Mutagenetix > Incidental Mutation

Incidental Mutation 'R0636:Or5b121'

56723

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

038825-MU

Accession Numbers

Essential gene?

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

Stock #

R0636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13507039-13507986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13507613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 236 (Y236F)

Ref Sequence

ENSEMBL: ENSMUSP00000146931 (fasta)

Gene Model

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

AlphaFold

A0A140LIR8

Predicted Effect

probably benign
Transcript: ENSMUST00000072219
AA Change: Y192F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000072076
Gene: ENSMUSG00000095484
AA Change: Y192F

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 benign
Transcript: ENSMUST00000207093
AA Change: Y192F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000207904
AA Change: Y192F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207987
AA Change: Y236F

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216709

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

96% (74/77)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,088,414 (GRCm39)	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Aco1	A	G	4: 40,175,697 (GRCm39)	E146G	probably damaging	Het
Adam2	T	G	14: 66,272,265 (GRCm39)	D639A	probably benign	Het
Adh4	G	T	3: 138,133,835 (GRCm39)	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,298,702 (GRCm39)	D76G	probably damaging	Het
Akip1	T	C	7: 109,306,726 (GRCm39)		probably benign	Het
Ap3d1	T	A	10: 80,555,216 (GRCm39)	K370*	probably null	Het
Arfgef1	C	A	1: 10,270,076 (GRCm39)	V358L	probably benign	Het
Arpp21	A	T	9: 112,012,566 (GRCm39)	D85E	probably benign	Het
Azi2	A	T	9: 117,891,125 (GRCm39)	L383F	probably benign	Het
Bpgm	T	A	6: 34,481,222 (GRCm39)	D206E	probably benign	Het
Bsn	T	C	9: 107,985,033 (GRCm39)	D3007G	unknown	Het
Ccdc142	T	G	6: 83,084,179 (GRCm39)		probably benign	Het
Cep135	T	C	5: 76,763,504 (GRCm39)	V498A	probably benign	Het
Cntn6	A	T	6: 104,840,109 (GRCm39)	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,273,642 (GRCm39)		probably benign	Het
Csf2rb2	G	A	15: 78,176,160 (GRCm39)	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,399,895 (GRCm39)	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,173,713 (GRCm39)	T152A	probably benign	Het
Def8	G	A	8: 124,181,096 (GRCm39)	W176*	probably null	Het
Dgkg	A	G	16: 22,398,479 (GRCm39)		probably benign	Het
Ear10	T	C	14: 44,160,451 (GRCm39)		probably null	Het
Fbxw2	A	T	2: 34,712,859 (GRCm39)	Y67*	probably null	Het
Flii	T	A	11: 60,606,378 (GRCm39)	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,590,303 (GRCm39)	R270K	probably benign	Het
Gnl3	T	A	14: 30,739,110 (GRCm39)	K75N	probably damaging	Het
Gpc6	A	T	14: 117,861,905 (GRCm39)	M274L	probably benign	Het
Ifi47	A	G	11: 48,987,478 (GRCm39)	E415G	possibly damaging	Het
Ift57	A	G	16: 49,532,259 (GRCm39)	T130A	probably benign	Het
Itpr2	T	A	6: 146,072,910 (GRCm39)	D2373V	probably damaging	Het
Kat6a	T	C	8: 23,429,339 (GRCm39)	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,766,823 (GRCm39)		probably benign	Het
Klra2	T	C	6: 131,197,067 (GRCm39)		probably benign	Het
Lama5	A	G	2: 179,831,124 (GRCm39)		probably null	Het
Mapk4	A	G	18: 74,063,525 (GRCm39)	S566P	probably benign	Het
Mindy4	C	A	6: 55,253,570 (GRCm39)	R480S	possibly damaging	Het
Mterf3	T	C	13: 67,070,817 (GRCm39)		probably benign	Het
Mtmr2	A	G	9: 13,713,209 (GRCm39)		probably null	Het
Myef2l	T	C	3: 10,153,843 (GRCm39)	L204P	possibly damaging	Het
Naip5	T	C	13: 100,356,196 (GRCm39)	T1140A	probably benign	Het
Nf1	A	G	11: 79,426,529 (GRCm39)	T1648A	probably damaging	Het
Nlk	A	T	11: 78,586,670 (GRCm39)	D141E	probably benign	Het
Noxa1	C	A	2: 24,976,106 (GRCm39)		probably benign	Het
Or4g16	A	G	2: 111,136,757 (GRCm39)	N69S	probably benign	Het
Or5p55	T	C	7: 107,566,679 (GRCm39)	V25A	probably benign	Het
Otog	G	A	7: 45,913,652 (GRCm39)		probably null	Het
Pebp4	T	C	14: 70,285,796 (GRCm39)		probably benign	Het
Phgdh	G	T	3: 98,240,607 (GRCm39)	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,702,242 (GRCm39)	H346R	probably benign	Het
Rsf1	T	C	7: 97,311,226 (GRCm39)	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,649,056 (GRCm39)	H624Y	probably damaging	Het
Semp2l2a	T	C	8: 13,887,870 (GRCm39)	R74G	probably benign	Het
Setdb2	T	C	14: 59,644,153 (GRCm39)	N656D	probably benign	Het
Slc22a23	T	C	13: 34,483,076 (GRCm39)	T268A	probably benign	Het
Slc3a1	A	T	17: 85,340,222 (GRCm39)	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,742,904 (GRCm39)	S206P	probably benign	Het
Susd2	T	A	10: 75,475,184 (GRCm39)	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121 (GRCm39)	Q2063*	probably null	Het
Syne2	G	A	12: 75,977,757 (GRCm39)	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,834,803 (GRCm39)	L64P	probably damaging	Het
Tigd2	A	G	6: 59,188,272 (GRCm39)	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,745,834 (GRCm39)	V411F	probably damaging	Het
Ubr4	T	C	4: 139,163,613 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,554,935 (GRCm39)	C3571Y	probably benign	Het
Usp8	A	G	2: 126,562,030 (GRCm39)	M75V	possibly damaging	Het
Vcan	C	T	13: 89,852,825 (GRCm39)	D712N	probably damaging	Het
Vcan	C	A	13: 89,860,386 (GRCm39)	R327L	probably damaging	Het
Vps8	A	G	16: 21,253,683 (GRCm39)	E8G	probably benign	Het
Washc5	T	C	15: 59,231,258 (GRCm39)	D335G	probably benign	Het
Zbtb39	A	G	10: 127,578,704 (GRCm39)	N426S	probably benign	Het
Zfp184	T	A	13: 22,133,919 (GRCm39)	D55E	probably damaging	Het
Zfp882	T	C	8: 72,668,181 (GRCm39)	V336A	probably benign	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
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
R2137:Or5b121	UTSW	19	13,507,802 (GRCm39)	missense	probably damaging	0.98
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'- AGTGTGCAAACCCTTGCATTACTCC -3'
(R):5'- ACAGATGCCAACTTGTCAGTGTCC -3'

Sequencing Primer
(F):5'- TTGCATTACTCCACTACTATGACAAC -3'
(R):5'- TTGTTCCATAGAAGATGGAAACAGTG -3'

Posted On

2013-07-11