Mutagenetix > Incidental Mutation

Incidental Mutation 'R6501:Or4k44'

519716

Institutional Source

Beutler Lab

Gene Symbol

Or4k44

Ensembl Gene

ENSMUSG00000109547

Gene Name

olfactory receptor family 4 subfamily K member 44

Synonyms

MOR248-7, GA_x6K02T2Q125-72589785-72588847, Olfr1294

MMRRC Submission

044633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R6501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111367694-111368632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111368124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 170 (G170D)

Ref Sequence

ENSEMBL: ENSMUSP00000146438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208334] [ENSMUST00000208675] [ENSMUST00000215245]

AlphaFold

Q8VGE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000208334
AA Change: G170D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208675
AA Change: G170D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215245

Meta Mutation Damage Score

0.6391

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,914,165 (GRCm39)	C154*	probably null	Het
Ada	A	G	2: 163,570,108 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,886,276 (GRCm39)	V535I	probably damaging	Het
Bptf	T	C	11: 106,968,509 (GRCm39)	N1058S	probably null	Het
Cdadc1	C	T	14: 59,823,898 (GRCm39)	C198Y	probably benign	Het
Chrna7	G	A	7: 62,755,863 (GRCm39)	R228C	probably damaging	Het
Cts6	T	C	13: 61,344,149 (GRCm39)	N301S	probably damaging	Het
Cts8	T	A	13: 61,398,756 (GRCm39)	D250V	probably damaging	Het
Cyp26a1	G	T	19: 37,687,518 (GRCm39)	R235L	possibly damaging	Het
Disc1	A	T	8: 125,944,844 (GRCm39)	M598L	probably benign	Het
Ear6	T	A	14: 52,091,681 (GRCm39)	V76D	possibly damaging	Het
Grifin	A	G	5: 140,549,036 (GRCm39)	*145R	probably null	Het
Htr2b	T	G	1: 86,038,363 (GRCm39)	E11A	probably damaging	Het
Krtap4-9	T	A	11: 99,676,255 (GRCm39)		probably benign	Het
Larp4b	A	C	13: 9,218,829 (GRCm39)	H522P	probably damaging	Het
Macf1	A	T	4: 123,363,425 (GRCm39)		probably null	Het
Mdfic	T	C	6: 15,770,516 (GRCm39)	L174P	possibly damaging	Het
Mmp17	A	G	5: 129,683,469 (GRCm39)	E535G	probably benign	Het
Nfxl1	A	T	5: 72,685,852 (GRCm39)		probably null	Het
Nynrin	A	T	14: 56,100,989 (GRCm39)	T260S	probably benign	Het
Or7e168	A	T	9: 19,720,271 (GRCm39)	Y219F	possibly damaging	Het
Or8b1c	A	T	9: 38,384,585 (GRCm39)	I181F	possibly damaging	Het
Pbx1	G	T	1: 168,037,103 (GRCm39)	D109E	probably damaging	Het
Pde4d	A	T	13: 109,253,476 (GRCm39)	H101L	probably benign	Het
Pdlim3	T	C	8: 46,361,639 (GRCm39)	I155T	possibly damaging	Het
Plekha5	T	A	6: 140,471,655 (GRCm39)	Y26*	probably null	Het
Prpf6	T	A	2: 181,263,713 (GRCm39)	L191*	probably null	Het
Rabl6	A	G	2: 25,492,459 (GRCm39)	V80A	possibly damaging	Het
Rp1	T	C	1: 4,381,503 (GRCm39)		probably benign	Het
Sec14l1	A	G	11: 117,047,676 (GRCm39)	S698G	probably damaging	Het
Skic2	A	G	17: 35,063,412 (GRCm39)	S622P	possibly damaging	Het
Slc19a1	G	A	10: 76,885,440 (GRCm39)	G447S	probably benign	Het
Slc2a6	A	T	2: 26,913,143 (GRCm39)	Y383*	probably null	Het
Slc9a9	C	A	9: 94,818,424 (GRCm39)	Q273K	probably benign	Het
Spint2	A	G	7: 28,963,131 (GRCm39)	Y56H	probably damaging	Het
Sspo	T	A	6: 48,472,146 (GRCm39)	M123K	possibly damaging	Het
Syne2	A	G	12: 76,074,621 (GRCm39)		probably null	Het
Trdn	A	C	10: 33,342,450 (GRCm39)	K619N	probably benign	Het
Ttll13	A	G	7: 79,899,924 (GRCm39)	T119A	possibly damaging	Het
Ttn	T	C	2: 76,615,990 (GRCm39)	Y8324C	probably damaging	Het
Ttn	T	C	2: 76,728,602 (GRCm39)		probably benign	Het
Vav2	A	G	2: 27,186,231 (GRCm39)	L208P	probably damaging	Het
Vmn1r179	A	G	7: 23,628,342 (GRCm39)	I178V	probably benign	Het
Vmn1r210	T	C	13: 23,011,705 (GRCm39)	M194V	possibly damaging	Het
Vmn2r103	A	T	17: 20,032,166 (GRCm39)	T647S	probably benign	Het
Wdr49	T	A	3: 75,246,765 (GRCm39)	H289L	probably benign	Het
Wnk2	T	G	13: 49,300,159 (GRCm39)	K184Q	probably damaging	Het
Zfp758	A	G	17: 22,590,978 (GRCm39)		probably benign	Het

Other mutations in Or4k44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Or4k44	APN	2	111,368,359 (GRCm39)	missense	probably damaging	1.00
IGL02304:Or4k44	APN	2	111,367,746 (GRCm39)	missense	probably benign	0.06
IGL02555:Or4k44	APN	2	111,368,262 (GRCm39)	missense	probably damaging	0.98
R0422:Or4k44	UTSW	2	111,368,328 (GRCm39)	missense	probably damaging	0.97
R0647:Or4k44	UTSW	2	111,367,704 (GRCm39)	missense	probably benign	0.00
R0656:Or4k44	UTSW	2	111,367,972 (GRCm39)	missense	probably damaging	1.00
R1543:Or4k44	UTSW	2	111,368,142 (GRCm39)	missense	probably benign	0.00
R1909:Or4k44	UTSW	2	111,368,359 (GRCm39)	missense	probably damaging	1.00
R3735:Or4k44	UTSW	2	111,368,241 (GRCm39)	missense	probably damaging	1.00
R4671:Or4k44	UTSW	2	111,368,280 (GRCm39)	missense	probably damaging	1.00
R4703:Or4k44	UTSW	2	111,368,113 (GRCm39)	missense	probably benign	0.03
R4809:Or4k44	UTSW	2	111,367,956 (GRCm39)	missense	probably benign	0.15
R4822:Or4k44	UTSW	2	111,367,797 (GRCm39)	missense	probably damaging	0.98
R4837:Or4k44	UTSW	2	111,368,319 (GRCm39)	missense	probably damaging	0.98
R4880:Or4k44	UTSW	2	111,367,698 (GRCm39)	nonsense	probably null
R5203:Or4k44	UTSW	2	111,367,981 (GRCm39)	missense	probably damaging	1.00
R5871:Or4k44	UTSW	2	111,367,984 (GRCm39)	missense	probably damaging	1.00
R5902:Or4k44	UTSW	2	111,367,739 (GRCm39)	missense	probably benign	0.00
R7354:Or4k44	UTSW	2	111,367,909 (GRCm39)	missense	possibly damaging	0.94
R7575:Or4k44	UTSW	2	111,368,597 (GRCm39)	missense	probably damaging	1.00
R7623:Or4k44	UTSW	2	111,368,281 (GRCm39)	missense	probably damaging	1.00
R7632:Or4k44	UTSW	2	111,368,521 (GRCm39)	missense	possibly damaging	0.87
R7845:Or4k44	UTSW	2	111,368,512 (GRCm39)	nonsense	probably null
R8130:Or4k44	UTSW	2	111,367,825 (GRCm39)	missense	probably damaging	1.00
R9056:Or4k44	UTSW	2	111,368,488 (GRCm39)	missense	probably benign	0.04
R9321:Or4k44	UTSW	2	111,368,434 (GRCm39)	missense	probably damaging	1.00
Z1088:Or4k44	UTSW	2	111,368,159 (GRCm39)	missense	possibly damaging	0.89
Z1176:Or4k44	UTSW	2	111,368,630 (GRCm39)	start codon destroyed	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCAAGTGTTCATTGCCTTAG -3'
(R):5'- TTGCTGCAGGAGAAATGGTG -3'

Sequencing Primer
(F):5'- GCCTTAGATGCACCAGCTTTAGAG -3'
(R):5'- CTGCAGGAGAAATGGTGCTGTTG -3'

Posted On

2018-06-06