Mutagenetix > Incidental Mutation

Incidental Mutation 'R5671:Or5b21'

442654

Institutional Source

Beutler Lab

Gene Symbol

Or5b21

Ensembl Gene

ENSMUSG00000046272

Gene Name

olfactory receptor family 5 subfamily B member 21

Synonyms

Olfr1444, GA_x6K02T2RE5P-3191201-3192160, MOR202-4

MMRRC Submission

043314-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R5671 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12839141-12840100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12839171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 11 (T11S)

Ref Sequence

ENSEMBL: ENSMUSP00000150212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059675] [ENSMUST00000213606]

AlphaFold

Q8VFX2

Predicted Effect

probably benign
Transcript: ENSMUST00000059675
AA Change: T11S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000062460
Gene: ENSMUSG00000046272
AA Change: T11S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	1.6e-54	PFAM
Pfam:7tm_1	42	291	5.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213606
AA Change: T11S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.1842

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ak2	T	A	4: 128,902,040 (GRCm39)	F238I	probably damaging	Het
Akap8l	T	C	17: 32,557,266 (GRCm39)	Y115C	probably damaging	Het
Alms1	T	A	6: 85,606,190 (GRCm39)	N2613K	possibly damaging	Het
Antxr1	C	T	6: 87,194,255 (GRCm39)		probably null	Het
Ap3b1	A	T	13: 94,664,765 (GRCm39)	R901S	unknown	Het
Arhgap45	A	G	10: 79,861,310 (GRCm39)	E491G	probably damaging	Het
Capn11	C	T	17: 45,950,600 (GRCm39)	R293Q	possibly damaging	Het
Cdx1	C	T	18: 61,152,971 (GRCm39)	V212I	probably benign	Het
Clca4b	G	A	3: 144,627,624 (GRCm39)	T449I	probably benign	Het
Clec14a	T	C	12: 58,314,612 (GRCm39)	I337V	probably benign	Het
Clip4	A	C	17: 72,096,878 (GRCm39)	M1L	probably damaging	Het
Exoc3l4	T	C	12: 111,389,851 (GRCm39)	I142T	probably damaging	Het
Flnb	T	A	14: 7,890,843 (GRCm38)	I575N	probably benign	Het
Gad1-ps	A	T	10: 99,280,395 (GRCm39)		noncoding transcript	Het
Golga7	C	T	8: 23,740,360 (GRCm39)	A57T	probably damaging	Het
Gpa33	A	G	1: 165,974,360 (GRCm39)	T66A	possibly damaging	Het
Gpr141b	A	G	13: 19,913,465 (GRCm39)		noncoding transcript	Het
Gpr45	A	G	1: 43,072,218 (GRCm39)	Y287C	probably damaging	Het
H2-Eb1	C	A	17: 34,533,229 (GRCm39)	Y150*	probably null	Het
Hsd17b8	T	C	17: 34,245,435 (GRCm39)	D233G	probably null	Het
Ifna6	A	T	4: 88,745,906 (GRCm39)	Q85L	probably damaging	Het
Igkv9-120	G	A	6: 68,027,257 (GRCm39)	W57*	probably null	Het
Ivns1abp	G	T	1: 151,229,760 (GRCm39)	L149F	probably benign	Het
Kank4	A	G	4: 98,653,698 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,066,540 (GRCm39)	C1114S	probably damaging	Het
Lmbr1l	A	C	15: 98,805,489 (GRCm39)	D337E	possibly damaging	Het
Ly75	T	C	2: 60,138,655 (GRCm39)	D1404G	probably damaging	Het
Muc4	A	G	16: 32,575,011 (GRCm39)	T1199A	probably benign	Het
Nalcn	A	G	14: 123,532,818 (GRCm39)	I1314T	probably damaging	Het
Nhlrc1	A	G	13: 47,167,193 (GRCm39)	F355L	probably benign	Het
Or2y16	T	C	11: 49,335,140 (GRCm39)	V154A	probably benign	Het
Or4k39	C	T	2: 111,238,818 (GRCm39)		noncoding transcript	Het
Pcsk1	A	G	13: 75,246,026 (GRCm39)	T135A	possibly damaging	Het
Ptpru	T	A	4: 131,547,501 (GRCm39)	Y112F	possibly damaging	Het
Rbbp8	A	G	18: 11,875,699 (GRCm39)	S871G	probably benign	Het
Rhoj	A	T	12: 75,440,743 (GRCm39)	I135F	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Semp2l2b	T	A	10: 21,942,742 (GRCm39)	T413S	possibly damaging	Het
Ska1	G	T	18: 74,330,067 (GRCm39)	D224E	probably damaging	Het
Slc11a2	A	G	15: 100,301,169 (GRCm39)	Y295H	probably damaging	Het
Slc22a28	A	T	19: 8,108,795 (GRCm39)	C116S	probably damaging	Het
Synpo	T	C	18: 60,729,022 (GRCm39)	D1060G	probably damaging	Het
Tectb	T	C	19: 55,181,059 (GRCm39)	S310P	probably benign	Het
Tmc6	A	G	11: 117,666,441 (GRCm39)	S288P	possibly damaging	Het
Tpo	A	G	12: 30,169,490 (GRCm39)	S82P	probably benign	Het
Ttyh3	T	A	5: 140,617,307 (GRCm39)	M321L	probably benign	Het
Usp8	A	G	2: 126,584,345 (GRCm39)	D518G	probably benign	Het
Vmn2r11	A	G	5: 109,202,772 (GRCm39)	W102R	probably benign	Het
Vps13a	G	A	19: 16,692,464 (GRCm39)	H817Y	probably benign	Het
Vps51	A	G	19: 6,118,224 (GRCm39)	V757A	probably benign	Het
Washc4	T	C	10: 83,405,892 (GRCm39)	S463P	probably damaging	Het
Zfp423	T	C	8: 88,508,955 (GRCm39)	N442S	probably damaging	Het

Other mutations in Or5b21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Or5b21	APN	19	12,839,231 (GRCm39)	missense	probably benign	0.00
IGL01963:Or5b21	APN	19	12,839,746 (GRCm39)	missense	probably benign	0.00
IGL02030:Or5b21	APN	19	12,839,799 (GRCm39)	missense	probably benign	0.00
IGL02178:Or5b21	APN	19	12,839,907 (GRCm39)	missense	possibly damaging	0.49
IGL02641:Or5b21	APN	19	12,839,566 (GRCm39)	nonsense	probably null
R0311:Or5b21	UTSW	19	12,839,233 (GRCm39)	missense	probably benign	0.01
R0543:Or5b21	UTSW	19	12,839,252 (GRCm39)	missense	probably benign	0.00
R0815:Or5b21	UTSW	19	12,840,008 (GRCm39)	missense	probably benign	0.00
R2034:Or5b21	UTSW	19	12,839,151 (GRCm39)	missense	possibly damaging	0.82
R2078:Or5b21	UTSW	19	12,839,751 (GRCm39)	missense	probably benign	0.05
R2431:Or5b21	UTSW	19	12,839,970 (GRCm39)	missense	probably damaging	1.00
R3032:Or5b21	UTSW	19	12,839,282 (GRCm39)	missense	probably benign	0.00
R3932:Or5b21	UTSW	19	12,839,994 (GRCm39)	missense	possibly damaging	0.95
R4498:Or5b21	UTSW	19	12,840,033 (GRCm39)	missense	probably damaging	1.00
R4654:Or5b21	UTSW	19	12,839,596 (GRCm39)	nonsense	probably null
R4708:Or5b21	UTSW	19	12,839,261 (GRCm39)	missense	probably benign	0.00
R4823:Or5b21	UTSW	19	12,839,180 (GRCm39)	missense	probably benign	0.04
R4938:Or5b21	UTSW	19	12,839,916 (GRCm39)	missense	probably damaging	1.00
R4980:Or5b21	UTSW	19	12,839,384 (GRCm39)	missense	probably benign
R5580:Or5b21	UTSW	19	12,839,168 (GRCm39)	missense	possibly damaging	0.59
R5622:Or5b21	UTSW	19	12,839,663 (GRCm39)	missense	probably benign	0.08
R6149:Or5b21	UTSW	19	12,839,723 (GRCm39)	missense	probably benign	0.02
R6683:Or5b21	UTSW	19	12,840,014 (GRCm39)	missense	probably damaging	0.98
R7389:Or5b21	UTSW	19	12,839,981 (GRCm39)	missense	probably benign	0.04
R7392:Or5b21	UTSW	19	12,839,951 (GRCm39)	missense	probably benign	0.18
R7461:Or5b21	UTSW	19	12,839,141 (GRCm39)	start codon destroyed	probably benign	0.00
R7613:Or5b21	UTSW	19	12,839,141 (GRCm39)	start codon destroyed	probably benign	0.00
R7698:Or5b21	UTSW	19	12,840,077 (GRCm39)	missense	possibly damaging	0.69
R7717:Or5b21	UTSW	19	12,839,159 (GRCm39)	missense	probably benign	0.07
R7892:Or5b21	UTSW	19	12,839,843 (GRCm39)	nonsense	probably null
R9151:Or5b21	UTSW	19	12,839,976 (GRCm39)	missense	probably damaging	1.00
R9656:Or5b21	UTSW	19	12,839,247 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5b21	UTSW	19	12,839,648 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCACATCCAGTTTGAACTCAG -3'
(R):5'- CCAGATCTACAAAGGACAGGTTAC -3'

Sequencing Primer
(F):5'- TGACTTTGACCTTTATTAAGCTGTC -3'
(R):5'- GGTTACTGAGGAAAAAGTACATGG -3'

Posted On

2016-11-09