Mutagenetix > Incidental Mutation

Incidental Mutation 'R6292:Or2t44'

508512

Institutional Source

Beutler Lab

Gene Symbol

Or2t44

Ensembl Gene

ENSMUSG00000059504

Gene Name

olfactory receptor family 2 subfamily T member 44

Synonyms

MOR278-2, Olfr314, GA_x6K02T2NKPP-622179-621244

MMRRC Submission

044461-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58676965-58678095 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 58677063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000145387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076393] [ENSMUST00000205189]

AlphaFold

Q7TRZ7

Predicted Effect

probably null
Transcript: ENSMUST00000076393
AA Change: M1K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075729
Gene: ENSMUSG00000059504
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	306	2.8e-50	PFAM
Pfam:7TM_GPCR_Srsx	33	249	2.1e-6	PFAM
Pfam:7tm_1	39	288	2.3e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000205189
AA Change: M1K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145387
Gene: ENSMUSG00000059504
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	26	259	8.9e-42	PFAM
Pfam:7TM_GPCR_Srsx	33	246	9.4e-6	PFAM
Pfam:7tm_1	39	259	1.1e-25	PFAM

Meta Mutation Damage Score

0.8871

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,338,312 (GRCm39)	V709E	probably damaging	Het
Ankrd33b	C	T	15: 31,325,231 (GRCm39)		probably null	Het
Apaf1	T	C	10: 90,827,425 (GRCm39)	T1202A	possibly damaging	Het
Apip	G	T	2: 102,922,812 (GRCm39)	C210F	probably benign	Het
Chd9	A	T	8: 91,659,550 (GRCm39)	H170L	probably benign	Het
Clec16a	T	C	16: 10,378,015 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,500,935 (GRCm39)		probably benign	Het
Etl4	C	T	2: 20,748,384 (GRCm39)	H39Y	probably damaging	Het
Gdap1l1	A	T	2: 163,293,427 (GRCm39)	I218F	probably damaging	Het
Gm5141	A	T	13: 62,922,252 (GRCm39)	C306S	probably damaging	Het
Gm9961	C	T	16: 11,748,336 (GRCm39)		noncoding transcript	Het
Gpr27	C	T	6: 99,670,619 (GRCm39)	S327L	possibly damaging	Het
Hectd3	A	C	4: 116,856,005 (GRCm39)	T435P	probably damaging	Het
Hs3st1	T	A	5: 39,772,133 (GRCm39)	Q170L	possibly damaging	Het
Hykk	T	C	9: 54,828,110 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,338 (GRCm39)	S92P	possibly damaging	Het
Lrig1	A	T	6: 94,593,426 (GRCm39)	N418K	probably damaging	Het
Miga1	A	G	3: 152,023,356 (GRCm39)	F232L	probably benign	Het
Mkrn2	T	A	6: 115,590,295 (GRCm39)	M217K	probably damaging	Het
Myh7b	A	T	2: 155,474,316 (GRCm39)	Q1677L	probably damaging	Het
N4bp1	T	C	8: 87,579,867 (GRCm39)	E645G	probably damaging	Het
Nckap5	T	C	1: 125,842,752 (GRCm39)	K1752E	probably damaging	Het
Nek1	A	G	8: 61,507,770 (GRCm39)		probably null	Het
Ntng1	T	C	3: 110,051,202 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,644,176 (GRCm39)	V730A	probably benign	Het
Or51v14	T	A	7: 103,261,386 (GRCm39)	H58L	probably damaging	Het
Paqr6	C	T	3: 88,275,205 (GRCm39)	P213S	probably damaging	Het
Pign	A	T	1: 105,512,802 (GRCm39)	V627D	possibly damaging	Het
Rasal1	T	A	5: 120,797,685 (GRCm39)	V139E	probably damaging	Het
Scgb1b24	G	T	7: 33,443,577 (GRCm39)	A79S	possibly damaging	Het
Slc25a28	T	C	19: 43,653,031 (GRCm39)	D210G	probably benign	Het
Slc38a3	A	T	9: 107,532,353 (GRCm39)	I393N	possibly damaging	Het
Slc41a2	T	C	10: 83,090,790 (GRCm39)	N465D	probably damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Taf4	A	G	2: 179,565,780 (GRCm39)	S872P	probably damaging	Het
Tdrd3	G	T	14: 87,743,690 (GRCm39)	C540F	probably benign	Het
Thumpd1	A	T	7: 119,319,897 (GRCm39)	L23Q	probably benign	Het
Top1	A	T	2: 160,540,061 (GRCm39)	Y213F	probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Unc79	C	A	12: 103,108,991 (GRCm39)	A2005D	possibly damaging	Het
Upb1	T	C	10: 75,274,005 (GRCm39)	L344P	probably damaging	Het
Vmn1r72	T	A	7: 11,403,579 (GRCm39)	S290C	probably benign	Het
Vmn2r103	A	G	17: 20,013,866 (GRCm39)	I219M	possibly damaging	Het
Wapl	A	G	14: 34,451,152 (GRCm39)	T729A	probably damaging	Het
Washc5	C	T	15: 59,227,783 (GRCm39)	R393H	probably damaging	Het

Other mutations in Or2t44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02036:Or2t44	APN	11	58,677,923 (GRCm39)	missense	probably damaging	1.00
IGL02268:Or2t44	APN	11	58,677,551 (GRCm39)	missense	probably benign	0.39
IGL02743:Or2t44	APN	11	58,677,606 (GRCm39)	nonsense	probably null
R0157:Or2t44	UTSW	11	58,677,885 (GRCm39)	missense	probably damaging	1.00
R0622:Or2t44	UTSW	11	58,677,167 (GRCm39)	missense	probably damaging	1.00
R0926:Or2t44	UTSW	11	58,677,935 (GRCm39)	missense	probably damaging	1.00
R1985:Or2t44	UTSW	11	58,677,210 (GRCm39)	missense	probably damaging	0.99
R2273:Or2t44	UTSW	11	58,677,492 (GRCm39)	missense	probably benign	0.00
R2274:Or2t44	UTSW	11	58,677,492 (GRCm39)	missense	probably benign	0.00
R5642:Or2t44	UTSW	11	58,677,654 (GRCm39)	missense	probably damaging	1.00
R5770:Or2t44	UTSW	11	58,677,420 (GRCm39)	missense	probably benign	0.39
R6813:Or2t44	UTSW	11	58,677,472 (GRCm39)	missense	probably benign	0.06
R7285:Or2t44	UTSW	11	58,677,310 (GRCm39)	nonsense	probably null
R8944:Or2t44	UTSW	11	58,677,519 (GRCm39)	missense	probably damaging	1.00
R9076:Or2t44	UTSW	11	58,677,559 (GRCm39)	missense	possibly damaging	0.90
R9656:Or2t44	UTSW	11	58,677,635 (GRCm39)	missense	possibly damaging	0.79
Z1186:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1187:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1188:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1189:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1190:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1191:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00
Z1192:Or2t44	UTSW	11	58,677,773 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTCACTGTTCTGGCGAG -3'
(R):5'- TTGGCTCAGGAGAAAGTACATG -3'

Sequencing Primer
(F):5'- TTTGACAGGTAAGCCTTGGAAATG -3'
(R):5'- AAGTACATGGGTGTGTGGAGCC -3'

Posted On

2018-03-15