Mutagenetix > Incidental Mutation

Incidental Mutation 'R7695:Or4k48'

593587

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

045758-MU

Accession Numbers

Essential gene?

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

Stock #

R7695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111475402-111476340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111475970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 124 (V124A)

Ref Sequence

ENSEMBL: ENSMUSP00000146343 (fasta)

Gene Model

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

AlphaFold

Q8VGE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000119566
AA Change: V124A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208284
AA Change: V124A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,415,487 (GRCm39)	V689A	possibly damaging	Het
Casp12	A	G	9: 5,353,641 (GRCm39)	E225G	probably damaging	Het
Ccdc39	A	G	3: 33,868,668 (GRCm39)	L806P	probably damaging	Het
Ccnd3	T	A	17: 47,908,421 (GRCm39)	I164N	probably damaging	Het
Cd209b	A	G	8: 3,976,005 (GRCm39)	V52A	probably benign	Het
Celsr2	G	A	3: 108,310,069 (GRCm39)	R1554W	probably damaging	Het
Cnot1	A	T	8: 96,497,260 (GRCm39)	I239N	probably benign	Het
Csmd3	A	T	15: 47,683,777 (GRCm39)	V948D		Het
Dnmt1	C	A	9: 20,825,281 (GRCm39)	G1061V	probably null	Het
Dpysl4	A	G	7: 138,666,039 (GRCm39)	M1V	probably null	Het
Elp5	T	C	11: 69,860,327 (GRCm39)	T227A	probably benign	Het
Exosc1	G	A	19: 41,916,519 (GRCm39)	H86Y	possibly damaging	Het
Foxn4	G	T	5: 114,394,648 (GRCm39)	D426E	probably damaging	Het
Gabbr2	A	G	4: 46,875,687 (GRCm39)	L145P	probably damaging	Het
Gkn3	A	G	6: 87,361,422 (GRCm39)	Y126H	probably damaging	Het
Gm16506	A	G	14: 43,962,463 (GRCm39)	F148S		Het
Gm3558	A	G	14: 19,121,623 (GRCm39)	I76T	probably benign	Het
Gm49359	A	G	13: 62,604,558 (GRCm39)	F45S	possibly damaging	Het
Gpc5	A	T	14: 115,330,026 (GRCm39)	H63L	unknown	Het
H2bl1	T	C	13: 99,120,766 (GRCm39)	T87A	probably damaging	Het
Hbs1l	A	T	10: 21,175,116 (GRCm39)	D28V	possibly damaging	Het
Ide	G	A	19: 37,306,435 (GRCm39)	H113Y		Het
Igkv3-3	A	T	6: 70,664,295 (GRCm39)	S46C	probably damaging	Het
Igsf10	A	T	3: 59,233,612 (GRCm39)	V1707D	probably damaging	Het
Kcna5	A	T	6: 126,511,174 (GRCm39)	V318E	probably damaging	Het
Kdm3b	T	C	18: 34,927,612 (GRCm39)	F158S	possibly damaging	Het
Lrrc14b	T	A	13: 74,511,297 (GRCm39)	D261V	possibly damaging	Het
Lrrc71	T	A	3: 87,646,769 (GRCm39)	I485F	probably damaging	Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Mast1	A	G	8: 85,647,557 (GRCm39)	V560A	probably damaging	Het
Mfap4	A	T	11: 61,376,545 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,650,936 (GRCm39)	I1637T	probably benign	Het
Neo1	A	T	9: 58,810,212 (GRCm39)	F1080I	possibly damaging	Het
Or1e17	T	A	11: 73,831,720 (GRCm39)	V216E	possibly damaging	Het
Or4x6	A	G	2: 89,949,207 (GRCm39)	V245A	probably benign	Het
Or51a25	T	C	7: 102,372,866 (GRCm39)	H277R	probably benign	Het
Pax2	A	G	19: 44,821,638 (GRCm39)	Y318C	probably damaging	Het
Pcnx4	A	T	12: 72,588,350 (GRCm39)	M53L	probably benign	Het
Pkd2l2	T	A	18: 34,561,298 (GRCm39)	D435E	possibly damaging	Het
Plec	G	A	15: 76,068,055 (GRCm39)	Q1117*	probably null	Het
Ppp2r2c	T	C	5: 37,104,526 (GRCm39)	L302P	probably damaging	Het
Prex2	T	C	1: 11,232,497 (GRCm39)	F855L	probably benign	Het
Reg3d	A	T	6: 78,354,119 (GRCm39)	W103R	probably benign	Het
Rnf216	A	C	5: 143,071,659 (GRCm39)	H440Q	possibly damaging	Het
Scn2a	A	G	2: 65,542,251 (GRCm39)	T785A	probably damaging	Het
Sh3pxd2a	T	A	19: 47,256,270 (GRCm39)	Y844F	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spp1	T	C	5: 104,583,009 (GRCm39)		probably benign	Het
Tacc2	T	A	7: 130,330,633 (GRCm39)	S196T	probably benign	Het
Thrap3	G	A	4: 126,073,891 (GRCm39)	S285L	probably damaging	Het
Ttn	T	A	2: 76,666,305 (GRCm39)	R11584*	probably null	Het
Ubap2	A	G	4: 41,211,740 (GRCm39)	S341P	probably damaging	Het
Upf3a	T	G	8: 13,848,279 (GRCm39)	S358R	probably benign	Het
Zdbf2	T	A	1: 63,346,529 (GRCm39)	I1636N	possibly damaging	Het
Zfp946	C	A	17: 22,674,002 (GRCm39)	T252N	probably benign	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
R4766:Or4k48	UTSW	2	111,476,226 (GRCm39)	missense	probably benign
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
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'- TGGGAATCCATGCAGGCTAG -3'
(R):5'- GTACTTCTTGTTGGCAAACCTATC -3'

Sequencing Primer
(F):5'- CAGGCTAGCTTAATTACCAGTGGC -3'
(R):5'- GGCAAACCTATCCTTTGTTGACATG -3'

Posted On

2019-11-12