Mutagenetix > Incidental Mutation

Incidental Mutation 'R7150:Or14c45'

554059

Institutional Source

Beutler Lab

Gene Symbol

Or14c45

Ensembl Gene

ENSMUSG00000057067

Gene Name

olfactory receptor family 14 subfamily C member 45

Synonyms

Olfr297, GA_x6K02T2NHDJ-9587747-9586815, MOR220-3

MMRRC Submission

045252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86175967-86176899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86176322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 119 (D119A)

Ref Sequence

ENSEMBL: ENSMUSP00000134371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071112] [ENSMUST00000172965]

AlphaFold

Q7TS07

Predicted Effect

probably damaging
Transcript: ENSMUST00000071112
AA Change: D119A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132942
Gene: ENSMUSG00000057067
AA Change: D119A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	1.9e-45	PFAM
Pfam:7tm_1	39	288	1.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172965
AA Change: D119A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134371
Gene: ENSMUSG00000057067
AA Change: D119A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	305	1.2e-46	PFAM
Pfam:7tm_1	39	288	2e-20	PFAM

Meta Mutation Damage Score

0.6199

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	C	8: 125,589,653 (GRCm39)	D20G	possibly damaging	Het
5430401F13Rik	T	C	6: 131,529,630 (GRCm39)	S75P	probably benign	Het
Acad8	A	T	9: 26,889,750 (GRCm39)	F315I	probably damaging	Het
Adcy5	A	G	16: 35,118,904 (GRCm39)	Y1085C	probably damaging	Het
Aldh1a7	T	C	19: 20,693,382 (GRCm39)	K179R	probably damaging	Het
Arhgap10	C	T	8: 77,977,583 (GRCm39)	G776R	probably damaging	Het
Arhgap35	A	C	7: 16,296,491 (GRCm39)	F858C	probably damaging	Het
Ash1l	C	T	3: 88,984,381 (GRCm39)	R2957W	probably damaging	Het
Atp6ap1l	G	T	13: 91,031,848 (GRCm39)	A278E	probably damaging	Het
Btn1a1	A	T	13: 23,643,521 (GRCm39)	D309E	probably damaging	Het
Casd1	C	T	6: 4,624,211 (GRCm39)	R335C	probably benign	Het
Ceacam3	A	G	7: 16,885,487 (GRCm39)	Q30R		Het
Cfap20	C	T	8: 96,148,795 (GRCm39)	C119Y	probably damaging	Het
Cntrl	A	T	2: 35,055,457 (GRCm39)		probably null	Het
Crot	A	G	5: 9,037,878 (GRCm39)	V146A	probably damaging	Het
Cx3cl1	A	G	8: 95,506,591 (GRCm39)	S199G	probably damaging	Het
Ddhd1	A	T	14: 45,895,263 (GRCm39)	L69Q	probably damaging	Het
Dnah12	T	C	14: 26,583,689 (GRCm39)	F3195L	probably damaging	Het
Dpy19l3	A	T	7: 35,408,055 (GRCm39)	D450E	probably benign	Het
Ercc3	A	T	18: 32,390,325 (GRCm39)	N538I	probably damaging	Het
Fzd1	A	T	5: 4,806,145 (GRCm39)	V479E	probably benign	Het
Gart	T	C	16: 91,425,351 (GRCm39)	Y638C	possibly damaging	Het
Gm2381	C	A	7: 42,469,888 (GRCm39)	V79L	probably benign	Het
Gucy1b1	T	C	3: 81,950,469 (GRCm39)	Y312C	probably damaging	Het
Hecw1	T	A	13: 14,609,045 (GRCm39)	M1L	probably benign	Het
Ip6k2	A	G	9: 108,673,930 (GRCm39)	I99V	unknown	Het
Itgb5	C	T	16: 33,761,013 (GRCm39)	T616I	probably benign	Het
Kmt2c	A	C	5: 25,505,360 (GRCm39)	V3316G	possibly damaging	Het
Lama3	C	T	18: 12,601,346 (GRCm39)	R1008C	probably damaging	Het
Lin54	T	C	5: 100,633,159 (GRCm39)	D175G	possibly damaging	Het
Lrp2	A	G	2: 69,318,395 (GRCm39)	S2019P	probably damaging	Het
Lrrc9	A	G	12: 72,513,726 (GRCm39)	E528G	probably benign	Het
Lyz3	T	C	10: 117,073,647 (GRCm39)	N62S	probably benign	Het
Mto1	A	G	9: 78,364,565 (GRCm39)	H299R	probably damaging	Het
Myo19	G	A	11: 84,796,439 (GRCm39)	G684R	probably benign	Het
Or7g32	A	T	9: 19,408,145 (GRCm39)	M34L	probably benign	Het
Pcdh18	C	A	3: 49,709,143 (GRCm39)	C724F	probably benign	Het
Pcdha3	A	T	18: 37,080,165 (GRCm39)	K302N	probably benign	Het
Pcdhgb2	T	C	18: 37,825,300 (GRCm39)	F764L	possibly damaging	Het
Pik3cb	C	A	9: 98,975,143 (GRCm39)	G246W	probably damaging	Het
Polr2m	A	T	9: 71,390,626 (GRCm39)	I192N	probably damaging	Het
Polr2m	G	T	9: 71,390,815 (GRCm39)	T129K	probably benign	Het
Pramel48	A	G	5: 95,630,680 (GRCm39)	I186V	possibly damaging	Het
Ptpn4	C	T	1: 119,619,475 (GRCm39)		probably null	Het
Scgb1b19	A	T	7: 32,986,940 (GRCm39)	K30N	possibly damaging	Het
Shpk	A	G	11: 73,104,315 (GRCm39)	T155A	probably damaging	Het
Slit3	T	C	11: 35,461,546 (GRCm39)	Y261H	probably damaging	Het
Sox13	A	G	1: 133,313,243 (GRCm39)	F438L	possibly damaging	Het
Sphk1	A	T	11: 116,425,907 (GRCm39)	E61D	probably benign	Het
St18	A	G	1: 6,873,243 (GRCm39)	D326G	probably damaging	Het
Syde1	G	A	10: 78,422,032 (GRCm39)	Q566*	probably null	Het
Tacc2	A	G	7: 130,330,807 (GRCm39)	T254A	probably benign	Het
Tbc1d1	A	G	5: 64,330,827 (GRCm39)	E2G	probably damaging	Het
Trim5	A	T	7: 103,926,017 (GRCm39)	N181K	probably damaging	Het
Trpc7	A	T	13: 56,931,509 (GRCm39)	I730K	probably benign	Het
Uqcrc1	T	A	9: 108,776,926 (GRCm39)	M377K	probably benign	Het
Vmn2r4	T	C	3: 64,305,898 (GRCm39)	N508S	probably benign	Het
Vmp1	A	T	11: 86,477,402 (GRCm39)	S333T	probably benign	Het
Vps50	T	A	6: 3,578,854 (GRCm39)	M639K	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	Het

Other mutations in Or14c45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Or14c45	APN	7	86,175,986 (GRCm39)	missense	probably benign	0.10
IGL01823:Or14c45	APN	7	86,176,249 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Or14c45	UTSW	7	86,176,306 (GRCm39)	missense	possibly damaging	0.50
R0304:Or14c45	UTSW	7	86,176,195 (GRCm39)	missense	probably damaging	1.00
R0737:Or14c45	UTSW	7	86,176,195 (GRCm39)	missense	probably damaging	1.00
R2177:Or14c45	UTSW	7	86,176,870 (GRCm39)	missense	probably benign	0.01
R2436:Or14c45	UTSW	7	86,176,591 (GRCm39)	missense	probably damaging	0.99
R4289:Or14c45	UTSW	7	86,176,262 (GRCm39)	missense	probably damaging	1.00
R4639:Or14c45	UTSW	7	86,175,969 (GRCm39)	start codon destroyed	probably null	1.00
R5202:Or14c45	UTSW	7	86,176,324 (GRCm39)	missense	probably damaging	1.00
R5782:Or14c45	UTSW	7	86,176,421 (GRCm39)	missense	probably damaging	0.98
R6446:Or14c45	UTSW	7	86,176,310 (GRCm39)	missense	possibly damaging	0.90
R6615:Or14c45	UTSW	7	86,176,120 (GRCm39)	missense	probably benign	0.06
R6920:Or14c45	UTSW	7	86,176,522 (GRCm39)	missense	probably benign	0.00
R7309:Or14c45	UTSW	7	86,176,349 (GRCm39)	missense	probably damaging	1.00
R7621:Or14c45	UTSW	7	86,176,280 (GRCm39)	missense	probably benign	0.37
R8257:Or14c45	UTSW	7	86,176,678 (GRCm39)	missense	possibly damaging	0.95
R9349:Or14c45	UTSW	7	86,176,373 (GRCm39)	missense	probably benign	0.01
R9466:Or14c45	UTSW	7	86,176,080 (GRCm39)	missense	probably benign
R9479:Or14c45	UTSW	7	86,176,285 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CAGTTGACCAGACCCTGAAC -3'
(R):5'- AGTAAGCCTCAGCAAAGCAG -3'

Sequencing Primer
(F):5'- ATGTACTTCTTCCTCAGGAATCTG -3'
(R):5'- TCAGCAAAGCAGGCAGC -3'

Posted On

2019-05-15