Mutagenetix > Incidental Mutation

Incidental Mutation 'R8257:Or14c45'

640513

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

067683-MU

Accession Numbers

Essential gene?

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

Stock #

R8257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86175967-86176899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86176678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 238 (T238A)

Ref Sequence

ENSEMBL: ENSMUSP00000132942 (fasta)

Gene Model

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

AlphaFold

Q7TS07

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071112
AA Change: T238A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132942
Gene: ENSMUSG00000057067
AA Change: T238A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,153 (GRCm39)	K1350R	probably benign	Het
4933407L21Rik	T	A	1: 85,859,060 (GRCm39)	C70*	probably null	Het
Akr1c6	G	A	13: 4,488,525 (GRCm39)	V97I	probably benign	Het
Alg9	A	T	9: 50,690,387 (GRCm39)	I130F	possibly damaging	Het
Ankle2	G	T	5: 110,401,781 (GRCm39)		probably null	Het
Ankrd34a	A	T	3: 96,505,045 (GRCm39)	H83L	possibly damaging	Het
Aoc1l2	A	G	6: 48,909,431 (GRCm39)	T559A	probably benign	Het
Ate1	T	C	7: 130,069,037 (GRCm39)	Y367C	probably damaging	Het
Atg9b	C	T	5: 24,591,303 (GRCm39)		probably benign	Het
Atp2c1	A	G	9: 105,308,756 (GRCm39)	S626P	probably benign	Het
Ccdc171	A	G	4: 83,614,606 (GRCm39)	N1069S	probably damaging	Het
Cdh20	A	G	1: 104,921,962 (GRCm39)	D753G	probably benign	Het
Cdk11b	A	G	4: 155,732,398 (GRCm39)	E517G	unknown	Het
Chst5	A	T	8: 112,617,092 (GRCm39)	V176E	probably damaging	Het
Ddx50	T	C	10: 62,452,299 (GRCm39)		probably benign	Het
Dspp	A	G	5: 104,324,867 (GRCm39)	D410G	probably benign	Het
Dync1h1	T	A	12: 110,602,908 (GRCm39)	V2183E	probably damaging	Het
Emilin2	A	G	17: 71,580,995 (GRCm39)	V577A	probably benign	Het
Entpd2	T	A	2: 25,288,133 (GRCm39)	L119Q	probably damaging	Het
Foxa1	A	T	12: 57,589,932 (GRCm39)	M96K	probably benign	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
H2-Aa	T	C	17: 34,502,211 (GRCm39)	T237A	probably damaging	Het
Itih4	G	A	14: 30,609,825 (GRCm39)	V52I	possibly damaging	Het
Kntc1	T	C	5: 123,896,586 (GRCm39)		probably null	Het
Lgi4	A	T	7: 30,766,766 (GRCm39)		probably null	Het
Map4k2	G	A	19: 6,396,030 (GRCm39)	R455H	probably benign	Het
Masp2	A	G	4: 148,687,497 (GRCm39)	T95A	possibly damaging	Het
Mtmr12	T	C	15: 12,259,684 (GRCm39)	I351T	possibly damaging	Het
Ncdn	A	G	4: 126,643,676 (GRCm39)		probably null	Het
Nckipsd	A	G	9: 108,692,127 (GRCm39)	E516G	probably benign	Het
Nlrp12	A	G	7: 3,297,962 (GRCm39)	W70R	probably damaging	Het
Nmral1	T	A	16: 4,534,267 (GRCm39)	D58V	probably damaging	Het
Nr2c1	A	G	10: 94,028,769 (GRCm39)	Y522C	probably damaging	Het
Or1e23	A	G	11: 73,407,203 (GRCm39)	M274T	probably benign	Het
Or2d3b	A	G	7: 106,513,926 (GRCm39)	I174V	probably benign	Het
Or2w1b	A	G	13: 21,300,543 (GRCm39)	N227S	probably benign	Het
Pcdhga6	T	A	18: 37,841,868 (GRCm39)	N529K	probably benign	Het
Pkmyt1	C	T	17: 23,953,148 (GRCm39)	R235W	probably benign	Het
Prss43	T	C	9: 110,659,880 (GRCm39)	S315P	possibly damaging	Het
Psmd1	T	A	1: 86,006,345 (GRCm39)	V237E	probably damaging	Het
Ptprf	A	G	4: 118,083,476 (GRCm39)	Y844H	probably damaging	Het
Ryr1	C	T	7: 28,764,064 (GRCm39)	V3089I	possibly damaging	Het
Slc1a7	A	G	4: 107,865,394 (GRCm39)	D294G	possibly damaging	Het
Slc5a10	T	A	11: 61,605,873 (GRCm39)	T148S	probably damaging	Het
Spata25	T	C	2: 164,669,690 (GRCm39)	D107G	possibly damaging	Het
Stambpl1	A	G	19: 34,208,901 (GRCm39)	E132G	probably damaging	Het
Tgfb1	A	G	7: 25,396,373 (GRCm39)	H222R	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trmt1l	T	A	1: 151,304,629 (GRCm39)	M1K	probably null	Het
Vmn2r86	A	T	10: 130,288,279 (GRCm39)	H407Q	possibly damaging	Het
Wdr36	T	A	18: 32,974,339 (GRCm39)		probably benign	Het
Zfp35	T	A	18: 24,137,288 (GRCm39)	I544N	possibly damaging	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
R7150:Or14c45	UTSW	7	86,176,322 (GRCm39)	missense	probably damaging	1.00
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
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'- GCTGAGGCTTACTTGCTCTG -3'
(R):5'- GCATGTGCAGATTTGTATGTCC -3'

Sequencing Primer
(F):5'- GAGGCTTACTTGCTCTGACACC -3'
(R):5'- ATCTGAATATTACTTTCTTCACAGCC -3'

Posted On

2020-07-28