Mutagenetix > Incidental Mutation

Incidental Mutation 'R7930:Or2at1'

643527

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

045977-MU

Accession Numbers

Essential gene?

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

Stock #

R7930 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

99416371-99417337 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99416803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 145 (T145S)

Ref Sequence

ENSEMBL: ENSMUSP00000151473 (fasta)

Gene Model

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

AlphaFold

E9Q519

Predicted Effect

probably benign
Transcript: ENSMUST00000098263
AA Change: T145S

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095863
Gene: ENSMUSG00000073997
AA Change: T145S

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

probably benign
Transcript: ENSMUST00000219663
AA Change: T145S

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000220001
AA Change: T145S

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ahnak2	T	C	12: 112,745,560 (GRCm39)	E629G		Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
Dusp9	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	X: 72,684,128 (GRCm39)		probably benign	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm7876	A	T	14: 4,711,357 (GRCm38)	I124L	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Muc4	C	CTAG	16: 32,575,369 (GRCm39)		probably benign	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	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
R7554:Or2at1	UTSW	7	99,417,210 (GRCm39)	missense	possibly damaging	0.62
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'- TCAACCTCTCGGCTCTAGAC -3'
(R):5'- CAGAAGCCCATGAGTGTCTG -3'

Sequencing Primer
(F):5'- ACTGTCCCGAAGATGCTGTC -3'
(R):5'- CCCATGAGTGTCTGGGGAG -3'

Posted On

2020-08-07