Mutagenetix > Incidental Mutation

Incidental Mutation 'R2137:Or5b121'

235921

Institutional Source

Beutler Lab

Gene Symbol

Or5b121

Ensembl Gene

ENSMUSG00000095484

Gene Name

olfactory receptor family 5 subfamily B member 121

Synonyms

GA_x6K02T2RE5P-3862389-3863336, MOR202-44, Olfr1480

MMRRC Submission

040140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2137 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13507039-13507986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13507802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 255 (I255N)

Ref Sequence

ENSEMBL: ENSMUSP00000147226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072219] [ENSMUST00000207093] [ENSMUST00000207904] [ENSMUST00000207987]

AlphaFold

A0A140LIR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000072219
AA Change: I255N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072076
Gene: ENSMUSG00000095484
AA Change: I255N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	8.2e-54	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1.6e-6	PFAM
Pfam:7tm_1	40	289	4.5e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207093
AA Change: I255N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207312

Predicted Effect

probably damaging
Transcript: ENSMUST00000207904
AA Change: I255N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207987
AA Change: I299N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216709

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	C	T	10: 81,482,143 (GRCm39)	T88I	probably damaging	Het
Atm	A	T	9: 53,364,675 (GRCm39)	V49D	probably damaging	Het
Bub1b	G	T	2: 118,467,199 (GRCm39)	E841*	probably null	Het
Cdh20	A	T	1: 110,027,836 (GRCm39)	N527I	probably damaging	Het
Cdh22	G	A	2: 164,958,314 (GRCm39)		probably benign	Het
Cog1	T	C	11: 113,550,127 (GRCm39)	L262P	probably damaging	Het
Col22a1	T	C	15: 71,878,797 (GRCm39)	H120R	possibly damaging	Het
Col4a2	T	C	8: 11,483,749 (GRCm39)	S890P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Evpl	T	C	11: 116,112,665 (GRCm39)	E1675G	probably damaging	Het
Faiml	G	A	9: 99,114,545 (GRCm39)	P115S	probably benign	Het
Fgg	A	T	3: 82,915,745 (GRCm39)	D62V	possibly damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Galntl6	C	T	8: 58,988,939 (GRCm39)		probably null	Het
Glyr1	T	C	16: 4,836,346 (GRCm39)	Y501C	probably benign	Het
Gm9847	G	T	12: 14,545,082 (GRCm39)		noncoding transcript	Het
Gria4	T	G	9: 4,427,026 (GRCm39)		probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Il6st	C	A	13: 112,639,392 (GRCm39)	H606N	possibly damaging	Het
Itprid1	A	G	6: 55,866,174 (GRCm39)	Q189R	probably damaging	Het
Kctd10	A	G	5: 114,505,389 (GRCm39)	F202L	probably damaging	Het
Kif17	T	A	4: 137,989,978 (GRCm39)	D55E	probably damaging	Het
Klf1	C	T	8: 85,629,775 (GRCm39)	A200V	possibly damaging	Het
Klhl32	A	T	4: 24,629,275 (GRCm39)	Y497*	probably null	Het
Kng2	G	T	16: 22,816,076 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,577,611 (GRCm39)	V245A	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mss51	T	C	14: 20,537,591 (GRCm39)	I47V	probably benign	Het
Myoz2	G	A	3: 122,827,861 (GRCm39)	T19M	probably benign	Het
Nampt	T	A	12: 32,880,309 (GRCm39)	N67K	probably benign	Het
Ncor2	A	T	5: 125,107,776 (GRCm39)	I1607K	probably damaging	Het
Nudt4	T	C	10: 95,399,600 (GRCm39)	Q7R	probably damaging	Het
Or5b119	A	G	19: 13,457,173 (GRCm39)	Y130H	probably damaging	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Pgm2	A	T	5: 64,273,709 (GRCm39)	M565L	probably benign	Het
Phactr1	T	G	13: 43,288,651 (GRCm39)	F639V	possibly damaging	Het
Plod3	C	A	5: 137,017,571 (GRCm39)	R165S	probably damaging	Het
Polr2b	T	A	5: 77,468,193 (GRCm39)	N164K	probably benign	Het
Rcbtb2	G	A	14: 73,399,491 (GRCm39)	G52S	probably damaging	Het
Rfc1	A	G	5: 65,468,382 (GRCm39)		probably null	Het
Rheb	A	G	5: 25,012,601 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor2	G	A	13: 24,905,817 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scg3	A	T	9: 75,584,092 (GRCm39)	D136E	probably damaging	Het
Slc10a4	C	T	5: 73,164,923 (GRCm39)	L172F	probably damaging	Het
Slc35c2	A	G	2: 165,123,299 (GRCm39)	Y113H	probably damaging	Het
Slc47a1	T	A	11: 61,235,318 (GRCm39)	D505V	probably benign	Het
Snap29	C	A	16: 17,246,113 (GRCm39)	D244E	possibly damaging	Het
Taar1	T	C	10: 23,797,168 (GRCm39)	F289L	probably benign	Het
Thbs2	T	A	17: 14,893,568 (GRCm39)	N871Y	probably damaging	Het
Tmem108	T	A	9: 103,377,162 (GRCm39)	T96S	possibly damaging	Het
Tnk2	G	T	16: 32,489,620 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,302,028 (GRCm39)	M928K	possibly damaging	Het
Tuba3b	A	G	6: 145,564,559 (GRCm39)	I110V	probably benign	Het
Tyk2	A	G	9: 21,022,281 (GRCm39)		probably benign	Het
Ugt1a9	T	A	1: 87,998,759 (GRCm39)	C70S	probably benign	Het
Vmn2r10	A	T	5: 109,151,410 (GRCm39)	I68K	possibly damaging	Het
Wfs1	T	C	5: 37,124,845 (GRCm39)	E682G	probably damaging	Het
Zfp213	T	C	17: 23,778,481 (GRCm39)		probably null	Het
Zfp809	T	C	9: 22,146,434 (GRCm39)	V41A	probably benign	Het
Zfp831	A	G	2: 174,547,539 (GRCm39)	K1574R	possibly damaging	Het

Other mutations in Or5b121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Or5b121	APN	19	13,507,214 (GRCm39)	missense	probably damaging	1.00
IGL01446:Or5b121	APN	19	13,507,616 (GRCm39)	missense	probably benign	0.00
IGL02300:Or5b121	APN	19	13,507,244 (GRCm39)	missense	probably damaging	1.00
IGL02689:Or5b121	APN	19	13,507,171 (GRCm39)	missense	probably benign	0.34
IGL03119:Or5b121	APN	19	13,507,799 (GRCm39)	missense	probably benign	0.11
R0636:Or5b121	UTSW	19	13,507,613 (GRCm39)	missense	possibly damaging	0.89
R1665:Or5b121	UTSW	19	13,507,202 (GRCm39)	missense	probably damaging	1.00
R1708:Or5b121	UTSW	19	13,507,277 (GRCm39)	missense	probably damaging	1.00
R2100:Or5b121	UTSW	19	13,507,798 (GRCm39)	missense	probably benign	0.02
R3879:Or5b121	UTSW	19	13,507,613 (GRCm39)	missense	probably damaging	1.00
R3949:Or5b121	UTSW	19	13,507,384 (GRCm39)	missense	probably damaging	0.99
R4780:Or5b121	UTSW	19	13,507,319 (GRCm39)	missense	probably benign	0.30
R4953:Or5b121	UTSW	19	13,507,178 (GRCm39)	missense	probably null	1.00
R5075:Or5b121	UTSW	19	13,507,637 (GRCm39)	missense	probably benign	0.17
R5133:Or5b121	UTSW	19	13,507,442 (GRCm39)	missense	probably damaging	1.00
R5656:Or5b121	UTSW	19	13,507,744 (GRCm39)	missense	probably benign
R6853:Or5b121	UTSW	19	13,507,295 (GRCm39)	missense	possibly damaging	0.48
R6890:Or5b121	UTSW	19	13,507,445 (GRCm39)	missense	probably damaging	1.00
R7481:Or5b121	UTSW	19	13,507,817 (GRCm39)	missense	probably damaging	1.00
R7663:Or5b121	UTSW	19	13,507,809 (GRCm39)	missense	probably damaging	0.96
R8869:Or5b121	UTSW	19	13,507,892 (GRCm39)	missense	probably damaging	1.00
R9425:Or5b121	UTSW	19	13,507,222 (GRCm39)	missense	probably damaging	1.00
R9531:Or5b121	UTSW	19	13,507,936 (GRCm39)	missense	probably benign	0.01
R9571:Or5b121	UTSW	19	13,507,697 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5b121	UTSW	19	13,507,216 (GRCm39)	missense	possibly damaging	0.64
Z1177:Or5b121	UTSW	19	13,507,579 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTTATGTTGGCAGCATTCAATG -3'
(R):5'- GTCTGAATCCAAAAGGAATACACAG -3'

Sequencing Primer
(F):5'- CAGCATTCAATGTTGCTTTTACTC -3'
(R):5'- AATTGACTAATCCCAGTGAAAGC -3'

Posted On

2014-10-01