Mutagenetix > Incidental Mutation

Incidental Mutation 'R0212:Or1q1'

33511

Institutional Source

Beutler Lab

Gene Symbol

Or1q1

Ensembl Gene

ENSMUSG00000055838

Gene Name

olfactory receptor family 1 subfamily Q member 1

Synonyms

GA_x6K02T2NLDC-33688556-33689482, MOR138-3, Olfr357

MMRRC Submission

038463-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R0212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36886824-36887750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36887335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 171 (D171V)

Ref Sequence

ENSEMBL: ENSMUSP00000149727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069578] [ENSMUST00000213218] [ENSMUST00000216437]

AlphaFold

Q8VFP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000069578
AA Change: D171V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066272
Gene: ENSMUSG00000055838
AA Change: D171V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.6e-53	PFAM
Pfam:7tm_1	41	290	1.2e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213218
AA Change: D171V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000216437

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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
Ablim2	G	A	5: 36,006,254 (GRCm39)		probably null	Het
Adat1	T	A	8: 112,713,840 (GRCm39)	D113V	possibly damaging	Het
Arhgap40	T	G	2: 158,392,495 (GRCm39)	L656V	probably damaging	Het
Atg2a	T	C	19: 6,296,584 (GRCm39)	I330T	probably damaging	Het
Cad	A	G	5: 31,235,454 (GRCm39)	D2137G	probably damaging	Het
Cd8a	G	A	6: 71,350,633 (GRCm39)	E33K	probably benign	Het
Cemip	C	A	7: 83,622,398 (GRCm39)	G594C	probably damaging	Het
Chd6	T	A	2: 160,894,767 (GRCm39)	D31V	probably damaging	Het
Cmpk1	A	T	4: 114,822,216 (GRCm39)	M111K	possibly damaging	Het
Crispld2	T	G	8: 120,737,370 (GRCm39)	H40Q	probably benign	Het
Depdc5	A	G	5: 33,069,586 (GRCm39)	T441A	probably benign	Het
Dpm1	T	C	2: 168,069,414 (GRCm39)	N5S	probably benign	Het
Ercc4	A	G	16: 12,941,196 (GRCm39)		probably null	Het
Fam83f	A	T	15: 80,574,779 (GRCm39)	M229L	probably benign	Het
Fgd5	A	T	6: 91,965,189 (GRCm39)	D474V	probably damaging	Het
Fgf21	G	T	7: 45,263,526 (GRCm39)	P184Q	probably benign	Het
Fry	A	T	5: 150,419,862 (GRCm39)	D1008V	probably damaging	Het
Gjd2	T	C	2: 113,841,953 (GRCm39)	T175A	probably benign	Het
Gphn	C	T	12: 78,684,326 (GRCm39)	T577I	probably damaging	Het
Ifi207	A	T	1: 173,563,964 (GRCm39)	N18K	possibly damaging	Het
Ifne	T	C	4: 88,797,972 (GRCm39)	R149G	possibly damaging	Het
Ift80	A	T	3: 68,847,506 (GRCm39)	L330H	probably benign	Het
Inpp4b	A	T	8: 82,497,546 (GRCm39)	H122L	probably benign	Het
Inpp5e	T	C	2: 26,298,352 (GRCm39)		probably null	Het
Ism1	T	C	2: 139,582,177 (GRCm39)	L163S	probably benign	Het
Itga11	T	A	9: 62,653,251 (GRCm39)	V375E	probably benign	Het
Itpr3	T	G	17: 27,308,293 (GRCm39)	F306V	probably damaging	Het
Kif19a	A	T	11: 114,675,736 (GRCm39)	I403F	possibly damaging	Het
Klf12	A	T	14: 100,260,298 (GRCm39)	S144T	probably benign	Het
Lyst	C	T	13: 13,810,570 (GRCm39)	H747Y	possibly damaging	Het
Mccc2	A	G	13: 100,091,163 (GRCm39)	Y445H	probably benign	Het
Mei1	G	A	15: 81,980,132 (GRCm39)		probably null	Het
Metap2	T	A	10: 93,697,242 (GRCm39)	K479N	probably damaging	Het
Mief2	A	T	11: 60,621,493 (GRCm39)	D62V	probably damaging	Het
Mtrf1	A	G	14: 79,656,719 (GRCm39)	D407G	probably benign	Het
Myo3a	A	G	2: 22,296,659 (GRCm39)	R210G	probably damaging	Het
Nkx2-2	T	C	2: 147,026,090 (GRCm39)	H216R	probably damaging	Het
Nos1	A	G	5: 118,048,277 (GRCm39)	E694G	possibly damaging	Het
Nptn	A	T	9: 58,535,164 (GRCm39)	Y103F	probably benign	Het
Nrxn1	A	G	17: 90,670,186 (GRCm39)		probably benign	Het
Numbl	T	C	7: 26,980,184 (GRCm39)	S389P	probably damaging	Het
Or10d5	A	G	9: 39,861,236 (GRCm39)	V277A	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5d16	A	G	2: 87,773,435 (GRCm39)	F179S	probably damaging	Het
Or5i1	C	T	2: 87,613,826 (GRCm39)	P314L	unknown	Het
Or8g20	C	A	9: 39,396,384 (GRCm39)	S55I	probably damaging	Het
Osm	T	G	11: 4,188,465 (GRCm39)	S31A	probably benign	Het
Paqr4	T	C	17: 23,957,294 (GRCm39)	M70V	probably benign	Het
Pikfyve	T	A	1: 65,302,064 (GRCm39)	Y1607N	probably benign	Het
Plec	A	C	15: 76,075,505 (GRCm39)	Y402*	probably null	Het
Polq	A	G	16: 36,887,216 (GRCm39)	K1631E	probably damaging	Het
Pou6f1	A	G	15: 100,478,696 (GRCm39)	V129A	possibly damaging	Het
Prm2	A	G	16: 10,609,463 (GRCm39)		probably benign	Het
Prtn3	A	G	10: 79,716,971 (GRCm39)	Y112C	probably damaging	Het
Qrfp	T	A	2: 31,698,797 (GRCm39)	H45L	probably benign	Het
Rps6ka5	A	T	12: 100,519,428 (GRCm39)		probably null	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Slc10a1	A	C	12: 81,014,486 (GRCm39)	L78R	possibly damaging	Het
Slc26a5	A	T	5: 22,028,547 (GRCm39)	Y340*	probably null	Het
Sptbn2	T	C	19: 4,796,970 (GRCm39)		probably null	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Tmem131l	A	T	3: 83,820,575 (GRCm39)	S1226T	probably benign	Het
Togaram2	C	T	17: 72,031,978 (GRCm39)	L866F	probably damaging	Het
Txndc17	A	G	11: 72,098,558 (GRCm39)	T37A	probably benign	Het
Vmn2r105	C	A	17: 20,428,827 (GRCm39)	V750F	possibly damaging	Het
Vmn2r54	T	A	7: 12,366,424 (GRCm39)	Y170F	probably benign	Het
Wrnip1	T	C	13: 33,005,889 (GRCm39)	V577A	probably benign	Het
Zc3h7b	A	G	15: 81,660,529 (GRCm39)	T226A	probably benign	Het
Zfp948	T	C	17: 21,808,422 (GRCm39)	I538T	probably benign	Het
Zzef1	A	G	11: 72,764,736 (GRCm39)	E1401G	possibly damaging	Het

Other mutations in Or1q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Or1q1	APN	2	36,886,955 (GRCm39)	missense	probably benign
IGL02043:Or1q1	APN	2	36,887,477 (GRCm39)	nonsense	probably null
IGL02277:Or1q1	APN	2	36,887,196 (GRCm39)	splice site	probably null
IGL03037:Or1q1	APN	2	36,887,560 (GRCm39)	missense	probably benign	0.00
IGL03378:Or1q1	APN	2	36,886,915 (GRCm39)	missense	probably damaging	1.00
R0212:Or1q1	UTSW	2	36,887,644 (GRCm39)	missense	possibly damaging	0.92
R1334:Or1q1	UTSW	2	36,886,872 (GRCm39)	missense	probably benign	0.27
R1704:Or1q1	UTSW	2	36,886,896 (GRCm39)	missense	probably benign	0.34
R2020:Or1q1	UTSW	2	36,887,664 (GRCm39)	missense	possibly damaging	0.85
R2364:Or1q1	UTSW	2	36,887,577 (GRCm39)	missense	probably damaging	1.00
R4700:Or1q1	UTSW	2	36,887,515 (GRCm39)	missense	probably benign	0.01
R5105:Or1q1	UTSW	2	36,887,469 (GRCm39)	splice site	probably null
R5234:Or1q1	UTSW	2	36,887,107 (GRCm39)	missense	probably benign
R5557:Or1q1	UTSW	2	36,887,358 (GRCm39)	missense	probably damaging	1.00
R5966:Or1q1	UTSW	2	36,886,957 (GRCm39)	missense	possibly damaging	0.96
R6480:Or1q1	UTSW	2	36,887,007 (GRCm39)	missense	probably benign	0.00
R7046:Or1q1	UTSW	2	36,887,173 (GRCm39)	missense	probably benign	0.39
R7350:Or1q1	UTSW	2	36,886,873 (GRCm39)	missense	possibly damaging	0.84
R7583:Or1q1	UTSW	2	36,887,092 (GRCm39)	missense	probably damaging	1.00
R8128:Or1q1	UTSW	2	36,887,673 (GRCm39)	missense	probably benign	0.13
R8196:Or1q1	UTSW	2	36,886,873 (GRCm39)	missense	possibly damaging	0.84
R8475:Or1q1	UTSW	2	36,887,066 (GRCm39)	missense	probably damaging	0.99
R8867:Or1q1	UTSW	2	36,887,691 (GRCm39)	missense	probably damaging	1.00
R9550:Or1q1	UTSW	2	36,887,137 (GRCm39)	missense	probably damaging	1.00
R9627:Or1q1	UTSW	2	36,887,665 (GRCm39)	missense
R9716:Or1q1	UTSW	2	36,887,290 (GRCm39)	missense	probably damaging	0.98
Z1088:Or1q1	UTSW	2	36,887,717 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGGTACATTGCCATCTGTCACCC -3'
(R):5'- GAAATAGACCCATGTGAGAGTGCCG -3'

Sequencing Primer
(F):5'- CTCTCCGTTACTCCTCAATACTGAC -3'
(R):5'- TGCCGTAGAATATGGCTACC -3'

Posted On

2013-05-09