Mutagenetix > Incidental Mutation

Incidental Mutation 'R1717:Or2t49'

191146

Institutional Source

Beutler Lab

Gene Symbol

Or2t49

Ensembl Gene

ENSMUSG00000058807

Gene Name

olfactory receptor family 2 subfamily T member 49

Synonyms

GA_x6K02T2NKPP-912840-913784, Olfr331, MOR275-4

MMRRC Submission

039750-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58392424-58393398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58392885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 166 (M166L)

Ref Sequence

ENSEMBL: ENSMUSP00000132693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081743] [ENSMUST00000170501]

AlphaFold

Q5NC44

Predicted Effect

probably benign
Transcript: ENSMUST00000081743
AA Change: M172L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080440
Gene: ENSMUSG00000058807
AA Change: M172L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	1e-42	PFAM
Pfam:7tm_1	45	299	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170501
AA Change: M166L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132693
Gene: ENSMUSG00000058807
AA Change: M166L

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:7tm_1	39	292	4.9e-28	PFAM
Pfam:7tm_4	141	285	3.6e-42	PFAM

Meta Mutation Damage Score

0.2476

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

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, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,629,641 (GRCm39)		probably null	Het
4930583I09Rik	T	C	17: 65,141,444 (GRCm39)	N53S	unknown	Het
4933434E20Rik	T	A	3: 89,963,544 (GRCm39)	S67T	probably benign	Het
Abcc8	T	C	7: 45,765,239 (GRCm39)	I1127V	possibly damaging	Het
Abcg3	G	A	5: 105,111,421 (GRCm39)	Q349*	probably null	Het
Adam2	A	G	14: 66,306,007 (GRCm39)	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap11	C	A	14: 78,750,788 (GRCm39)	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,200,953 (GRCm39)	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,365,840 (GRCm39)	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,361,305 (GRCm39)		probably null	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,712 (GRCm39)		probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,989,121 (GRCm39)	D616G	probably damaging	Het
Arvcf	A	G	16: 18,220,319 (GRCm39)	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,364,631 (GRCm39)	R521W	probably damaging	Het
Casp16	A	G	17: 23,771,024 (GRCm39)	I127T	possibly damaging	Het
Cd163	A	G	6: 124,306,547 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,757,337 (GRCm39)	S754T	probably damaging	Het
Cel	A	G	2: 28,446,789 (GRCm39)	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,499,240 (GRCm39)	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,839,218 (GRCm39)	M989V	unknown	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,266,708 (GRCm39)	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 96,182,436 (GRCm39)		probably null	Het
Dact2	A	T	17: 14,418,175 (GRCm39)	W177R	probably benign	Het
Ddx10	A	G	9: 53,071,253 (GRCm39)	V680A	probably benign	Het
Eif5	T	A	12: 111,508,651 (GRCm39)	D215E	probably benign	Het
Evpl	C	T	11: 116,116,318 (GRCm39)	A817T	probably benign	Het
Fmo6	T	A	1: 162,753,821 (GRCm39)	R131*	probably null	Het
Fsd2	T	C	7: 81,184,857 (GRCm39)	T680A	probably benign	Het
Fsip2	T	C	2: 82,805,289 (GRCm39)	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364 (GRCm39)	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,265,694 (GRCm39)		probably null	Het
Galnt9	T	G	5: 110,744,078 (GRCm39)	I304S	probably benign	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5334	A	C	7: 68,268,725 (GRCm39)		noncoding transcript	Het
Grcc10	A	T	6: 124,717,476 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,734,937 (GRCm39)	T192A	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,111,461 (GRCm39)	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,809,514 (GRCm39)	C426S	probably damaging	Het
Lair1	A	G	7: 4,013,788 (GRCm39)	F153S	probably damaging	Het
Lrp1	T	C	10: 127,392,138 (GRCm39)	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,399,534 (GRCm39)	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,900,580 (GRCm39)	F295S	probably damaging	Het
Meis1	T	A	11: 18,960,608 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,484,579 (GRCm39)	I156K	probably benign	Het
Mmd2	T	C	5: 142,561,105 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,272,840 (GRCm39)	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405 (GRCm38)	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,343,014 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Or12e1	A	T	2: 87,022,247 (GRCm39)	N72I	probably benign	Het
Or4e2	T	C	14: 52,688,296 (GRCm39)	V142A	probably benign	Het
Or5as1	A	T	2: 86,980,150 (GRCm39)	L285*	probably null	Het
Or8d1b	C	T	9: 38,887,706 (GRCm39)	L245F	probably damaging	Het
Pcdha1	T	C	18: 37,065,237 (GRCm39)	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,569,841 (GRCm39)	V329E	probably damaging	Het
Pcf11	A	T	7: 92,312,793 (GRCm39)	D193E	probably benign	Het
Pcsk1	G	C	13: 75,258,947 (GRCm39)	M240I	probably damaging	Het
Pdc	T	A	1: 150,208,892 (GRCm39)	I125N	probably damaging	Het
Plch2	C	T	4: 155,082,729 (GRCm39)	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Riok1	T	A	13: 38,236,926 (GRCm39)	I389N	probably damaging	Het
Ror1	T	A	4: 100,160,135 (GRCm39)	S50R	probably benign	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Siglec1	G	A	2: 130,915,876 (GRCm39)	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 130,925,932 (GRCm39)	N258S	probably damaging	Het
Slbp	G	A	5: 33,802,946 (GRCm39)	A126V	probably benign	Het
Slc12a4	A	T	8: 106,674,203 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Synpo2	C	A	3: 122,906,203 (GRCm39)	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,397,550 (GRCm39)	T374I	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem190	T	C	7: 4,787,132 (GRCm39)	L112P	probably damaging	Het
Tsc2	C	T	17: 24,816,042 (GRCm39)	R1715Q	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Vmn1r46	T	C	6: 89,953,811 (GRCm39)	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,392,609 (GRCm39)	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,468,164 (GRCm39)	I2799T	probably benign	Het
Zfp105	T	C	9: 122,759,696 (GRCm39)	S456P	probably damaging	Het

Other mutations in Or2t49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Or2t49	APN	11	58,393,020 (GRCm39)	missense	possibly damaging	0.89
IGL02458:Or2t49	APN	11	58,393,073 (GRCm39)	missense	probably benign	0.20
IGL02971:Or2t49	APN	11	58,393,211 (GRCm39)	missense	probably damaging	1.00
IGL03346:Or2t49	APN	11	58,392,581 (GRCm39)	missense	possibly damaging	0.76
R0416:Or2t49	UTSW	11	58,393,222 (GRCm39)	missense	unknown
R1547:Or2t49	UTSW	11	58,392,651 (GRCm39)	missense	probably damaging	1.00
R1697:Or2t49	UTSW	11	58,392,502 (GRCm39)	missense	probably damaging	1.00
R1721:Or2t49	UTSW	11	58,392,765 (GRCm39)	missense	probably damaging	1.00
R2194:Or2t49	UTSW	11	58,392,468 (GRCm39)	missense	probably damaging	0.97
R3606:Or2t49	UTSW	11	58,392,957 (GRCm39)	missense	possibly damaging	0.49
R4457:Or2t49	UTSW	11	58,392,944 (GRCm39)	missense	probably damaging	1.00
R4766:Or2t49	UTSW	11	58,392,494 (GRCm39)	missense	probably damaging	1.00
R4858:Or2t49	UTSW	11	58,392,735 (GRCm39)	missense	probably damaging	1.00
R5475:Or2t49	UTSW	11	58,392,431 (GRCm39)	missense	probably benign	0.10
R5822:Or2t49	UTSW	11	58,392,464 (GRCm39)	missense	possibly damaging	0.61
R6337:Or2t49	UTSW	11	58,392,838 (GRCm39)	nonsense	probably null
R6416:Or2t49	UTSW	11	58,393,166 (GRCm39)	missense	probably damaging	1.00
R7101:Or2t49	UTSW	11	58,393,379 (GRCm39)	missense	probably benign	0.00
R7108:Or2t49	UTSW	11	58,393,380 (GRCm39)	missense	probably benign
R8327:Or2t49	UTSW	11	58,392,942 (GRCm39)	missense	probably benign
R9507:Or2t49	UTSW	11	58,392,576 (GRCm39)	missense	possibly damaging	0.87
RF035:Or2t49	UTSW	11	58,393,208 (GRCm39)	small deletion	probably benign
Z1186:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1186:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1186:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1186:Or2t49	UTSW	11	58,393,210 (GRCm39)	small deletion	probably benign
Z1187:Or2t49	UTSW	11	58,392,936 (GRCm39)	missense	probably benign	0.06
Z1187:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1187:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1187:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1187:Or2t49	UTSW	11	58,392,474 (GRCm39)	missense	probably benign
Z1187:Or2t49	UTSW	11	58,392,927 (GRCm39)	missense	probably benign
Z1188:Or2t49	UTSW	11	58,392,927 (GRCm39)	missense	probably benign
Z1188:Or2t49	UTSW	11	58,392,474 (GRCm39)	missense	probably benign
Z1188:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1188:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1188:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1188:Or2t49	UTSW	11	58,392,936 (GRCm39)	missense	probably benign	0.06
Z1189:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1189:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1189:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1190:Or2t49	UTSW	11	58,392,927 (GRCm39)	missense	probably benign
Z1190:Or2t49	UTSW	11	58,392,474 (GRCm39)	missense	probably benign
Z1190:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1190:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1190:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1190:Or2t49	UTSW	11	58,392,936 (GRCm39)	missense	probably benign	0.06
Z1191:Or2t49	UTSW	11	58,392,474 (GRCm39)	missense	probably benign
Z1191:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1191:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1191:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1191:Or2t49	UTSW	11	58,392,936 (GRCm39)	missense	probably benign	0.06
Z1191:Or2t49	UTSW	11	58,392,927 (GRCm39)	missense	probably benign
Z1192:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1192:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1192:Or2t49	UTSW	11	58,393,210 (GRCm39)	small deletion	probably benign
Z1192:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96

Predicted Primers

PCR Primer
(F):5'- GCCTGAAATGACTGTCACAGGGATG -3'
(R):5'- TGTCACTGTGCCCAAGATGCTC -3'

Sequencing Primer
(F):5'- CTGTCACAGGGATGAGAAGC -3'
(R):5'- CTACCTGACATTAGCAGGGTC -3'

Posted On

2014-05-14