Mutagenetix > Incidental Mutation

Incidental Mutation 'R4837:Or4k44'

374320

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

042452-MU

Accession Numbers

Essential gene?

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

Stock #

R4837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111367694-111368632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111368319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 105 (H105L)

Ref Sequence

ENSEMBL: ENSMUSP00000146438 (fasta)

Gene Model

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

AlphaFold

Q8VGE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099614
AA Change: H105L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097209
Gene: ENSMUSG00000094000
AA Change: H105L

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: H105L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208675
AA Change: H105L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000215245

Meta Mutation Damage Score

0.3413

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (75/76)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,846,203 (GRCm39)	H618L	probably benign	Het
Adgrl3	A	G	5: 81,914,081 (GRCm39)	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,749,359 (GRCm39)	S203P	probably benign	Het
Allc	A	G	12: 28,609,308 (GRCm39)	V244A	probably benign	Het
Ap3m1	G	A	14: 21,087,225 (GRCm39)	P157L	probably damaging	Het
Arhgef2	T	G	3: 88,540,250 (GRCm39)	I97S	probably damaging	Het
Btaf1	C	A	19: 36,944,185 (GRCm39)	T398K	probably benign	Het
Cabp1	T	C	5: 115,311,212 (GRCm39)	M158V	probably damaging	Het
Ccdc162	G	A	10: 41,549,863 (GRCm39)	P340L	probably benign	Het
Ccdc168	G	A	1: 44,100,594 (GRCm39)	T168I	possibly damaging	Het
Clip4	A	G	17: 72,141,217 (GRCm39)	K524E	probably damaging	Het
Cltc	A	G	11: 86,586,474 (GRCm39)	V189A	probably benign	Het
Cmc2	A	G	8: 117,620,879 (GRCm39)	F34S	probably damaging	Het
Ctcfl	G	T	2: 172,955,449 (GRCm39)	T271N	probably benign	Het
Cyp4f16	T	A	17: 32,761,738 (GRCm39)	F124I	possibly damaging	Het
Ddx41	C	A	13: 55,679,461 (GRCm39)	R479L	possibly damaging	Het
Dgcr6	C	A	16: 17,884,710 (GRCm39)	N87K	possibly damaging	Het
Dll1	A	G	17: 15,589,121 (GRCm39)	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,617,928 (GRCm39)	M263I	probably benign	Het
Dusp13b	T	A	14: 21,793,593 (GRCm39)		probably benign	Het
Fam185a	T	A	5: 21,685,375 (GRCm39)	I357N	probably benign	Het
Fam186a	T	C	15: 99,838,678 (GRCm39)	Y2522C	unknown	Het
Fam222a	T	A	5: 114,732,458 (GRCm39)	C4*	probably null	Het
Filip1	T	C	9: 79,726,741 (GRCm39)	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,365,172 (GRCm39)	R389C	probably damaging	Het
Gstm3	T	A	3: 107,871,531 (GRCm39)	T217S	probably benign	Het
Gucy2g	T	C	19: 55,214,485 (GRCm39)	T548A	probably benign	Het
Hectd3	T	A	4: 116,859,794 (GRCm39)	C744S	probably null	Het
Hnrnpl	T	C	7: 28,516,762 (GRCm39)	S184P	probably benign	Het
Il3	G	A	11: 54,158,083 (GRCm39)		probably benign	Het
Itga5	C	T	15: 103,262,511 (GRCm39)	G330S	probably damaging	Het
Kl	A	G	5: 150,904,312 (GRCm39)	T355A	possibly damaging	Het
Lipk	A	C	19: 34,009,720 (GRCm39)	S208R	probably damaging	Het
Mrs2	T	A	13: 25,183,040 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,674,887 (GRCm39)	E372G	probably damaging	Het
Myh4	C	A	11: 67,149,818 (GRCm39)	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nlrp12	T	C	7: 3,279,693 (GRCm39)	E881G	probably damaging	Het
Nol9	T	C	4: 152,136,552 (GRCm39)		probably benign	Het
Nwd1	A	G	8: 73,383,759 (GRCm39)	E52G	probably damaging	Het
Opn4	A	G	14: 34,318,261 (GRCm39)	V242A	probably damaging	Het
Or4e1	A	T	14: 52,701,103 (GRCm39)	M121K	probably damaging	Het
Or5m13	A	G	2: 85,748,748 (GRCm39)	T160A	probably benign	Het
Or6b1	T	G	6: 42,814,783 (GRCm39)		probably null	Het
Or6b2b	A	G	1: 92,418,697 (GRCm39)	V260A	probably benign	Het
Paxbp1	G	A	16: 90,831,866 (GRCm39)	Q341*	probably null	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,622,867 (GRCm39)	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,285,749 (GRCm39)	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,592,906 (GRCm39)	N179S	probably benign	Het
Prr11	A	C	11: 86,989,517 (GRCm39)	S285A	probably benign	Het
Ranbp17	A	G	11: 33,278,451 (GRCm39)	S139P	probably damaging	Het
Rasa4	G	A	5: 136,120,664 (GRCm39)		probably null	Het
Rnf213	G	C	11: 119,333,589 (GRCm39)	G2934R	probably benign	Het
Rpap1	A	G	2: 119,608,732 (GRCm39)	V210A	probably benign	Het
Rpn1	T	A	6: 88,067,187 (GRCm39)	N182K	probably benign	Het
Rps24	C	T	14: 24,541,855 (GRCm39)	T14I	possibly damaging	Het
Rrp12	C	T	19: 41,865,944 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,108,539 (GRCm39)		probably null	Het
Rufy1	A	G	11: 50,292,320 (GRCm39)	S490P	probably damaging	Het
Sec62	T	A	3: 30,864,018 (GRCm39)	M100K	unknown	Het
Spata16	A	G	3: 26,787,081 (GRCm39)	H253R	possibly damaging	Het
Srcap	T	C	7: 127,158,134 (GRCm39)		probably benign	Het
Srrm1	A	G	4: 135,072,823 (GRCm39)		probably benign	Het
Tbcd	G	A	11: 121,473,611 (GRCm39)		probably null	Het
Tedc2	C	A	17: 24,439,567 (GRCm39)	A25S	probably damaging	Het
Tnr	A	T	1: 159,512,358 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,936,981 (GRCm39)	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,650,609 (GRCm39)	G201D	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Vmn1r211	G	T	13: 23,036,296 (GRCm39)	Q124K	probably benign	Het
Wasf3	T	C	5: 146,397,788 (GRCm39)	V185A	probably benign	Het
Zbtb12	A	G	17: 35,114,985 (GRCm39)	T257A	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
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'- TCATTGGGACCACAAAAGGGC -3'
(R):5'- GTCTGGAAATATTGTCATCCTGACC -3'

Sequencing Primer
(F):5'- GGGCAGATGCACAATCACTACTATG -3'
(R):5'- GTCATCCTGACCTTAATAACCACTG -3'

Posted On

2016-03-01