Mutagenetix > Incidental Mutation

Incidental Mutation 'R7827:Or5b120'

602296

Institutional Source

Beutler Lab

Gene Symbol

Or5b120

Ensembl Gene

ENSMUSG00000071629

Gene Name

olfactory receptor family 5 subfamily B member 120

Synonyms

Olfr1477, MOR202-10, GA_x6K02T2RE5P-3834960-3835907

MMRRC Submission

045881-MU

Accession Numbers

Essential gene?

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

Stock #

R7827 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13477910-13480656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 13480587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 293 (N293K)

Ref Sequence

ENSEMBL: ENSMUSP00000149565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214274] [ENSMUST00000217001]

AlphaFold

Q7TQQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000214274
AA Change: N293K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217001
AA Change: N293K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,651,112 (GRCm39)	N78S	probably damaging	Het
Abca12	G	A	1: 71,453,837 (GRCm39)		probably benign	Het
Abcb1b	T	C	5: 8,887,747 (GRCm39)	S878P	probably damaging	Het
Adamts20	T	C	15: 94,223,814 (GRCm39)	R1305G	probably damaging	Het
Adcy2	A	T	13: 68,837,400 (GRCm39)	C650S	probably damaging	Het
Ahnak	A	T	19: 8,982,708 (GRCm39)	K1331*	probably null	Het
Alpk1	A	T	3: 127,473,700 (GRCm39)	S768T	probably benign	Het
Ap4b1	T	G	3: 103,722,398 (GRCm39)	L124R	probably damaging	Het
Arrdc2	A	T	8: 71,292,038 (GRCm39)	F3Y	probably damaging	Het
Atp9a	A	G	2: 168,547,114 (GRCm39)	V155A	probably benign	Het
Bptf	A	G	11: 106,938,013 (GRCm39)	S87P	probably benign	Het
Carmil1	A	T	13: 24,220,421 (GRCm39)	M697K	probably benign	Het
Ccdc42	G	A	11: 68,485,022 (GRCm39)	V32M	probably benign	Het
Cert1	A	G	13: 96,753,563 (GRCm39)	H391R	probably damaging	Het
Ces1d	A	G	8: 93,924,294 (GRCm39)		probably null	Het
Dcpp2	T	G	17: 24,119,566 (GRCm39)	Y127D	probably damaging	Het
Def8	C	A	8: 124,174,060 (GRCm39)	T7K	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
En2	G	A	5: 28,371,594 (GRCm39)	G24S	probably benign	Het
Evi2a	T	C	11: 79,418,688 (GRCm39)		probably benign	Het
Fam117b	A	T	1: 59,952,837 (GRCm39)	H172L	possibly damaging	Het
Fam169b	A	G	7: 67,954,338 (GRCm39)	I67M	probably benign	Het
Fbxo40	T	A	16: 36,789,861 (GRCm39)	E416D	probably damaging	Het
Gja8	T	A	3: 96,827,635 (GRCm39)	N9I	possibly damaging	Het
Gsg1l2	T	A	11: 67,676,097 (GRCm39)	C154S	probably benign	Het
Hdhd3	C	A	4: 62,418,232 (GRCm39)		probably benign	Het
Hunk	C	T	16: 90,278,214 (GRCm39)	P341L	possibly damaging	Het
Ighv8-5	T	C	12: 115,031,258 (GRCm39)	T94A	possibly damaging	Het
Ints3	T	C	3: 90,331,319 (GRCm39)	N75D	probably benign	Het
Krt39	T	C	11: 99,409,901 (GRCm39)	E212G	probably damaging	Het
Ldlrad4	A	G	18: 68,387,495 (GRCm39)	H269R	probably damaging	Het
Lrrc2	T	A	9: 110,790,049 (GRCm39)	V102E	possibly damaging	Het
Ltbp2	T	A	12: 84,836,655 (GRCm39)	I1292L	probably benign	Het
Mad2l1bp	A	T	17: 46,458,993 (GRCm39)	V179E	possibly damaging	Het
Map3k1	A	G	13: 111,892,663 (GRCm39)	V864A	probably benign	Het
Mapk8ip2	T	G	15: 89,342,322 (GRCm39)	V511G	probably damaging	Het
Mknk2	A	C	10: 80,503,021 (GRCm39)	S434A	probably benign	Het
Mllt11	A	G	3: 95,127,548 (GRCm39)	F74S	probably damaging	Het
Muc16	G	T	9: 18,506,519 (GRCm39)	T6412K	possibly damaging	Het
Nek5	C	A	8: 22,573,403 (GRCm39)	A518S	possibly damaging	Het
Npy1r	T	C	8: 67,156,864 (GRCm39)	F95L	possibly damaging	Het
Nup98	G	A	7: 101,773,569 (GRCm39)	T1586I	probably benign	Het
Olig3	A	T	10: 19,232,518 (GRCm39)	M48L	probably benign	Het
Or13n4	A	G	7: 106,422,932 (GRCm39)	M267T	probably benign	Het
Or14j7	T	A	17: 38,234,568 (GRCm39)	L37*	probably null	Het
Or6aa1	T	A	7: 86,043,765 (GRCm39)	K314*	probably null	Het
Pcdhb16	A	G	18: 37,611,904 (GRCm39)	D288G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,790,886 (GRCm39)	I687V	probably benign	Het
Piezo1	G	A	8: 123,209,659 (GRCm39)	T2348M	probably damaging	Het
Plod3	A	G	5: 137,018,835 (GRCm39)	T291A	probably benign	Het
Pmpca	G	A	2: 26,280,144 (GRCm39)	V89I	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pou6f2	C	A	13: 18,553,092 (GRCm39)	A81S		Het
Ppl	T	A	16: 4,905,828 (GRCm39)	E1489V	probably damaging	Het
Ptpdc1	A	G	13: 48,733,264 (GRCm39)	F792S	probably damaging	Het
Pus1	A	G	5: 110,927,582 (GRCm39)	Y58H	probably damaging	Het
Rex2	C	A	4: 147,142,547 (GRCm39)	T345N	possibly damaging	Het
Rnf144a	T	C	12: 26,389,439 (GRCm39)	M1V	probably null	Het
Siglec15	A	T	18: 78,100,445 (GRCm39)	C13*	probably null	Het
Skint10	G	A	4: 112,632,003 (GRCm39)	Q6*	probably null	Het
Slc5a1	T	C	5: 33,304,057 (GRCm39)	W291R	probably damaging	Het
Snx27	A	G	3: 94,426,366 (GRCm39)	F378L	probably benign	Het
Strip2	A	T	6: 29,923,928 (GRCm39)	T81S	probably benign	Het
Tas2r143	A	G	6: 42,377,656 (GRCm39)	N162S	probably damaging	Het
Tatdn1	T	C	15: 58,776,607 (GRCm39)	D256G	probably benign	Het
Tbc1d5	A	G	17: 51,089,291 (GRCm39)	S630P	probably damaging	Het
Tlr11	A	G	14: 50,598,611 (GRCm39)	D199G	probably benign	Het
Tmed8	C	A	12: 87,246,991 (GRCm39)		probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	TAA	TAAAGCAA	6: 113,376,123 (GRCm39)		probably null	Het
U2af2	T	C	7: 5,077,661 (GRCm39)		probably null	Het
Ywhag	C	T	5: 135,940,394 (GRCm39)	E67K	probably damaging	Het
Zfp105	A	G	9: 122,759,808 (GRCm39)	H493R	probably damaging	Het
Zfp426	A	T	9: 20,381,446 (GRCm39)	C514S	probably damaging	Het
Zfp536	T	A	7: 37,269,113 (GRCm39)	D101V	probably damaging	Het

Other mutations in Or5b120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01926:Or5b120	APN	19	13,480,105 (GRCm39)	missense	possibly damaging	0.55
IGL02394:Or5b120	APN	19	13,480,228 (GRCm39)	missense	probably damaging	0.97
R0047:Or5b120	UTSW	19	13,479,953 (GRCm39)	missense	probably benign	0.30
R0047:Or5b120	UTSW	19	13,479,953 (GRCm39)	missense	probably benign	0.30
R0356:Or5b120	UTSW	19	13,480,441 (GRCm39)	missense	possibly damaging	0.74
R0617:Or5b120	UTSW	19	13,479,900 (GRCm39)	missense	probably damaging	1.00
R1589:Or5b120	UTSW	19	13,480,121 (GRCm39)	missense	probably benign	0.03
R1725:Or5b120	UTSW	19	13,479,883 (GRCm39)	missense	probably damaging	1.00
R2153:Or5b120	UTSW	19	13,479,852 (GRCm39)	missense	probably damaging	1.00
R2362:Or5b120	UTSW	19	13,479,872 (GRCm39)	missense	probably damaging	1.00
R3402:Or5b120	UTSW	19	13,480,312 (GRCm39)	missense	probably benign	0.11
R4513:Or5b120	UTSW	19	13,479,986 (GRCm39)	missense	probably benign	0.05
R5197:Or5b120	UTSW	19	13,479,748 (GRCm39)	missense	possibly damaging	0.68
R5205:Or5b120	UTSW	19	13,480,163 (GRCm39)	missense	probably damaging	1.00
R5511:Or5b120	UTSW	19	13,480,556 (GRCm39)	missense	probably benign	0.12
R5838:Or5b120	UTSW	19	13,479,922 (GRCm39)	missense	probably damaging	1.00
R6023:Or5b120	UTSW	19	13,480,067 (GRCm39)	missense	probably damaging	1.00
R6232:Or5b120	UTSW	19	13,480,427 (GRCm39)	missense	probably damaging	1.00
R6700:Or5b120	UTSW	19	13,480,177 (GRCm39)	missense	probably damaging	0.97
R6769:Or5b120	UTSW	19	13,480,318 (GRCm39)	missense	possibly damaging	0.83
R6771:Or5b120	UTSW	19	13,480,318 (GRCm39)	missense	possibly damaging	0.83
R7002:Or5b120	UTSW	19	13,480,039 (GRCm39)	missense	probably benign	0.00
R7057:Or5b120	UTSW	19	13,480,243 (GRCm39)	missense	probably damaging	1.00
R7320:Or5b120	UTSW	19	13,480,544 (GRCm39)	missense	possibly damaging	0.89
R7913:Or5b120	UTSW	19	13,480,571 (GRCm39)	missense	probably damaging	1.00
R9199:Or5b120	UTSW	19	13,480,436 (GRCm39)	missense	probably damaging	1.00
R9286:Or5b120	UTSW	19	13,479,791 (GRCm39)	missense	possibly damaging	0.88
R9523:Or5b120	UTSW	19	13,479,712 (GRCm39)	missense	probably benign
R9606:Or5b120	UTSW	19	13,479,943 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGAAGAAGGCCATTTCCAC -3'
(R):5'- GTGGTCAGTATTGGGTATCCTAATATC -3'

Sequencing Primer
(F):5'- GAAGAAGGCCATTTCCACCTGTG -3'
(R):5'- GAATATGCCCGGAACTACAA -3'

Posted On

2019-12-03