Mutagenetix > Incidental Mutation

Incidental Mutation 'R7554:Or2at1'

584615

Institutional Source

Beutler Lab

Gene Symbol

Or2at1

Ensembl Gene

ENSMUSG00000073997

Gene Name

olfactory receptor family 2 subfamily AT member 1

Synonyms

MOR101-2, Olfr521, GA_x6K02T2PBJ9-2443810-2444775

MMRRC Submission

045651-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99416371-99417337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99417210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 280 (N280K)

Ref Sequence

ENSEMBL: ENSMUSP00000151473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098263] [ENSMUST00000219663] [ENSMUST00000220001]

AlphaFold

E9Q519

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098263
AA Change: N280K

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095863
Gene: ENSMUSG00000073997
AA Change: N280K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	313	1.4e-63	PFAM
Pfam:7TM_GPCR_Srsx	40	310	7.4e-6	PFAM
Pfam:7tm_1	46	309	2e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219663
AA Change: N280K

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220001
AA Change: N280K

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,686 (GRCm39)	F185I	probably damaging	Het
Abi3bp	T	A	16: 56,438,575 (GRCm39)		probably null	Het
Acot5	T	A	12: 84,120,254 (GRCm39)	L203H	probably damaging	Het
Alad	C	T	4: 62,430,023 (GRCm39)		probably null	Het
Alkbh5	C	T	11: 60,429,415 (GRCm39)	T56I	probably benign	Het
Apbb1ip	G	A	2: 22,713,558 (GRCm39)	D138N	unknown	Het
BC049715	T	G	6: 136,817,295 (GRCm39)	S178R	probably damaging	Het
C1rb	C	A	6: 124,557,365 (GRCm39)	H501N	probably damaging	Het
Celsr3	A	T	9: 108,718,408 (GRCm39)	M2327L	probably benign	Het
Cers4	G	A	8: 4,565,718 (GRCm39)	V55I	probably benign	Het
Cngb3	A	T	4: 19,461,753 (GRCm39)	K545*	probably null	Het
Crb1	C	T	1: 139,265,019 (GRCm39)	C133Y	probably damaging	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Cyp7b1	C	T	3: 18,151,610 (GRCm39)	G201D	probably benign	Het
Dcun1d2	A	T	8: 13,331,077 (GRCm39)	C18S	probably benign	Het
Ddx39b	A	T	17: 35,466,006 (GRCm39)	I176F	probably benign	Het
Dnah7a	A	G	1: 53,567,857 (GRCm39)	I1913T	possibly damaging	Het
Eif2ak1	T	C	5: 143,816,296 (GRCm39)	I198T	probably damaging	Het
Esp34	G	A	17: 38,866,782 (GRCm39)	M75I	probably benign	Het
Fam98a	G	T	17: 75,854,670 (GRCm39)	C46*	probably null	Het
Fanci	A	T	7: 79,062,500 (GRCm39)	N342I	probably damaging	Het
Fat1	A	T	8: 45,490,202 (GRCm39)	I3705F	possibly damaging	Het
Fbxw7	T	A	3: 84,883,620 (GRCm39)	V598D		Het
Gas2l2	G	A	11: 83,315,236 (GRCm39)	Q306*	probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gigyf2	T	A	1: 87,335,292 (GRCm39)	S378T	unknown	Het
Hao1	C	T	2: 134,372,538 (GRCm39)	V157M	possibly damaging	Het
Hdlbp	C	T	1: 93,365,031 (GRCm39)	V79M	probably damaging	Het
Htt	G	A	5: 35,022,084 (GRCm39)	R1676H	probably damaging	Het
Ift56	T	A	6: 38,362,435 (GRCm39)	L70Q	probably null	Het
Klhl11	A	G	11: 100,354,774 (GRCm39)	V349A	probably benign	Het
Lama2	T	C	10: 27,031,492 (GRCm39)	E1522G	probably damaging	Het
Map3k4	T	A	17: 12,451,300 (GRCm39)	K1531M	probably damaging	Het
Map3k4	T	A	17: 12,451,301 (GRCm39)	K1531*	probably null	Het
Mapk15	A	G	15: 75,867,745 (GRCm39)	Y120C	possibly damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mgat4d	A	C	8: 84,082,402 (GRCm39)	K117N	probably benign	Het
Mid1	G	T	X: 168,769,010 (GRCm39)	S468I	possibly damaging	Het
Mmp8	T	C	9: 7,563,112 (GRCm39)	L225P	probably damaging	Het
Mrps31	A	G	8: 22,911,445 (GRCm39)	K229R	possibly damaging	Het
Muc5b	A	T	7: 141,412,513 (GRCm39)	T1820S	unknown	Het
Myof	T	C	19: 37,942,958 (GRCm39)	T707A	probably benign	Het
Nckap5l	A	T	15: 99,327,261 (GRCm39)	S143T	probably benign	Het
Notch3	A	G	17: 32,341,345 (GRCm39)	S2136P	probably benign	Het
Nphp3	A	T	9: 103,919,270 (GRCm39)	D1306V	probably damaging	Het
Or10ag56	T	A	2: 87,139,349 (GRCm39)	M92K	probably damaging	Het
Or1e1b-ps1	C	T	11: 73,845,630 (GRCm39)	T38I	probably damaging	Het
Or52n1	T	C	7: 104,383,074 (GRCm39)	I166V	probably benign	Het
Or56b1	T	C	7: 104,285,733 (GRCm39)	M284T	probably benign	Het
Or5k15	T	C	16: 58,709,769 (GRCm39)	I271M	probably benign	Het
Pabpc4l	T	A	3: 46,401,549 (GRCm39)	T32S	probably benign	Het
Pcdhb10	A	C	18: 37,544,935 (GRCm39)	T4P	probably benign	Het
Pkhd1l1	A	G	15: 44,358,866 (GRCm39)	I358M	probably damaging	Het
Plekhg1	A	G	10: 3,913,647 (GRCm39)	E1178G		Het
Prkcd	A	T	14: 30,331,220 (GRCm39)	Y52N	probably damaging	Het
Rasa3	G	A	8: 13,645,390 (GRCm39)	T183M	probably damaging	Het
Rbm26	G	T	14: 105,398,029 (GRCm39)	A31D	unknown	Het
Scara3	T	C	14: 66,158,299 (GRCm39)	T570A	possibly damaging	Het
Sec24d	T	A	3: 123,149,423 (GRCm39)	V810D	probably damaging	Het
Sgcz	A	T	8: 38,030,426 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,109,477 (GRCm39)		probably null	Het
Synpo	G	T	18: 60,736,405 (GRCm39)	Q514K	probably benign	Het
Tagln2	G	T	1: 172,333,411 (GRCm39)	K88N	probably damaging	Het
Tcaf1	T	A	6: 42,654,388 (GRCm39)	K601N	probably benign	Het
Tent4a	G	T	13: 69,648,191 (GRCm39)	H734Q	probably damaging	Het
Tprn	T	C	2: 25,153,811 (GRCm39)	F371S	probably damaging	Het
Ttn	A	T	2: 76,671,652 (GRCm39)	V11304E	unknown	Het
Ttn	C	T	2: 76,706,207 (GRCm39)	W9171*	probably null	Het
Vmn2r50	A	T	7: 9,784,066 (GRCm39)	M136K	probably null	Het
Zfp518b	G	A	5: 38,830,415 (GRCm39)	P530L	probably damaging	Het
Zfp941	C	A	7: 140,391,970 (GRCm39)	S463I	possibly damaging	Het

Other mutations in Or2at1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02303:Or2at1	APN	7	99,417,179 (GRCm39)	missense	possibly damaging	0.73
IGL02491:Or2at1	APN	7	99,416,540 (GRCm39)	missense	possibly damaging	0.85
BB007:Or2at1	UTSW	7	99,416,803 (GRCm39)	missense	probably benign	0.37
BB017:Or2at1	UTSW	7	99,416,803 (GRCm39)	missense	probably benign	0.37
R0544:Or2at1	UTSW	7	99,416,867 (GRCm39)	missense	probably benign
R1029:Or2at1	UTSW	7	99,416,431 (GRCm39)	missense	probably benign	0.01
R1840:Or2at1	UTSW	7	99,416,803 (GRCm39)	missense	probably benign	0.37
R4709:Or2at1	UTSW	7	99,416,989 (GRCm39)	missense	probably damaging	1.00
R5215:Or2at1	UTSW	7	99,416,717 (GRCm39)	missense	probably damaging	1.00
R5752:Or2at1	UTSW	7	99,417,155 (GRCm39)	missense	probably benign	0.00
R5934:Or2at1	UTSW	7	99,416,596 (GRCm39)	missense	probably damaging	1.00
R6913:Or2at1	UTSW	7	99,416,924 (GRCm39)	missense	probably damaging	1.00
R7394:Or2at1	UTSW	7	99,416,553 (GRCm39)	missense	probably damaging	1.00
R7930:Or2at1	UTSW	7	99,416,803 (GRCm39)	missense	probably benign	0.37
R8332:Or2at1	UTSW	7	99,417,334 (GRCm39)	makesense	probably null
R9613:Or2at1	UTSW	7	99,416,536 (GRCm39)	missense	probably benign
Z1177:Or2at1	UTSW	7	99,417,121 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CTTCTGCATTGCCATGGTG -3'
(R):5'- GCGATGTTTACGAGGGAAAGTTC -3'

Sequencing Primer
(F):5'- GCCATGGTGGTGTCCTTCC -3'
(R):5'- TTACGAGGGAAAGTTCAGTCTACACC -3'

Posted On

2019-10-17