Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Or8k21'

529524

Institutional Source

Beutler Lab

Gene Symbol

Or8k21

Ensembl Gene

ENSMUSG00000075192

Gene Name

olfactory receptor family 8 subfamily K member 21

Synonyms

GA_x6K02T2Q125-47793414-47792471, MOR187-4, Olfr1053-ps1, Olfr1053

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86144687-86145628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86145409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 74 (S74P)

Ref Sequence

ENSEMBL: ENSMUSP00000097481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099897]

AlphaFold

L7MU59

Predicted Effect

probably damaging
Transcript: ENSMUST00000099897
AA Change: S74P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097481
Gene: ENSMUSG00000075192
AA Change: S74P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1e-45	PFAM
Pfam:7tm_1	41	290	1.2e-17	PFAM

Meta Mutation Damage Score

0.6763

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,181,997 (GRCm39)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm39)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,038,032 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,755,234 (GRCm39)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,771,973 (GRCm39)	T414S	probably benign	Het
Ces2b	A	T	8: 105,563,501 (GRCm39)	E409D	probably benign	Het
Cfap54	A	G	10: 92,656,981 (GRCm39)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,655,912 (GRCm39)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,766,635 (GRCm39)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm39)		probably null	Het
Cox15	A	G	19: 43,725,228 (GRCm39)	S392P	probably damaging	Het
Cplx3	A	G	9: 57,521,355 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,837,508 (GRCm39)	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,453,723 (GRCm39)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,009,381 (GRCm39)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,340,416 (GRCm39)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,016,012 (GRCm39)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,729,449 (GRCm39)	Q84*	probably null	Het
Eif4g3	T	A	4: 137,903,143 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,813 (GRCm39)	D866G	probably damaging	Het
Farsb	A	G	1: 78,449,134 (GRCm39)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,774,640 (GRCm39)	S138C	probably damaging	Het
Frem1	T	G	4: 82,932,069 (GRCm39)	S211R	probably damaging	Het
Gm19410	G	A	8: 36,274,730 (GRCm39)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,709,611 (GRCm39)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,661,654 (GRCm39)	E299G	probably benign	Het
Hao2	T	G	3: 98,784,451 (GRCm39)	I305L	probably benign	Het
Hectd4	C	T	5: 121,445,444 (GRCm39)	Q122*	probably null	Het
Hivep1	T	A	13: 42,317,760 (GRCm39)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,257,813 (GRCm39)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,542,126 (GRCm39)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,097,769 (GRCm39)	S708R	probably damaging	Het
Mmp15	A	G	8: 96,091,942 (GRCm39)	N51D	probably benign	Het
Naip1	T	C	13: 100,559,585 (GRCm39)	M1140V	probably benign	Het
Niban2	T	A	2: 32,795,838 (GRCm39)	V22D	probably damaging	Het
Or1e1f	A	G	11: 73,856,291 (GRCm39)	N286D	probably damaging	Het
Or2y8	A	G	11: 52,035,520 (GRCm39)	V279A	probably benign	Het
Or8b41	T	A	9: 38,054,449 (GRCm39)	M1K	probably null	Het
Pard3b	A	T	1: 62,198,629 (GRCm39)	N239I	probably damaging	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pcdha9	T	C	18: 37,131,122 (GRCm39)	S64P	probably damaging	Het
Pdcd1	T	C	1: 93,969,114 (GRCm39)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,143,916 (GRCm39)		probably null	Het
Plekha4	A	T	7: 45,190,310 (GRCm39)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,921,792 (GRCm39)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,249,082 (GRCm39)	T269S	probably benign	Het
Sltm	T	G	9: 70,480,992 (GRCm39)	D281E	probably damaging	Het
Zfp708	T	C	13: 67,219,496 (GRCm39)	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,263,497 (GRCm39)	V165D	possibly damaging	Het

Other mutations in Or8k21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Or8k21	APN	2	86,145,288 (GRCm39)	missense	probably damaging	1.00
IGL02063:Or8k21	APN	2	86,145,137 (GRCm39)	missense	possibly damaging	0.50
IGL02503:Or8k21	APN	2	86,144,983 (GRCm39)	missense	possibly damaging	0.71
IGL03342:Or8k21	APN	2	86,145,579 (GRCm39)	missense	possibly damaging	0.85
PIT4520001:Or8k21	UTSW	2	86,145,142 (GRCm39)	missense	possibly damaging	0.78
R0562:Or8k21	UTSW	2	86,144,869 (GRCm39)	missense	probably benign	0.00
R1026:Or8k21	UTSW	2	86,145,558 (GRCm39)	missense	possibly damaging	0.80
R1134:Or8k21	UTSW	2	86,145,525 (GRCm39)	missense	probably damaging	1.00
R1200:Or8k21	UTSW	2	86,145,477 (GRCm39)	missense	probably damaging	0.99
R1566:Or8k21	UTSW	2	86,145,129 (GRCm39)	missense	probably benign	0.01
R1588:Or8k21	UTSW	2	86,144,874 (GRCm39)	missense	probably damaging	1.00
R1747:Or8k21	UTSW	2	86,145,211 (GRCm39)	missense	probably benign	0.00
R1951:Or8k21	UTSW	2	86,145,504 (GRCm39)	missense	probably damaging	1.00
R1975:Or8k21	UTSW	2	86,145,498 (GRCm39)	missense	probably damaging	0.99
R2291:Or8k21	UTSW	2	86,145,524 (GRCm39)	nonsense	probably null
R2425:Or8k21	UTSW	2	86,144,739 (GRCm39)	missense	probably damaging	0.98
R5092:Or8k21	UTSW	2	86,144,706 (GRCm39)	missense	probably benign	0.00
R5651:Or8k21	UTSW	2	86,144,784 (GRCm39)	missense	probably benign	0.23
R5733:Or8k21	UTSW	2	86,145,558 (GRCm39)	missense	probably damaging	0.98
R5767:Or8k21	UTSW	2	86,144,742 (GRCm39)	missense	probably damaging	1.00
R6307:Or8k21	UTSW	2	86,145,468 (GRCm39)	missense	probably benign
R7067:Or8k21	UTSW	2	86,144,911 (GRCm39)	missense	probably damaging	1.00
R7289:Or8k21	UTSW	2	86,145,369 (GRCm39)	missense	probably benign	0.00
R7604:Or8k21	UTSW	2	86,145,244 (GRCm39)	missense	probably damaging	1.00
R7773:Or8k21	UTSW	2	86,145,034 (GRCm39)	missense	probably benign	0.01
R8345:Or8k21	UTSW	2	86,145,451 (GRCm39)	missense	probably damaging	1.00
R9246:Or8k21	UTSW	2	86,145,222 (GRCm39)	missense	probably damaging	0.99
R9454:Or8k21	UTSW	2	86,145,178 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTGAGACATGATCACACTGTAG -3'
(R):5'- CAACATCACTGCCTGGGTTC -3'

Sequencing Primer
(F):5'- TGTAGAGCAGAGGGTTGCAGATG -3'
(R):5'- TCTTGATGGGAATCACACAGC -3'

Posted On

2018-08-01