Mutagenetix > Incidental Mutation

Incidental Mutation 'R6037:Or14c44'

479259

Institutional Source

Beutler Lab

Gene Symbol

Or14c44

Ensembl Gene

ENSMUSG00000061549

Gene Name

olfactory receptor family 14 subfamily C member 44

Synonyms

GA_x6K02T2NHDJ-9695951-9695766, Olfr302, Olfr1531-ps1, Olfr301, GA_x6K02T2NHDJ-9693313-9692378, MOR221-4, MOR221-1P, MOR221-1P, MOR211-8P

MMRRC Submission

043258-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86053057-86062507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86062478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 303 (L303F)

Ref Sequence

ENSEMBL: ENSMUSP00000133780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174362]

AlphaFold

Q7TS04

Predicted Effect

probably benign
Transcript: ENSMUST00000174362
AA Change: L303F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133780
Gene: ENSMUSG00000061549
AA Change: L303F

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
Pfam:7tm_1	39	289	2e-28	PFAM
Pfam:7tm_4	137	282	1.1e-40	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.4%
20x: 72.6%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abi2	C	A	1: 60,503,738 (GRCm39)	P212T	probably damaging	Het
Ano4	A	G	10: 89,153,108 (GRCm39)	F68S	possibly damaging	Het
Art5	C	A	7: 101,747,591 (GRCm39)	A63S	probably benign	Het
Asgr1	T	A	11: 69,947,247 (GRCm39)	S96R	probably benign	Het
Bdp1	A	T	13: 100,163,957 (GRCm39)	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 135,998,705 (GRCm39)	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,390,738 (GRCm39)	K357E	probably damaging	Het
Cdhr18	T	C	14: 13,864,282 (GRCm38)	N348S	probably damaging	Het
Cfap52	C	T	11: 67,837,126 (GRCm39)	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,456,965 (GRCm39)	F249S	probably damaging	Het
Ece2	A	G	16: 20,449,112 (GRCm39)	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,871,760 (GRCm39)	T425I	probably damaging	Het
Eprs1	A	G	1: 185,128,306 (GRCm39)	E562G	probably damaging	Het
Fbn2	T	C	18: 58,177,295 (GRCm39)	T2001A	probably benign	Het
Flt4	G	A	11: 49,527,867 (GRCm39)	R940H	probably damaging	Het
Fry	T	A	5: 150,351,644 (GRCm39)	M1716K	probably benign	Het
Gm10684	T	A	9: 45,019,039 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,311,416 (GRCm39)	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Il23r	C	T	6: 67,455,938 (GRCm39)	V177M	probably damaging	Het
Klf12	T	C	14: 100,137,650 (GRCm39)	S299G	probably benign	Het
Lama5	G	A	2: 179,848,806 (GRCm39)	R265C	probably damaging	Het
Lifr	A	G	15: 7,216,424 (GRCm39)	T800A	probably damaging	Het
Megf8	T	C	7: 25,063,831 (GRCm39)	L2729P	probably damaging	Het
Mki67	A	C	7: 135,298,532 (GRCm39)	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,534,032 (GRCm39)	K400E	probably damaging	Het
Nomo1	T	A	7: 45,712,423 (GRCm39)	I656N	possibly damaging	Het
Oas3	T	C	5: 120,907,384 (GRCm39)	T418A	probably benign	Het
Olr1	A	G	6: 129,470,504 (GRCm39)	L221P	probably damaging	Het
Or5m9	T	C	2: 85,876,928 (GRCm39)	M34T	probably benign	Het
Or8b3	T	A	9: 38,314,601 (GRCm39)	C144S	probably benign	Het
Or8g22	A	G	9: 38,958,403 (GRCm39)	V104A	probably damaging	Het
Or8k28	T	A	2: 86,286,133 (GRCm39)	I161L	probably benign	Het
Pih1d1	C	T	7: 44,805,738 (GRCm39)	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,703,967 (GRCm39)	S656R	probably damaging	Het
Polr3f	A	G	2: 144,377,943 (GRCm39)	D171G	probably damaging	Het
Rasal1	T	C	5: 120,787,566 (GRCm39)	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,063,595 (GRCm39)	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,502,240 (GRCm39)	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,066,499 (GRCm39)	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 63,989,150 (GRCm39)	Q30K	probably benign	Het
Vmn2r125	C	A	4: 156,703,396 (GRCm39)	A258D	probably benign	Het
Wipf2	C	T	11: 98,787,005 (GRCm39)	P345S	probably benign	Het
Zeb2	G	T	2: 44,878,652 (GRCm39)	S1170*	probably null	Het
Zfp947	A	G	17: 22,366,415 (GRCm39)	Y38H	probably damaging	Het

Other mutations in Or14c44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Or14c44	APN	7	86,061,998 (GRCm39)	missense	probably damaging	1.00
IGL01459:Or14c44	APN	7	86,061,759 (GRCm39)	missense	probably damaging	1.00
IGL01538:Or14c44	APN	7	86,062,167 (GRCm39)	missense	possibly damaging	0.80
IGL01547:Or14c44	APN	7	86,062,079 (GRCm39)	missense	possibly damaging	0.94
R0918:Or14c44	UTSW	7	86,062,403 (GRCm39)	missense	probably benign	0.01
R1559:Or14c44	UTSW	7	86,061,575 (GRCm39)	missense	probably benign	0.00
R1651:Or14c44	UTSW	7	86,057,078 (GRCm39)	utr 5 prime	probably benign
R2411:Or14c44	UTSW	7	86,062,290 (GRCm39)	missense	possibly damaging	0.51
R3732:Or14c44	UTSW	7	86,061,841 (GRCm39)	missense	probably damaging	0.98
R3832:Or14c44	UTSW	7	86,062,401 (GRCm39)	missense	probably damaging	1.00
R5175:Or14c44	UTSW	7	86,062,254 (GRCm39)	missense	probably benign	0.00
R5372:Or14c44	UTSW	7	86,062,176 (GRCm39)	missense	possibly damaging	0.66
R5413:Or14c44	UTSW	7	86,061,675 (GRCm39)	missense	probably benign
R5520:Or14c44	UTSW	7	86,062,064 (GRCm39)	missense	probably benign	0.02
R5579:Or14c44	UTSW	7	86,061,934 (GRCm39)	nonsense	probably null
R6037:Or14c44	UTSW	7	86,062,478 (GRCm39)	missense	probably benign	0.02
R7251:Or14c44	UTSW	7	86,062,209 (GRCm39)	missense	probably benign
R7340:Or14c44	UTSW	7	86,061,957 (GRCm39)	missense	possibly damaging	0.92
R7860:Or14c44	UTSW	7	86,057,119 (GRCm39)	start gained	probably benign
R8305:Or14c44	UTSW	7	86,061,987 (GRCm39)	missense	probably damaging	1.00
R8338:Or14c44	UTSW	7	86,061,702 (GRCm39)	missense	probably benign	0.14
R8487:Or14c44	UTSW	7	86,061,647 (GRCm39)	missense	probably benign	0.34
R8799:Or14c44	UTSW	7	86,061,854 (GRCm39)	missense	probably damaging	1.00
R9342:Or14c44	UTSW	7	86,062,430 (GRCm39)	missense	probably benign	0.37
Z1176:Or14c44	UTSW	7	86,061,906 (GRCm39)	missense	probably benign	0.16

Predicted Primers

Posted On

2017-06-26