Mutagenetix > Incidental Mutation

Incidental Mutation 'R5902:Or4k44'

456358

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

044100-MU

Accession Numbers

Essential gene?

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

Stock #

R5902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111367694-111368632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111367739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 298 (M298I)

Ref Sequence

ENSEMBL: ENSMUSP00000146438 (fasta)

Gene Model

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

AlphaFold

Q8VGE5

Predicted Effect

probably benign
Transcript: ENSMUST00000099614
AA Change: M298I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000097209
Gene: ENSMUSG00000094000
AA Change: M298I

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 benign
Transcript: ENSMUST00000208334
AA Change: M298I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000208675
AA Change: M298I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000215245

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.1%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,539,281 (GRCm39)	M1V	probably null	Het
Abca13	T	A	11: 9,247,177 (GRCm39)	L2308H	probably damaging	Het
Abcc8	T	C	7: 45,764,463 (GRCm39)	T1161A	probably benign	Het
Acin1	T	A	14: 54,901,130 (GRCm39)	T659S	probably benign	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Alkbh8	A	G	9: 3,385,414 (GRCm39)	K569E	probably benign	Het
Anxa3	A	T	5: 96,960,712 (GRCm39)	K39*	probably null	Het
Aoc2	A	G	11: 101,220,072 (GRCm39)	E659G	probably damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU022252	T	C	4: 119,084,101 (GRCm39)	D104G	probably benign	Het
Car6	T	C	4: 150,271,956 (GRCm39)	Y231C	possibly damaging	Het
Cdh10	T	G	15: 18,985,341 (GRCm39)		probably null	Het
Cebpz	A	C	17: 79,233,366 (GRCm39)	M787R	probably benign	Het
Chst2	A	G	9: 95,287,662 (GRCm39)	L228P	probably damaging	Het
Clic4	T	C	4: 134,999,869 (GRCm39)	K11R	probably benign	Het
Col6a3	C	T	1: 90,729,921 (GRCm39)		probably null	Het
Commd7	T	A	2: 153,463,737 (GRCm39)	T144S	probably damaging	Het
Ctla2a	T	A	13: 61,082,834 (GRCm39)	*138Y	probably null	Het
Dhx33	A	T	11: 70,879,957 (GRCm39)	V351D	probably damaging	Het
Dnah9	G	A	11: 65,916,013 (GRCm39)	T2313I	probably benign	Het
Dspp	A	T	5: 104,325,977 (GRCm39)	D780V	unknown	Het
Dync1li1	A	G	9: 114,546,929 (GRCm39)		probably null	Het
E2f3	C	T	13: 30,169,250 (GRCm39)		probably benign	Het
Fan1	T	C	7: 64,023,070 (GRCm39)		probably null	Het
Gart	A	G	16: 91,425,415 (GRCm39)	S617P	probably damaging	Het
Ggcx	A	G	6: 72,406,979 (GRCm39)	N705S	possibly damaging	Het
Gm4841	A	T	18: 60,403,868 (GRCm39)	V75E	probably damaging	Het
Greb1l	A	G	18: 10,538,302 (GRCm39)	E1105G	probably benign	Het
Hr	C	A	14: 70,795,231 (GRCm39)	Q288K	probably benign	Het
Hus1	T	C	11: 8,960,669 (GRCm39)		probably benign	Het
Ifi47	C	A	11: 48,986,213 (GRCm39)		probably null	Het
Irf2bp1	T	C	7: 18,738,372 (GRCm39)	V4A	probably benign	Het
Kprp	C	T	3: 92,731,835 (GRCm39)	C405Y	unknown	Het
Lacc1	T	C	14: 77,272,239 (GRCm39)	I186V	possibly damaging	Het
Lifr	A	G	15: 7,220,231 (GRCm39)	T954A	probably benign	Het
Lonrf2	T	C	1: 38,846,174 (GRCm39)	M333V	probably benign	Het
Mthfd1	A	T	12: 76,337,826 (GRCm39)	H400L	probably benign	Het
Myh4	A	G	11: 67,141,733 (GRCm39)	K864R	possibly damaging	Het
Nup50	C	T	15: 84,819,641 (GRCm39)	A305V	probably benign	Het
Or4a74	T	A	2: 89,439,595 (GRCm39)	I284L	probably damaging	Het
Pax4	G	T	6: 28,447,126 (GRCm39)	Q3K	probably benign	Het
Pced1b	T	G	15: 97,282,970 (GRCm39)	Y336*	probably null	Het
Postn	C	A	3: 54,279,510 (GRCm39)	N329K	probably benign	Het
Prickle1	T	C	15: 93,408,553 (GRCm39)	E82G	probably null	Het
Prtn3	T	C	10: 79,718,766 (GRCm39)	Y241H	probably damaging	Het
Rasgrf2	A	T	13: 92,068,011 (GRCm39)	I260K	probably damaging	Het
Sh3glb1	T	C	3: 144,418,431 (GRCm39)	N44S	possibly damaging	Het
Sis	A	T	3: 72,867,589 (GRCm39)		probably null	Het
Slc4a9	A	G	18: 36,662,386 (GRCm39)		probably null	Het
Slc4a9	A	T	18: 36,664,560 (GRCm39)	D406V	probably damaging	Het
Slc8a1	C	T	17: 81,715,511 (GRCm39)	G841R	probably damaging	Het
Smn1	C	T	13: 100,263,412 (GRCm39)	P60L	probably benign	Het
Snai1	G	A	2: 167,383,930 (GRCm39)	C241Y	probably damaging	Het
Spock3	A	G	8: 63,808,336 (GRCm39)	D411G	unknown	Het
Szt2	T	A	4: 118,248,700 (GRCm39)	T607S	probably benign	Het
Tcap	A	T	11: 98,274,673 (GRCm39)	M1L	probably benign	Het
Tex29	A	T	8: 11,905,723 (GRCm39)		probably benign	Het
Tex29	C	A	8: 11,904,276 (GRCm39)		probably benign	Het
Tex29	C	T	8: 11,904,277 (GRCm39)		probably benign	Het
Tln2	T	C	9: 67,269,999 (GRCm39)	T467A	probably benign	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Ube2q1	T	A	3: 89,683,487 (GRCm39)	L144*	probably null	Het
Vps13c	A	G	9: 67,841,729 (GRCm39)	E1917G	probably benign	Het
Wdr19	T	A	5: 65,384,482 (GRCm39)	N525K	probably benign	Het
Wdr3	A	T	3: 100,051,807 (GRCm39)		probably benign	Het
Wnt5b	T	A	6: 119,425,199 (GRCm39)	H6L	probably benign	Het
Yju2	A	G	17: 56,269,077 (GRCm39)	T62A	probably damaging	Het
Zdbf2	T	C	1: 63,345,685 (GRCm39)	S1355P	possibly damaging	Het
Zfp11	T	A	5: 129,734,976 (GRCm39)	I162F	probably damaging	Het
Zpbp	T	C	11: 11,365,332 (GRCm39)	T172A	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
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'- AAAGGTGATGAAGTTGGCCC -3'
(R):5'- TGCCCACATTACAGTCGTGC -3'

Sequencing Primer
(F):5'- AAAGGTGATGAAGTTGGCCCATTTG -3'
(R):5'- GCCCACATTACAGTCGTGCTAATC -3'

Posted On

2017-02-15