Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Or2t49'

372247

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

042469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4858 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

58392424-58393398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58392735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 216 (I216F)

Ref Sequence

ENSEMBL: ENSMUSP00000132693 (fasta)

Gene Model

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

AlphaFold

Q5NC44

Predicted Effect

probably damaging
Transcript: ENSMUST00000081743
AA Change: I222F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080440
Gene: ENSMUSG00000058807
AA Change: I222F

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 damaging
Transcript: ENSMUST00000170501
AA Change: I216F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132693
Gene: ENSMUSG00000058807
AA Change: I216F

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,225,321 (GRCm39)	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,614,563 (GRCm39)	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,338,428 (GRCm39)	D197G	probably damaging	Het
Aoc3	C	A	11: 101,222,488 (GRCm39)	H198Q	probably damaging	Het
Aox1	C	A	1: 58,143,640 (GRCm39)	H1253N	probably benign	Het
Arg1	T	A	10: 24,798,536 (GRCm39)	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,738,087 (GRCm39)	M1741L	probably benign	Het
Bend4	T	C	5: 67,574,915 (GRCm39)	E322G	probably damaging	Het
Brpf1	T	C	6: 113,294,639 (GRCm39)	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,104,160 (GRCm39)	T2058S	probably damaging	Het
Camk4	T	C	18: 33,309,266 (GRCm39)	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742 (GRCm39)	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244 (GRCm39)	I1066S	probably damaging	Het
Ccne1	A	G	7: 37,798,744 (GRCm39)	F292L	probably damaging	Het
Ccz1	A	T	5: 143,949,628 (GRCm39)	M100K	probably damaging	Het
Cep128	T	C	12: 91,226,936 (GRCm39)	T678A	probably benign	Het
Cep290	G	A	10: 100,330,773 (GRCm39)	R151Q	probably benign	Het
Crip3	A	G	17: 46,741,673 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,474,348 (GRCm39)	M1479V	possibly damaging	Het
Defb40	T	A	8: 19,025,093 (GRCm39)	I38F	probably benign	Het
Dnajb2	C	T	1: 75,220,198 (GRCm39)	T221I	possibly damaging	Het
Dpysl3	T	C	18: 43,467,079 (GRCm39)	I279V	probably damaging	Het
Echs1	G	A	7: 139,692,499 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,835 (GRCm39)	N89K	probably damaging	Het
Extl3	T	C	14: 65,313,443 (GRCm39)	T580A	probably benign	Het
Fam171a2	C	T	11: 102,330,982 (GRCm39)	G193E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxw20	A	T	9: 109,063,763 (GRCm39)	V3D	possibly damaging	Het
Fig4	G	A	10: 41,109,586 (GRCm39)	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,339,964 (GRCm39)	T496I	probably benign	Het
Fry	T	C	5: 150,325,108 (GRCm39)	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,406,968 (GRCm39)	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
H2-K2	A	T	17: 34,216,298 (GRCm39)	Y283N	probably benign	Het
Hectd2	A	T	19: 36,582,682 (GRCm39)	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812 (GRCm39)		probably null	Het
Igkv3-1	T	C	6: 70,681,028 (GRCm39)	S76P	probably damaging	Het
Krt15	A	T	11: 100,022,897 (GRCm39)	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,717,457 (GRCm39)	T23I	probably benign	Het
Map4k1	C	A	7: 28,688,195 (GRCm39)	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,063,972 (GRCm39)	T1004K	probably damaging	Het
Meak7	T	G	8: 120,499,262 (GRCm39)	T77P	probably benign	Het
Micall1	T	A	15: 79,007,146 (GRCm39)		probably benign	Het
Ms4a14	A	G	19: 11,278,976 (GRCm39)	I1194T	probably benign	Het
Mtor	T	C	4: 148,539,273 (GRCm39)	*257Q	probably null	Het
Mucl3	G	A	17: 35,948,468 (GRCm39)	T377I	possibly damaging	Het
Ncan	T	A	8: 70,556,705 (GRCm39)	T961S	probably benign	Het
Odad4	A	G	11: 100,441,147 (GRCm39)	N126S	probably damaging	Het
Or10z1	A	T	1: 174,078,262 (GRCm39)	I77N	probably damaging	Het
Or1e29	T	A	11: 73,667,372 (GRCm39)	L260F	probably benign	Het
Or1f19	T	C	16: 3,410,706 (GRCm39)	S149P	probably damaging	Het
Or8h10	T	G	2: 86,808,693 (GRCm39)	Y149S	probably damaging	Het
Or9e1	T	A	11: 58,732,033 (GRCm39)	L31H	possibly damaging	Het
Pcdhgb2	A	G	18: 37,825,153 (GRCm39)	R715G	probably benign	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,354,497 (GRCm39)	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,908,125 (GRCm39)	I1189V	probably damaging	Het
Psg18	A	T	7: 18,087,409 (GRCm39)	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,532,515 (GRCm39)	W496R	probably damaging	Het
Setd5	C	T	6: 113,126,527 (GRCm39)	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,531,729 (GRCm39)	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Speg	G	T	1: 75,398,379 (GRCm39)	R1942L	probably damaging	Het
Sulf2	C	A	2: 165,923,524 (GRCm39)	R565L	probably benign	Het
Tcerg1	T	C	18: 42,657,046 (GRCm39)	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,597,239 (GRCm39)	I440T	possibly damaging	Het
Tgm7	A	T	2: 120,929,445 (GRCm39)		probably null	Het
Tjp2	C	A	19: 24,099,484 (GRCm39)	G433V	probably damaging	Het
Tmc7	C	T	7: 118,142,565 (GRCm39)	G608R	probably damaging	Het
Tmed4	A	G	11: 6,224,456 (GRCm39)	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,592,686 (GRCm39)	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,235,217 (GRCm39)	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,492,445 (GRCm39)		probably null	Het
Trav12-2	G	T	14: 53,854,150 (GRCm39)	M41I	probably benign	Het
Trim6	T	A	7: 103,881,692 (GRCm39)	Y314*	probably null	Het
Utp25	A	G	1: 192,796,072 (GRCm39)	Y686H	probably damaging	Het
Vmn2r118	A	G	17: 55,899,894 (GRCm39)	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154 (GRCm39)	D601E	probably benign	Het
Zfp606	T	A	7: 12,226,983 (GRCm39)	I310N	possibly 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
R1717:Or2t49	UTSW	11	58,392,885 (GRCm39)	missense	probably benign	0.09
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
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'- ACCACCATGTCCTTCTCAGG -3'
(R):5'- TGTCCTCATGAACCACAGGG -3'

Sequencing Primer
(F):5'- CCATGTCCTTCTCAGGGGTGTG -3'
(R):5'- GATCCTTGGATGGCTTCATGTTCAC -3'

Posted On

2016-03-01