Mutagenetix > Incidental Mutation

Incidental Mutation 'R7163:Or2t48'

557750

Institutional Source

Beutler Lab

Gene Symbol

Or2t48

Ensembl Gene

ENSMUSG00000050818

Gene Name

olfactory receptor family 2 subfamily T member 48

Synonyms

Olfr330, MOR275-1, GA_x6K02T2NKPP-895420-896349

MMRRC Submission

045330-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58419755-58425651 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 58419994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 273 (E273*)

Ref Sequence

ENSEMBL: ENSMUSP00000149073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134055] [ENSMUST00000213188]

AlphaFold

Q8VGD9

Predicted Effect

probably null
Transcript: ENSMUST00000134055
AA Change: E273*

SMART Domains

Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: E273*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	1.6e-46	PFAM
Pfam:7TM_GPCR_Srsx	39	309	4.4e-6	PFAM
Pfam:7tm_1	45	294	2.3e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213188
AA Change: E273*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,319,372 (GRCm39)	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,484,848 (GRCm39)	G19D	probably damaging	Het
Abca3	A	T	17: 24,583,916 (GRCm39)	M102L	probably benign	Het
Adam19	A	T	11: 46,022,544 (GRCm39)	Y499F	probably benign	Het
Adck2	T	C	6: 39,560,797 (GRCm39)	V444A	probably damaging	Het
Adck5	T	C	15: 76,478,016 (GRCm39)	V214A	probably damaging	Het
Agrn	G	A	4: 156,262,966 (GRCm39)	T437M	probably damaging	Het
Aox3	A	T	1: 58,158,671 (GRCm39)	I81F	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Blmh	A	G	11: 76,836,987 (GRCm39)	Y23C	unknown	Het
Cacnb1	A	G	11: 97,903,726 (GRCm39)	V109A	probably benign	Het
Ccdc27	C	T	4: 154,117,282 (GRCm39)	R555H	not run	Het
Cep170	A	C	1: 176,602,031 (GRCm39)	S358R	probably damaging	Het
Cfap46	A	T	7: 139,197,994 (GRCm39)		probably null	Het
Dclk1	G	T	3: 55,163,549 (GRCm39)	E214*	probably null	Het
Dhrs1	A	G	14: 55,976,838 (GRCm39)	L282P	probably benign	Het
Dlgap5	A	G	14: 47,637,095 (GRCm39)	L461P	probably damaging	Het
Elp2	G	T	18: 24,747,503 (GRCm39)	C185F	probably benign	Het
Fbxw7	T	C	3: 84,832,892 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,933,571 (GRCm39)	V17A	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm43302	T	A	5: 105,441,493 (GRCm39)		probably null	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hcn1	A	T	13: 118,062,083 (GRCm39)	I450L	unknown	Het
Hydin	T	A	8: 111,329,968 (GRCm39)	C4901S	probably benign	Het
Ino80	A	T	2: 119,223,356 (GRCm39)	I1186N	probably damaging	Het
Ints7	T	A	1: 191,349,949 (GRCm39)	I781N	possibly damaging	Het
Irf2	T	A	8: 47,290,712 (GRCm39)	V178E	possibly damaging	Het
Iws1	T	A	18: 32,226,277 (GRCm39)	S722T	possibly damaging	Het
Jak1	G	A	4: 101,032,385 (GRCm39)	S407F	probably damaging	Het
Kdm3a	G	T	6: 71,609,061 (GRCm39)	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940 (GRCm39)	S169P	probably damaging	Het
Kif15	A	G	9: 122,846,722 (GRCm39)	N1348S	probably damaging	Het
Kpna7	G	A	5: 144,939,206 (GRCm39)	P187L	unknown	Het
Krt35	A	T	11: 99,986,984 (GRCm39)	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,184,475 (GRCm39)	V131F	probably benign	Het
Mcf2l	G	A	8: 12,965,439 (GRCm39)	R4H	probably benign	Het
Megf6	C	T	4: 154,351,898 (GRCm39)	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,762,410 (GRCm39)	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,238 (GRCm39)	V121A	probably benign	Het
Myl2	T	A	5: 122,239,885 (GRCm39)	I26N	probably damaging	Het
Myo15a	A	G	11: 60,389,195 (GRCm39)	M862V		Het
Nckap5l	T	C	15: 99,331,354 (GRCm39)	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,821,774 (GRCm39)	E90A	probably benign	Het
Nup210	G	T	6: 91,050,313 (GRCm39)	N385K	probably damaging	Het
Or2h2	T	C	17: 37,396,937 (GRCm39)	N40S	probably damaging	Het
Or5m11b	T	A	2: 85,805,932 (GRCm39)	L115Q	probably damaging	Het
Or8c19-ps1	T	C	9: 38,220,345 (GRCm39)	F85L	probably damaging	Het
Or9e1	T	C	11: 58,732,012 (GRCm39)	V24A	probably benign	Het
Pcmt1	A	T	10: 7,513,922 (GRCm39)	M249K	probably benign	Het
Pde3a	T	C	6: 141,433,270 (GRCm39)	L767P	probably damaging	Het
Pde8a	T	C	7: 80,956,456 (GRCm39)	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,416 (GRCm39)	K690*	probably null	Het
Plxna4	T	C	6: 32,473,691 (GRCm39)	H442R	probably benign	Het
Polr1b	A	G	2: 128,967,931 (GRCm39)	D1108G	probably benign	Het
Prkn	G	A	17: 12,280,434 (GRCm39)	C430Y	probably damaging	Het
Sec23ip	T	C	7: 128,364,257 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,086,911 (GRCm39)	D57G	probably benign	Het
Sprtn	T	G	8: 125,625,044 (GRCm39)	F50V	probably damaging	Het
Srr	A	G	11: 74,803,828 (GRCm39)	F43S	probably damaging	Het
Szt2	A	G	4: 118,262,727 (GRCm39)	F17L	possibly damaging	Het
Taar1	G	T	10: 23,796,918 (GRCm39)	M205I	probably benign	Het
Tas2r143	A	G	6: 42,377,202 (GRCm39)	I11V	probably benign	Het
Tlx1	T	C	19: 45,139,655 (GRCm39)	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,977,503 (GRCm39)		probably null	Het
Vhl	A	G	6: 113,606,451 (GRCm39)	D156G	possibly damaging	Het
Washc4	T	A	10: 83,426,897 (GRCm39)	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,358,076 (GRCm39)	V101A	probably benign	Het
Zfp82	T	C	7: 29,761,669 (GRCm39)	R71G	probably benign	Het

Other mutations in Or2t48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Or2t48	APN	11	58,420,222 (GRCm39)	missense	probably benign	0.17
IGL01672:Or2t48	APN	11	58,419,948 (GRCm39)	missense	probably benign	0.43
IGL01782:Or2t48	APN	11	58,419,985 (GRCm39)	missense	probably benign	0.03
IGL01998:Or2t48	APN	11	58,420,403 (GRCm39)	nonsense	probably null
IGL02538:Or2t48	APN	11	58,420,816 (GRCm39)	utr 5 prime	probably benign
R1670:Or2t48	UTSW	11	58,420,237 (GRCm39)	missense	probably damaging	1.00
R1727:Or2t48	UTSW	11	58,420,342 (GRCm39)	missense	possibly damaging	0.51
R1768:Or2t48	UTSW	11	58,420,602 (GRCm39)	missense	probably damaging	1.00
R1839:Or2t48	UTSW	11	58,420,199 (GRCm39)	nonsense	probably null
R2129:Or2t48	UTSW	11	58,420,437 (GRCm39)	missense	probably damaging	1.00
R2135:Or2t48	UTSW	11	58,420,611 (GRCm39)	missense	probably damaging	1.00
R2425:Or2t48	UTSW	11	58,420,137 (GRCm39)	missense	probably damaging	1.00
R3753:Or2t48	UTSW	11	58,420,516 (GRCm39)	missense	probably benign	0.00
R4480:Or2t48	UTSW	11	58,420,627 (GRCm39)	missense	probably damaging	0.99
R4827:Or2t48	UTSW	11	58,420,422 (GRCm39)	missense	probably damaging	0.99
R4836:Or2t48	UTSW	11	58,420,308 (GRCm39)	missense	probably damaging	0.99
R4973:Or2t48	UTSW	11	58,419,903 (GRCm39)	missense	probably benign
R5128:Or2t48	UTSW	11	58,420,248 (GRCm39)	missense	probably damaging	0.98
R5288:Or2t48	UTSW	11	58,420,308 (GRCm39)	missense	probably damaging	0.99
R5326:Or2t48	UTSW	11	58,420,710 (GRCm39)	missense	probably benign	0.02
R5542:Or2t48	UTSW	11	58,420,710 (GRCm39)	missense	probably benign	0.02
R5620:Or2t48	UTSW	11	58,420,557 (GRCm39)	missense	probably damaging	0.99
R6210:Or2t48	UTSW	11	58,420,090 (GRCm39)	missense	probably damaging	1.00
R7886:Or2t48	UTSW	11	58,419,880 (GRCm39)	missense	probably benign	0.01
R8201:Or2t48	UTSW	11	58,419,865 (GRCm39)	makesense	noncoding transcript
R8519:Or2t48	UTSW	11	58,420,329 (GRCm39)	missense	possibly damaging	0.94
R8728:Or2t48	UTSW	11	58,420,027 (GRCm39)	missense	probably benign	0.34
R9175:Or2t48	UTSW	11	58,420,590 (GRCm39)	missense	probably damaging	1.00
R9178:Or2t48	UTSW	11	58,420,473 (GRCm39)	missense	probably damaging	1.00
R9190:Or2t48	UTSW	11	58,420,161 (GRCm39)	missense	possibly damaging	0.89
R9471:Or2t48	UTSW	11	58,420,355 (GRCm39)	nonsense	probably null
RF003:Or2t48	UTSW	11	58,419,983 (GRCm39)	frame shift	probably null
RF004:Or2t48	UTSW	11	58,419,983 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGGATCAGCAATAACATCAGCC -3'
(R):5'- CCTGTGACAGTCATTTCAGGC -3'

Sequencing Primer
(F):5'- CCTGAGACTTGGATCAACACATGTG -3'
(R):5'- GTGACAGTCATTTCAGGCTCCTATAC -3'

Posted On

2019-06-26