Mutagenetix > Incidental Mutation

Incidental Mutation 'R1556:Or4k15c'

170296

Institutional Source

Beutler Lab

Gene Symbol

Or4k15c

Ensembl Gene

ENSMUSG00000060523

Gene Name

olfactory receptor family 4 subfamily K member 15C

Synonyms

MOR246-4, GA_x6K02T2PMLR-5775299-5774334, Olfr726

MMRRC Submission

039595-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R1556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50321171-50322136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50321916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 74 (A74V)

Ref Sequence

ENSEMBL: ENSMUSP00000149373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072370] [ENSMUST00000206834] [ENSMUST00000213345] [ENSMUST00000215105] [ENSMUST00000215278] [ENSMUST00000217025] [ENSMUST00000217422] [ENSMUST00000217319]

AlphaFold

E9Q8X3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072370
AA Change: A74V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: A74V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.3e-47	PFAM
Pfam:7TM_GPCR_Srsx	36	288	5.4e-8	PFAM
Pfam:7tm_1	41	287	7.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205951
AA Change: A74V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206834
AA Change: A74V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213345
AA Change: A74V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215105
AA Change: A74V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215278
AA Change: A74V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217025
AA Change: A74V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217422
AA Change: A74V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217319
AA Change: A74V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

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
1700030K09Rik	T	C	8: 73,203,477 (GRCm39)	S302P	probably damaging	Het
Anapc1	T	C	2: 128,466,819 (GRCm39)	T1626A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arid5a	T	A	1: 36,359,245 (GRCm39)	Y520*	probably null	Het
Aven	G	A	2: 112,461,230 (GRCm39)	M215I	probably damaging	Het
Cabyr	A	G	18: 12,877,837 (GRCm39)	D58G	probably damaging	Het
Ccdc146	A	G	5: 21,535,551 (GRCm39)	Y168H	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cd68	T	A	11: 69,556,676 (GRCm39)	T44S	probably damaging	Het
Clstn2	A	T	9: 97,338,558 (GRCm39)	I867N	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Col6a6	A	G	9: 105,586,672 (GRCm39)	V1783A	possibly damaging	Het
Dach2	T	C	X: 112,208,214 (GRCm39)	S31P	probably benign	Het
Dpp8	T	A	9: 64,958,761 (GRCm39)	W279R	probably damaging	Het
Fras1	A	T	5: 96,890,921 (GRCm39)	I2817F	possibly damaging	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gdf7	T	C	12: 8,351,698 (GRCm39)	N79S	unknown	Het
Gpam	A	G	19: 55,064,763 (GRCm39)	V647A	possibly damaging	Het
Gpatch1	T	C	7: 34,994,776 (GRCm39)	T497A	probably benign	Het
Grin2a	A	T	16: 9,525,579 (GRCm39)	F337L	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2-Aa	A	T	17: 34,503,390 (GRCm39)	V69D	possibly damaging	Het
H2-M10.5	T	C	17: 37,084,205 (GRCm39)	Y56H	probably damaging	Het
Kcnu1	G	A	8: 26,351,219 (GRCm39)		probably null	Het
Krt77	A	G	15: 101,769,713 (GRCm39)	S386P	probably damaging	Het
L3mbtl2	T	A	15: 81,566,203 (GRCm39)	M342K	probably benign	Het
Ldlrad1	A	G	4: 107,075,010 (GRCm39)	T186A	probably benign	Het
Lins1	C	A	7: 66,360,385 (GRCm39)	C168*	probably null	Het
Lrrtm3	G	A	10: 63,923,928 (GRCm39)	T413M	probably damaging	Het
Macf1	T	C	4: 123,348,813 (GRCm39)	D4038G	probably damaging	Het
Mark3	T	G	12: 111,594,275 (GRCm39)	N308K	probably damaging	Het
Mdga2	T	A	12: 66,597,367 (GRCm39)	Y709F	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or1p1	T	A	11: 74,179,762 (GRCm39)	C97S	probably damaging	Het
Or51a24	T	A	7: 103,733,468 (GRCm39)	H273L	probably benign	Het
Or6c76	T	C	10: 129,612,242 (GRCm39)	V168A	probably benign	Het
Ovgp1	A	G	3: 105,894,068 (GRCm39)		probably benign	Het
P4ha2	A	G	11: 54,015,836 (GRCm39)	T408A	probably damaging	Het
Pcdh8	T	G	14: 80,007,843 (GRCm39)	D240A	probably damaging	Het
Pcyt2	T	C	11: 120,502,911 (GRCm39)		probably null	Het
Pecr	T	A	1: 72,298,542 (GRCm39)	I293L	probably benign	Het
Pogk	A	G	1: 166,226,402 (GRCm39)	V583A	possibly damaging	Het
Prkg1	T	C	19: 30,602,143 (GRCm39)	K371R	probably benign	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rgs12	A	G	5: 35,196,626 (GRCm39)	R769G	possibly damaging	Het
Sgtb	T	A	13: 104,276,284 (GRCm39)	N237K	probably damaging	Het
Sh3bgrl2	T	C	9: 83,476,751 (GRCm39)	V91A	probably damaging	Het
Slc4a1ap	G	A	5: 31,691,554 (GRCm39)		probably null	Het
Slc4a7	T	C	14: 14,778,872 (GRCm38)	V940A	probably benign	Het
Tep1	T	C	14: 51,090,499 (GRCm39)	T740A	probably benign	Het
Tnk2	G	T	16: 32,489,737 (GRCm39)		probably null	Het
Trpv2	A	G	11: 62,483,059 (GRCm39)	Y450C	probably damaging	Het
Tut7	T	C	13: 59,948,054 (GRCm39)	T354A	probably benign	Het
Tvp23a	A	T	16: 10,264,862 (GRCm39)	D16E	probably damaging	Het
Twnk	T	C	19: 44,997,850 (GRCm39)	F460L	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Urb2	T	C	8: 124,757,356 (GRCm39)	L1021P	probably damaging	Het
Vps13c	T	C	9: 67,837,993 (GRCm39)	Y1848H	probably damaging	Het
Vwa8	T	G	14: 79,324,121 (GRCm39)	N1141K	probably benign	Het
Yipf3	A	G	17: 46,561,793 (GRCm39)	Y200C	probably damaging	Het
Zbtb38	A	G	9: 96,569,044 (GRCm39)	V680A	probably benign	Het
Znrf3	T	C	11: 5,231,347 (GRCm39)	E722G	probably benign	Het
Zzef1	T	A	11: 72,806,059 (GRCm39)	L2665H	probably damaging	Het

Other mutations in Or4k15c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Or4k15c	APN	14	50,321,454 (GRCm39)	missense	probably benign	0.00
IGL01432:Or4k15c	APN	14	50,321,404 (GRCm39)	missense	probably benign	0.07
IGL01788:Or4k15c	APN	14	50,321,959 (GRCm39)	missense	probably damaging	1.00
IGL01957:Or4k15c	APN	14	50,321,737 (GRCm39)	missense	probably benign	0.00
IGL02132:Or4k15c	APN	14	50,321,943 (GRCm39)	missense	probably damaging	1.00
R0611:Or4k15c	UTSW	14	50,321,310 (GRCm39)	missense	probably damaging	1.00
R0689:Or4k15c	UTSW	14	50,321,689 (GRCm39)	missense	probably benign	0.01
R1710:Or4k15c	UTSW	14	50,321,827 (GRCm39)	missense	probably benign	0.01
R1791:Or4k15c	UTSW	14	50,321,499 (GRCm39)	missense	probably benign	0.03
R1804:Or4k15c	UTSW	14	50,321,359 (GRCm39)	missense	probably damaging	0.99
R1853:Or4k15c	UTSW	14	50,321,577 (GRCm39)	missense	probably damaging	1.00
R2034:Or4k15c	UTSW	14	50,321,440 (GRCm39)	missense	probably benign	0.34
R3155:Or4k15c	UTSW	14	50,321,982 (GRCm39)	missense	probably benign	0.09
R3156:Or4k15c	UTSW	14	50,321,982 (GRCm39)	missense	probably benign	0.09
R3939:Or4k15c	UTSW	14	50,321,173 (GRCm39)	makesense	probably null
R4392:Or4k15c	UTSW	14	50,322,060 (GRCm39)	missense	probably benign	0.24
R4533:Or4k15c	UTSW	14	50,321,156 (GRCm39)	splice site	probably null
R4694:Or4k15c	UTSW	14	50,321,476 (GRCm39)	missense	probably benign
R5183:Or4k15c	UTSW	14	50,322,003 (GRCm39)	missense	probably damaging	0.99
R5859:Or4k15c	UTSW	14	50,321,484 (GRCm39)	missense	probably damaging	1.00
R6186:Or4k15c	UTSW	14	50,321,982 (GRCm39)	missense	probably damaging	0.98
R6357:Or4k15c	UTSW	14	50,321,446 (GRCm39)	missense	probably damaging	0.99
R6771:Or4k15c	UTSW	14	50,321,446 (GRCm39)	missense	probably damaging	0.99
R6834:Or4k15c	UTSW	14	50,321,685 (GRCm39)	missense	probably damaging	0.99
R6924:Or4k15c	UTSW	14	50,321,307 (GRCm39)	missense	possibly damaging	0.91
R7953:Or4k15c	UTSW	14	50,321,367 (GRCm39)	missense	possibly damaging	0.53
R8043:Or4k15c	UTSW	14	50,321,367 (GRCm39)	missense	possibly damaging	0.53
R8255:Or4k15c	UTSW	14	50,321,329 (GRCm39)	missense	noncoding transcript
R9444:Or4k15c	UTSW	14	50,321,869 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AGTGGAGGGGCTTACATATTGCAAC -3'
(R):5'- AACACAGCTATGAGGACCCAGTGC -3'

Sequencing Primer
(F):5'- GGGCTTACATATTGCAACATAGCG -3'
(R):5'- GTACTAGCATTCCCTGATTAAGGC -3'

Posted On

2014-04-13