Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Or5b122'

602596

Institutional Source

Beutler Lab

Gene Symbol

Or5b122

Ensembl Gene

ENSMUSG00000096289

Gene Name

olfactory receptor family 5 subfamily B member 122

Synonyms

Olfr1484, MOR202-37, GA_x6K02T2RE5P-3917859-3918806

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13562670-13563617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13563415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 206 (I206N)

Ref Sequence

ENSEMBL: ENSMUSP00000146646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074180] [ENSMUST00000208104] [ENSMUST00000215567] [ENSMUST00000216014] [ENSMUST00000216369] [ENSMUST00000217451]

AlphaFold

Q8VEU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000074180
AA Change: I249N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073811
Gene: ENSMUSG00000096289
AA Change: I249N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	7.4e-55	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1.1e-5	PFAM
Pfam:7tm_1	40	289	3.7e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208104
AA Change: I206N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215567
AA Change: I249N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216014
AA Change: I249N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216369
AA Change: I206N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217451
AA Change: I249N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,263 (GRCm39)		probably benign	Het
Angptl1	A	T	1: 156,684,794 (GRCm39)	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 52,043,050 (GRCm39)		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,653 (GRCm39)		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,162,675 (GRCm39)		probably benign	Het
Car13	T	C	3: 14,719,974 (GRCm39)	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,619,805 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,108,424 (GRCm39)	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,527,680 (GRCm39)		probably benign	Het
Col11a1	A	T	3: 114,010,650 (GRCm39)	I1689L	unknown	Het
Dnah6	T	G	6: 73,078,872 (GRCm39)	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,674,160 (GRCm39)		probably benign	Het
Fah	A	C	7: 84,238,836 (GRCm39)	N336K	probably damaging	Het
Fbxo11	A	T	17: 88,303,481 (GRCm39)	I664K		Het
Fcgbp	A	G	7: 27,789,180 (GRCm39)	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 71,313,663 (GRCm39)		probably null	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm1110	A	G	9: 26,831,936 (GRCm39)	Y72H	probably damaging	Het
Inpp5e	C	T	2: 26,298,389 (GRCm39)	A71T	possibly damaging	Het
Iqcm	C	T	8: 76,304,527 (GRCm39)	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 92,925,590 (GRCm39)		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 92,925,606 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,808,948 (GRCm39)	D206G	probably benign	Het
Map4k5	A	T	12: 69,903,630 (GRCm39)	D58E	probably damaging	Het
Mapkapk2	A	G	1: 130,984,250 (GRCm39)	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,702,545 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,146 (GRCm39)	S600P	probably damaging	Het
Mllt1	C	T	17: 57,203,300 (GRCm39)	V394M	probably benign	Het
Mllt1	C	A	17: 57,203,301 (GRCm39)	M393I	possibly damaging	Het
Nacc1	T	C	8: 85,402,848 (GRCm39)	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,891,047 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,050 (GRCm39)		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,801,434 (GRCm39)		probably benign	Het
Parp2	A	G	14: 51,054,843 (GRCm39)	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,006,686 (GRCm39)		probably null	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,504,788 (GRCm39)	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,600,829 (GRCm39)	D810N	probably damaging	Het
Prpf4b	T	A	13: 35,068,219 (GRCm39)	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,756,784 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,776,078 (GRCm39)	E208G	probably benign	Het
Smurf2	G	T	11: 106,743,413 (GRCm39)	P211Q	probably benign	Het
Snx25	C	A	8: 46,569,218 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,685,502 (GRCm39)	M469K	probably benign	Het
Spta1	G	T	1: 174,058,926 (GRCm39)	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564 (GRCm39)		probably benign	Het
Stard8	GAG	GAGTAG	X: 98,110,121 (GRCm39)		probably null	Het
Tfeb	AGC	AGCGGC	17: 48,097,027 (GRCm39)		probably benign	Het
Tlcd1	T	A	11: 78,071,020 (GRCm39)	L203Q	probably benign	Het
Tlr11	T	C	14: 50,598,682 (GRCm39)	F223L	possibly damaging	Het
Usp48	T	A	4: 137,333,106 (GRCm39)	V100D	probably damaging	Het
Vinac1	A	G	2: 128,880,714 (GRCm39)	F404S		Het
Vmn2r56	G	A	7: 12,428,757 (GRCm39)	T503I	probably benign	Het
Vps18	T	C	2: 119,127,871 (GRCm39)	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp706	T	A	15: 37,003,949 (GRCm39)	Y39F	probably benign	Het
Zhx3	T	A	2: 160,623,726 (GRCm39)	N147I	probably damaging	Het

Other mutations in Or5b122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02029:Or5b122	APN	19	13,563,468 (GRCm39)	missense	probably benign	0.05
IGL02104:Or5b122	APN	19	13,562,968 (GRCm39)	missense	probably damaging	0.99
IGL02502:Or5b122	APN	19	13,563,112 (GRCm39)	missense	probably damaging	1.00
IGL03339:Or5b122	APN	19	13,563,439 (GRCm39)	missense	probably damaging	0.99
IGL03391:Or5b122	APN	19	13,563,483 (GRCm39)	missense	probably benign
R0008:Or5b122	UTSW	19	13,563,240 (GRCm39)	missense	probably benign	0.01
R0607:Or5b122	UTSW	19	13,563,534 (GRCm39)	missense	probably damaging	1.00
R0892:Or5b122	UTSW	19	13,562,881 (GRCm39)	missense	probably damaging	1.00
R1170:Or5b122	UTSW	19	13,563,577 (GRCm39)	missense	probably benign	0.00
R1605:Or5b122	UTSW	19	13,562,994 (GRCm39)	missense	probably benign	0.00
R1619:Or5b122	UTSW	19	13,562,978 (GRCm39)	missense	probably benign	0.03
R1793:Or5b122	UTSW	19	13,562,779 (GRCm39)	missense	probably benign	0.42
R2073:Or5b122	UTSW	19	13,562,965 (GRCm39)	missense	probably damaging	1.00
R2348:Or5b122	UTSW	19	13,563,553 (GRCm39)	missense	probably damaging	0.99
R5025:Or5b122	UTSW	19	13,562,886 (GRCm39)	missense	probably benign	0.03
R5383:Or5b122	UTSW	19	13,563,439 (GRCm39)	missense	probably damaging	0.99
R5771:Or5b122	UTSW	19	13,562,872 (GRCm39)	missense	probably damaging	0.98
R6002:Or5b122	UTSW	19	13,562,781 (GRCm39)	start gained	probably benign
R6992:Or5b122	UTSW	19	13,562,811 (GRCm39)	missense	possibly damaging	0.57
R7404:Or5b122	UTSW	19	13,562,752 (GRCm39)	missense	possibly damaging	0.88
R8358:Or5b122	UTSW	19	13,562,764 (GRCm39)	missense	probably damaging	0.97
R8939:Or5b122	UTSW	19	13,562,860 (GRCm39)	missense	probably damaging	0.96
X0019:Or5b122	UTSW	19	13,563,573 (GRCm39)	missense	probably damaging	1.00
X0019:Or5b122	UTSW	19	13,563,572 (GRCm39)	missense	probably null	0.00
X0040:Or5b122	UTSW	19	13,563,573 (GRCm39)	missense	probably damaging	1.00
X0040:Or5b122	UTSW	19	13,563,572 (GRCm39)	missense	probably null	0.00
X0067:Or5b122	UTSW	19	13,563,436 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATCTTACTTGAGTGGACTCTTAC -3'
(R):5'- TCCAGCAACCTTCCTGACTG -3'

Sequencing Primer
(F):5'- ACTTGAGTGGACTCTTACAATCTTC -3'
(R):5'- AGCAACCTTCCTGACTGCATTC -3'

Posted On

2019-12-04