat	C	T	8: 26,435,227 (GRCm39)	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,335,147 (GRCm39)	T161A		Het
Hspg2	T	C	4: 137,277,684 (GRCm39)	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,355,485 (GRCm39)	P108S	probably benign	Het
Il17ra	A	T	6: 120,458,367 (GRCm39)	Y506F	probably damaging	Het
Il9r	T	A	11: 32,144,734 (GRCm39)	Q53L	probably benign	Het
Irf2bp2	C	T	8: 127,319,398 (GRCm39)	G260R	probably damaging	Het
Jdp2	T	A	12: 85,685,626 (GRCm39)	I129N	probably damaging	Het
Kif1b	T	C	4: 149,305,249 (GRCm39)		probably null	Het
Klrd1	A	G	6: 129,573,670 (GRCm39)	T120A	unknown	Het
Lfng	A	G	5: 140,598,283 (GRCm39)	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,802,095 (GRCm39)	E757G	probably damaging	Het
Ltn1	G	A	16: 87,217,211 (GRCm39)	P342L	probably damaging	Het
Lum	A	C	10: 97,404,738 (GRCm39)	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,160,990 (GRCm39)	R292*	probably null	Het
Nlrc4	T	C	17: 74,753,304 (GRCm39)	T360A	probably damaging	Het
Or7g32	T	C	9: 19,389,357 (GRCm39)	Y63C	probably damaging	Het
Pakap	C	A	4: 57,638,029 (GRCm39)	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,438,036 (GRCm39)	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,484,901 (GRCm39)	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,149,323 (GRCm39)	N349T	probably benign	Het
Poc1a	A	G	9: 106,227,028 (GRCm39)	Q420R		Het
Prl7d1	A	T	13: 27,898,320 (GRCm39)	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,662,061 (GRCm39)	M398I	probably benign	Het
Rapgef6	T	A	11: 54,570,203 (GRCm39)	V1192D	probably damaging	Het
Rif1	T	C	2: 52,001,970 (GRCm39)	V166A		Het
Robo4	T	C	9: 37,322,687 (GRCm39)	Y847H	probably damaging	Het
Sardh	T	C	2: 27,118,326 (GRCm39)	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,345 (GRCm39)	T553A	probably benign	Het
Serpina12	A	G	12: 104,001,976 (GRCm39)	Y247H	probably damaging	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Ston2	G	T	12: 91,615,276 (GRCm39)	D377E	possibly damaging	Het
Syne1	A	G	10: 5,283,023 (GRCm39)	S1557P	probably damaging	Het
Syt6	C	T	3: 103,482,769 (GRCm39)	R26W	possibly damaging	Het
Tep1	C	T	14: 51,066,684 (GRCm39)	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,328,771 (GRCm39)	T637A	possibly damaging	Het
Tnn	A	T	1: 159,913,647 (GRCm39)	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,315,888 (GRCm39)	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,579,862 (GRCm39)	V31A	possibly damaging	Het
Trpc7	G	T	13: 57,035,321 (GRCm39)	T204K	probably benign	Het
Urgcp	T	C	11: 5,667,996 (GRCm39)	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 11,994,590 (GRCm39)	I6K	probably benign	Het

Other mutations in Or4c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Or4c1	APN	2	89,133,816 (GRCm39)	missense	possibly damaging	0.90
IGL02189:Or4c1	APN	2	89,133,641 (GRCm39)	missense	probably damaging	1.00
IGL02354:Or4c1	APN	2	89,133,526 (GRCm39)	missense	probably benign	0.03
IGL02361:Or4c1	APN	2	89,133,526 (GRCm39)	missense	probably benign	0.03
R0973:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R0973:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R0974:Or4c1	UTSW	2	89,133,528 (GRCm39)	missense	probably damaging	1.00
R2006:Or4c1	UTSW	2	89,133,160 (GRCm39)	missense	possibly damaging	0.60
R3150:Or4c1	UTSW	2	89,133,562 (GRCm39)	missense	possibly damaging	0.82
R3177:Or4c1	UTSW	2	89,133,562 (GRCm39)	missense	possibly damaging	0.82
R3277:Or4c1	UTSW	2	89,133,562 (GRCm39)	missense	possibly damaging	0.82
R3409:Or4c1	UTSW	2	89,133,717 (GRCm39)	missense	probably benign
R4208:Or4c1	UTSW	2	89,133,270 (GRCm39)	missense	probably damaging	1.00
R4412:Or4c1	UTSW	2	89,133,684 (GRCm39)	missense	probably benign	0.00
R4693:Or4c1	UTSW	2	89,133,621 (GRCm39)	missense	probably benign	0.07
R4697:Or4c1	UTSW	2	89,133,247 (GRCm39)	missense	probably damaging	1.00
R4697:Or4c1	UTSW	2	89,133,246 (GRCm39)	missense	possibly damaging	0.90
R5411:Or4c1	UTSW	2	89,133,920 (GRCm39)	missense	probably benign
R5992:Or4c1	UTSW	2	89,133,703 (GRCm39)	missense	possibly damaging	0.50
R6894:Or4c1	UTSW	2	89,133,837 (GRCm39)	missense	probably damaging	1.00
R8017:Or4c1	UTSW	2	89,133,595 (GRCm39)	missense	possibly damaging	0.94
R8019:Or4c1	UTSW	2	89,133,595 (GRCm39)	missense	possibly damaging	0.94
R9274:Or4c1	UTSW	2	89,133,513 (GRCm39)	missense	probably damaging	0.98
R9457:Or4c1	UTSW	2	89,133,075 (GRCm39)	missense	probably damaging	1.00
X0064:Or4c1	UTSW	2	89,133,246 (GRCm39)	missense	possibly damaging	0.72
X0067:Or4c1	UTSW	2	89,133,498 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GGTTTGCATATGGCCACGTAG -3'
(R):5'- GGGAAGGCTTTATATCCTGAATGG -3'

Sequencing Primer
(F):5'- CGTAGCGGTCATAGGCCATAAC -3'
(R):5'- ACAGTCCTCCCAGTAATGTGACTG -3'

Posted On

2019-06-07