Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Or5b121'

442361

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

043302-MU

Accession Numbers

Essential gene?

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

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13507039-13507986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13507744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 280 (T280A)

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: T236A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072076
Gene: ENSMUSG00000095484
AA Change: T236A

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: T236A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207904
AA Change: T236A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207987
AA Change: T280A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216709

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Adrb3	T	C	8: 27,717,405 (GRCm39)	D348G	probably damaging	Het
Atg2b	A	G	12: 105,587,587 (GRCm39)	V1959A	probably benign	Het
Bicral	G	A	17: 47,119,295 (GRCm39)	T742M	probably damaging	Het
Bub1b	T	A	2: 118,435,912 (GRCm39)	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,445,930 (GRCm39)	V414A	probably benign	Het
Cd22	T	G	7: 30,569,198 (GRCm39)	Y612S	probably damaging	Het
Cd68	T	A	11: 69,555,247 (GRCm39)	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,503,393 (GRCm39)	N852K	probably benign	Het
Cpa6	T	A	1: 10,399,739 (GRCm39)	H363L	probably benign	Het
Ddx18	A	T	1: 121,489,087 (GRCm39)	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,210 (GRCm39)	D3849G	probably benign	Het
Eci1	T	A	17: 24,656,283 (GRCm39)	N164K	probably damaging	Het
Efs	T	C	14: 55,154,584 (GRCm39)	T552A	probably damaging	Het
Fbp1	C	A	13: 63,023,010 (GRCm39)	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,261,826 (GRCm39)	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,660,430 (GRCm39)	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,143,542 (GRCm39)	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,743,191 (GRCm39)		probably null	Het
Klhl41	T	A	2: 69,513,876 (GRCm39)	I585N	possibly damaging	Het
Map6	A	G	7: 98,985,505 (GRCm39)	K470E	probably damaging	Het
Mast3	T	C	8: 71,238,865 (GRCm39)	T496A	probably damaging	Het
Mbd6	A	T	10: 127,121,155 (GRCm39)		probably benign	Het
Melk	A	G	4: 44,312,237 (GRCm39)	K183R	possibly damaging	Het
Mta1	T	C	12: 113,086,759 (GRCm39)	V152A	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Nav3	A	C	10: 109,600,494 (GRCm39)	S1378A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,338,685 (GRCm39)	R651*	probably null	Het
Or1e1f	T	A	11: 73,855,536 (GRCm39)	M34K	probably damaging	Het
Or5p72	A	G	7: 108,021,825 (GRCm39)	I16V	probably benign	Het
P2rx7	A	T	5: 122,811,780 (GRCm39)	R364W	probably damaging	Het
Phactr2	T	C	10: 13,264,447 (GRCm39)	D2G	probably benign	Het
Phc3	G	T	3: 31,020,015 (GRCm39)	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,073,711 (GRCm39)		probably null	Het
Prdm10	C	T	9: 31,264,713 (GRCm39)	T667M	probably benign	Het
Pwwp2b	T	A	7: 138,835,887 (GRCm39)	S443T	possibly damaging	Het
Pzp	T	C	6: 128,467,035 (GRCm39)	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,526,962 (GRCm39)	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,378,508 (GRCm39)	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,656,567 (GRCm39)	D266G	probably damaging	Het
Shank1	T	C	7: 44,002,310 (GRCm39)	V1343A	probably benign	Het
Slf2	T	A	19: 44,961,674 (GRCm39)	D1064E	probably benign	Het
Slu7	A	G	11: 43,334,245 (GRCm39)	K424E	probably benign	Het
Smg1	A	T	7: 117,753,887 (GRCm39)		probably benign	Het
Sptlc2	A	T	12: 87,393,535 (GRCm39)	L264Q	probably damaging	Het
Sra1	A	G	18: 36,811,460 (GRCm39)	S93P	probably damaging	Het
Sult1c2	T	C	17: 54,271,680 (GRCm39)	E169G	probably benign	Het
Sv2a	A	G	3: 96,092,888 (GRCm39)	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,813,754 (GRCm39)	I362M	probably damaging	Het
Tenm3	T	C	8: 48,681,797 (GRCm39)	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,457,690 (GRCm39)	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,098,628 (GRCm39)	Y68N	probably benign	Het
Ttn	T	G	2: 76,604,998 (GRCm39)	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,356,433 (GRCm39)	V95A	probably damaging	Het
Usp17ld	A	G	7: 102,900,047 (GRCm39)	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,285,152 (GRCm39)	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,113,575 (GRCm39)	R176*	probably null	Het
Zbtb46	A	G	2: 181,065,210 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,785,848 (GRCm39)	V233A	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
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
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
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'- GTCAGTGGACTCTTACAATCTTCC -3'
(R):5'- TCCAGCAACTTTCTTGAATGC -3'

Sequencing Primer
(F):5'- CTGCCATTCTAATGTAGTCAATCAC -3'
(R):5'- GCAACTTTCTTGAATGCATTCTTGAC -3'

Posted On

2016-11-09