Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Or4k48'

366120

Institutional Source

Beutler Lab

Gene Symbol

Or4k48

Ensembl Gene

ENSMUSG00000109487

Gene Name

olfactory receptor family 4 subfamily K member 48

Synonyms

Olfr1298, GA_x6K02T2Q125-72697413-72696475, MOR248-6

MMRRC Submission

042407-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111475402-111476340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111476226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 39 (M39V)

Ref Sequence

ENSEMBL: ENSMUSP00000146343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119566] [ENSMUST00000208284]

AlphaFold

Q8VGE6

Predicted Effect

probably benign
Transcript: ENSMUST00000090322
AA Change: M39V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099610
Gene: ENSMUSG00000096853
AA Change: M39V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	6.7e-48	PFAM
Pfam:7tm_1	41	287	1.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119566
AA Change: M39V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208284
AA Change: M39V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,245,502 (GRCm39)	V1584I	probably benign	Het
Adamts12	A	G	15: 11,285,987 (GRCm39)	D732G	probably benign	Het
Agpat4	A	G	17: 12,370,637 (GRCm39)		probably benign	Het
AI182371	T	C	2: 34,985,829 (GRCm39)	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,519,133 (GRCm39)	T316S	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bard1	T	C	1: 71,114,333 (GRCm39)	E216G	probably benign	Het
Bdp1	C	A	13: 100,186,376 (GRCm39)	R1692L	probably damaging	Het
Capn10	T	C	1: 92,871,141 (GRCm39)	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,158,979 (GRCm39)	M653I	probably benign	Het
Ccdc9b	C	A	2: 118,590,058 (GRCm39)	R262L	probably damaging	Het
Ccr8	G	A	9: 119,923,530 (GRCm39)	C215Y	probably damaging	Het
Cct3	T	A	3: 88,219,092 (GRCm39)	L241*	probably null	Het
Cd2ap	A	T	17: 43,163,350 (GRCm39)	I25N	probably damaging	Het
Cdh19	T	C	1: 110,820,990 (GRCm39)	K583E	probably benign	Het
Cela3a	A	G	4: 137,129,986 (GRCm39)	S212P	unknown	Het
Cfap44	T	A	16: 44,236,246 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,455,473 (GRCm39)	L440Q	probably damaging	Het
Crybg2	A	G	4: 133,816,663 (GRCm39)	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,445,188 (GRCm39)	D1501G	probably benign	Het
Eml6	C	A	11: 29,755,757 (GRCm39)	L832F	probably benign	Het
Enpp3	A	G	10: 24,649,825 (GRCm39)	L867P	probably damaging	Het
Erbb3	A	G	10: 128,422,107 (GRCm39)	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,033,384 (GRCm39)	I342T	possibly damaging	Het
Flvcr1	A	T	1: 190,753,303 (GRCm39)	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191 (GRCm39)		probably benign	Het
Gad2	C	T	2: 22,512,679 (GRCm39)	A2V	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Herc1	T	G	9: 66,349,211 (GRCm39)	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,649,801 (GRCm39)	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Iqcf3	A	G	9: 106,438,148 (GRCm39)		probably null	Het
Kcna4	G	A	2: 107,126,888 (GRCm39)	V541M	probably damaging	Het
Kcnj11	T	C	7: 45,749,240 (GRCm39)	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,236,016 (GRCm39)	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,374,535 (GRCm39)		probably benign	Het
Krt1c	T	C	15: 101,722,395 (GRCm39)	E430G	probably damaging	Het
Lins1	C	T	7: 66,360,389 (GRCm39)	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mfge8	T	C	7: 78,784,273 (GRCm39)	N389D	probably damaging	Het
Mug1	C	T	6: 121,861,213 (GRCm39)	T1278I	probably benign	Het
Myh9	T	C	15: 77,692,077 (GRCm39)	M161V	probably damaging	Het
Myl7	T	A	11: 5,848,171 (GRCm39)	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,096,706 (GRCm39)		unknown	Het
Nol3	A	G	8: 106,008,565 (GRCm39)		probably null	Het
Nup85	T	A	11: 115,468,751 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,903,568 (GRCm39)	T7619S	probably damaging	Het
Or2t49	T	A	11: 58,392,494 (GRCm39)	N296I	probably damaging	Het
Or52a24	C	T	7: 103,381,457 (GRCm39)	T108I	possibly damaging	Het
Or7g26	G	A	9: 19,230,141 (GRCm39)	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494 (GRCm39)	I184F	probably damaging	Het
Pcdha7	T	A	18: 37,107,560 (GRCm39)	V195D	probably damaging	Het
Phf3	A	T	1: 30,853,020 (GRCm39)		probably benign	Het
Pla2g15	G	T	8: 106,889,703 (GRCm39)	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,880,043 (GRCm39)	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016 (GRCm39)	I965V	probably benign	Het
Ptpru	A	G	4: 131,548,275 (GRCm39)	V74A	probably damaging	Het
Rif1	T	A	2: 51,988,946 (GRCm39)	Y780N	probably damaging	Het
Rps25	T	A	9: 44,320,046 (GRCm39)	Y23N	possibly damaging	Het
Ryr1	T	C	7: 28,785,258 (GRCm39)	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,359,319 (GRCm39)		probably null	Het
Senp1	T	C	15: 97,943,777 (GRCm39)	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,260,811 (GRCm39)	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,857,635 (GRCm39)	T836M	probably benign	Het
Slfn4	T	G	11: 83,077,647 (GRCm39)	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,595,254 (GRCm39)	T377I	probably benign	Het
Spdye4b	T	C	5: 143,182,089 (GRCm39)	F129S	probably damaging	Het
Sspo	G	A	6: 48,447,514 (GRCm39)	G2360E	probably benign	Het
Taar2	A	T	10: 23,816,669 (GRCm39)	I70F	probably damaging	Het
Taar7e	A	G	10: 23,914,464 (GRCm39)	N318S	probably damaging	Het
Tor1a	C	A	2: 30,857,742 (GRCm39)	R42L	probably benign	Het
Trdn	A	T	10: 33,350,502 (GRCm39)	Q690H	probably benign	Het
Trim56	C	A	5: 137,141,579 (GRCm39)	V646L	probably benign	Het
Tspan15	T	A	10: 62,027,323 (GRCm39)	K165I	probably benign	Het
Usp24	A	G	4: 106,273,245 (GRCm39)	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307 (GRCm39)	T76A	probably damaging	Het
Vps13c	T	A	9: 67,785,506 (GRCm39)		probably null	Het
Zfp512b	T	C	2: 181,226,888 (GRCm39)		probably benign	Het
Zyx	C	A	6: 42,333,093 (GRCm39)		probably null	Het

Other mutations in Or4k48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Or4k48	APN	2	111,475,601 (GRCm39)	missense	probably damaging	1.00
IGL01571:Or4k48	APN	2	111,475,725 (GRCm39)	missense	probably benign	0.00
IGL02605:Or4k48	APN	2	111,475,850 (GRCm39)	missense	probably benign	0.00
IGL02652:Or4k48	APN	2	111,475,839 (GRCm39)	missense	probably benign	0.16
IGL02669:Or4k48	APN	2	111,476,236 (GRCm39)	nonsense	probably null
R0197:Or4k48	UTSW	2	111,476,136 (GRCm39)	missense	probably benign	0.00
R0701:Or4k48	UTSW	2	111,476,136 (GRCm39)	missense	probably benign	0.00
R0883:Or4k48	UTSW	2	111,476,136 (GRCm39)	missense	probably benign	0.00
R1563:Or4k48	UTSW	2	111,476,027 (GRCm39)	missense	probably damaging	1.00
R1567:Or4k48	UTSW	2	111,476,271 (GRCm39)	missense	possibly damaging	0.92
R1740:Or4k48	UTSW	2	111,476,214 (GRCm39)	missense	probably damaging	0.97
R2142:Or4k48	UTSW	2	111,475,566 (GRCm39)	missense	probably benign	0.04
R3949:Or4k48	UTSW	2	111,475,871 (GRCm39)	missense	possibly damaging	0.67
R4924:Or4k48	UTSW	2	111,476,121 (GRCm39)	missense	possibly damaging	0.87
R7320:Or4k48	UTSW	2	111,476,297 (GRCm39)	missense	probably benign	0.03
R7695:Or4k48	UTSW	2	111,475,970 (GRCm39)	missense	probably damaging	1.00
R7961:Or4k48	UTSW	2	111,476,282 (GRCm39)	missense	probably damaging	0.97
R8549:Or4k48	UTSW	2	111,479,512 (GRCm39)	start gained	probably benign
R8958:Or4k48	UTSW	2	111,476,070 (GRCm39)	missense	possibly damaging	0.93
R9444:Or4k48	UTSW	2	111,476,132 (GRCm39)	missense	probably damaging	1.00
R9744:Or4k48	UTSW	2	111,475,664 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGCAAAGGAAATGGTCTTG -3'
(R):5'- TTCAGGTGAGTTCTAATATGGATGC -3'

Sequencing Primer
(F):5'- CCTGCAAAGGAAATGGTCTTGTTTTC -3'
(R):5'- TGGATGCCTAATTTTACAAACGAAG -3'

Posted On

2015-12-21