Mutagenetix > Incidental Mutation

Incidental Mutation 'R0422:Or4k44'

37102

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

038624-MU

Accession Numbers

Essential gene?

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

Stock #

R0422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111367694-111368632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111368328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 102 (F102Y)

Ref Sequence

ENSEMBL: ENSMUSP00000146438 (fasta)

Gene Model

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

AlphaFold

Q8VGE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099614
AA Change: F102Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097209
Gene: ENSMUSG00000094000
AA Change: F102Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.7e-51	PFAM
Pfam:7tm_1	41	287	2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208334
AA Change: F102Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208675
AA Change: F102Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000215245

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	A	7: 119,372,963 (GRCm39)	Y155*	probably null	Het
Adamts16	A	G	13: 70,887,074 (GRCm39)	C937R	probably damaging	Het
Akna	T	C	4: 63,310,391 (GRCm39)	D451G	probably damaging	Het
Alox12	A	T	11: 70,145,384 (GRCm39)	V63E	probably damaging	Het
Ap3b1	T	C	13: 94,598,968 (GRCm39)	I514T	probably damaging	Het
Arhgap23	T	C	11: 97,354,478 (GRCm39)	M286T	probably damaging	Het
Cdkl2	T	C	5: 92,168,171 (GRCm39)	D341G	probably benign	Het
Clip2	T	C	5: 134,526,967 (GRCm39)	D813G	probably benign	Het
Cntnap3	A	G	13: 64,905,099 (GRCm39)	V894A	probably damaging	Het
Coro2b	T	A	9: 62,335,259 (GRCm39)	Y304F	probably benign	Het
Dclre1a	T	A	19: 56,532,567 (GRCm39)	K676*	probably null	Het
Dmxl2	A	G	9: 54,307,224 (GRCm39)		probably null	Het
Dpep3	A	G	8: 106,702,750 (GRCm39)		probably null	Het
Efna5	C	T	17: 62,914,414 (GRCm39)	A177T	probably benign	Het
Fabp1	G	A	6: 71,180,077 (GRCm39)	V83I	possibly damaging	Het
H2-DMa	G	T	17: 34,356,921 (GRCm39)	G140C	probably damaging	Het
Hectd4	T	A	5: 121,481,145 (GRCm39)		probably null	Het
Hyou1	T	A	9: 44,300,539 (GRCm39)	N869K	probably damaging	Het
Ing1	G	A	8: 11,611,933 (GRCm39)	V124I	probably damaging	Het
Kalrn	T	A	16: 34,134,643 (GRCm39)	I380F	probably damaging	Het
Kcnh1	A	G	1: 192,019,888 (GRCm39)	I378V	probably benign	Het
Kmt2c	A	G	5: 25,520,662 (GRCm39)	V1816A	probably benign	Het
Matn2	G	A	15: 34,435,917 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,297,621 (GRCm39)	S805N	probably benign	Het
Napsa	A	C	7: 44,234,530 (GRCm39)	Q254P	probably damaging	Het
Nat10	G	T	2: 103,557,074 (GRCm39)	S860*	probably null	Het
Nipbl	T	C	15: 8,381,112 (GRCm39)	D560G	probably benign	Het
Nr3c2	A	G	8: 77,912,596 (GRCm39)	M736V	probably benign	Het
Or7e174	A	T	9: 20,012,744 (GRCm39)	R230*	probably null	Het
Or8u8	A	T	2: 86,011,566 (GRCm39)	D296E	probably benign	Het
Palm3	A	G	8: 84,755,492 (GRCm39)	S335G	possibly damaging	Het
Panx1	G	T	9: 14,919,112 (GRCm39)	S249*	probably null	Het
Parvb	A	G	15: 84,179,812 (GRCm39)	T231A	probably benign	Het
Pcdhb11	G	T	18: 37,554,923 (GRCm39)	L84F	probably damaging	Het
Pi4k2b	T	C	5: 52,925,096 (GRCm39)	*447Q	probably null	Het
Ppp1r1a	A	G	15: 103,440,783 (GRCm39)	S125P	probably benign	Het
Prss1	T	A	6: 41,440,246 (GRCm39)	D194E	probably damaging	Het
Rnf216	A	T	5: 143,001,409 (GRCm39)	C772*	probably null	Het
Rnf216	A	T	5: 143,076,125 (GRCm39)	F253Y	probably benign	Het
Rsf1	A	T	7: 97,330,024 (GRCm39)	E1183D	probably benign	Het
Rusc1	T	C	3: 88,994,132 (GRCm39)	T958A	probably benign	Het
Rxfp1	A	G	3: 79,558,038 (GRCm39)	M480T	probably benign	Het
Slc22a16	T	A	10: 40,467,886 (GRCm39)	V473E	probably damaging	Het
Slc26a3	A	G	12: 31,515,848 (GRCm39)	T583A	possibly damaging	Het
Slc7a15	T	C	12: 8,584,400 (GRCm39)	T117A	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Slitrk6	T	A	14: 110,989,725 (GRCm39)		probably benign	Het
Spata31g1	T	C	4: 42,972,199 (GRCm39)	S511P	possibly damaging	Het
Spata7	A	G	12: 98,624,524 (GRCm39)	Y110C	probably damaging	Het
Supt16	T	A	14: 52,421,453 (GRCm39)	I31F	probably benign	Het
Taar7a	T	C	10: 23,869,172 (GRCm39)	T70A	probably benign	Het
Top2a	A	G	11: 98,900,679 (GRCm39)	F594L	probably damaging	Het
Unc13d	C	T	11: 115,960,846 (GRCm39)		probably null	Het
Unc80	T	G	1: 66,522,497 (GRCm39)	V233G	probably damaging	Het
Wdr91	A	T	6: 34,857,781 (GRCm39)	D735E	probably damaging	Het
Zzef1	A	G	11: 72,756,917 (GRCm39)	T1141A	possibly damaging	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
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
R6501:Or4k44	UTSW	2	111,368,124 (GRCm39)	missense	probably damaging	1.00
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'- AGCCAATTGTCCAGGAAGTCAACAC -3'
(R):5'- AGCTTTTACTTTGAGCAGCAATGTCAC -3'

Sequencing Primer
(F):5'- GGAAGTCAACACCAAACTGCTG -3'
(R):5'- TGGGGACTTGCCCATTCAAAG -3'

Posted On

2013-05-09