Mutagenetix > Incidental Mutation

Incidental Mutation 'R7799:Or52s1'

600434

Institutional Source

Beutler Lab

Gene Symbol

Or52s1

Ensembl Gene

ENSMUSG00000073955

Gene Name

olfactory receptor family 52 subfamily S member 1

Synonyms

MOR24-2, Olfr593, GA_x6K02T2PBJ9-5927412-5928362

MMRRC Submission

045854-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7799 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102861069-102862052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102861186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 40 (I40V)

Ref Sequence

ENSEMBL: ENSMUSP00000095807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098206] [ENSMUST00000210686]

AlphaFold

Q8VF28

Predicted Effect

probably benign
Transcript: ENSMUST00000098206
AA Change: I40V

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: I40V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	44	323	4.9e-106	PFAM
Pfam:7TM_GPCR_Srsx	48	320	2.6e-8	PFAM
Pfam:7tm_1	54	305	6.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210686
AA Change: I29V

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,362 (GRCm39)	V1517A	probably benign	Het
Adam17	C	A	12: 21,390,493 (GRCm39)	G410C	probably damaging	Het
Adcy3	A	G	12: 4,254,762 (GRCm39)	D698G	probably damaging	Het
Afap1	T	A	5: 36,131,742 (GRCm39)	N356K	possibly damaging	Het
Afm	A	G	5: 90,671,713 (GRCm39)	N132D	probably benign	Het
Bsdc1	T	A	4: 129,359,141 (GRCm39)		probably null	Het
Ccdc121rt2	T	G	5: 112,597,698 (GRCm39)	Y82D	not run	Het
Ccdc47	T	C	11: 106,101,143 (GRCm39)	E173G	possibly damaging	Het
Cit	T	G	5: 116,001,027 (GRCm39)	F142C	probably benign	Het
Cnga3	A	G	1: 37,300,852 (GRCm39)	D524G	probably damaging	Het
Cpne8	T	A	15: 90,424,450 (GRCm39)	D313V	probably damaging	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Flrt1	C	A	19: 7,073,229 (GRCm39)	L439F	possibly damaging	Het
Gkn1	A	T	6: 87,325,163 (GRCm39)	I82N	probably damaging	Het
Gm14410	C	A	2: 176,885,613 (GRCm39)	C217F	probably damaging	Het
Gm14412	G	T	2: 177,007,590 (GRCm39)	H102N	probably benign	Het
Gm3159	A	T	14: 4,397,585 (GRCm38)		probably benign	Het
Golm2	T	C	2: 121,764,022 (GRCm39)	V434A	probably benign	Het
Helz2	A	G	2: 180,879,782 (GRCm39)	M612T	probably benign	Het
Iars1	T	A	13: 49,876,494 (GRCm39)	I853N	probably damaging	Het
Kcna4	A	C	2: 107,126,237 (GRCm39)	I324L	possibly damaging	Het
Kcnh1	T	C	1: 192,117,183 (GRCm39)	S690P	probably damaging	Het
Kpna3	T	C	14: 61,622,182 (GRCm39)	Y194C	probably damaging	Het
Lrrc56	T	C	7: 140,789,515 (GRCm39)	S511P	probably damaging	Het
Ltbp1	A	G	17: 75,559,351 (GRCm39)	Y280C	probably damaging	Het
Macf1	A	G	4: 123,420,906 (GRCm39)	I116T	probably benign	Het
Mmp16	A	T	4: 18,112,112 (GRCm39)	N496I	probably damaging	Het
Mon2	T	C	10: 122,878,236 (GRCm39)	D229G	probably benign	Het
Or2b2	T	A	13: 21,887,369 (GRCm39)	L66Q	probably damaging	Het
Or2j6	A	T	7: 139,980,377 (GRCm39)	M194K	probably damaging	Het
Or5p61	T	A	7: 107,758,637 (GRCm39)	I148F	probably benign	Het
Or5w14	G	T	2: 87,541,428 (GRCm39)	T274K	possibly damaging	Het
Pkp1	A	G	1: 135,817,695 (GRCm39)	F147L	possibly damaging	Het
Ppp1r3e	T	C	14: 55,114,672 (GRCm39)	Q30R	probably damaging	Het
Ppp2r5b	C	A	19: 6,282,628 (GRCm39)	R174L	probably benign	Het
Pramel58	A	G	5: 94,831,287 (GRCm39)	D98G	possibly damaging	Het
Qrfprl	G	T	6: 65,433,121 (GRCm39)	A314S	possibly damaging	Het
Rbm15	C	T	3: 107,239,459 (GRCm39)	R313H	probably damaging	Het
Rgs18	A	G	1: 144,629,603 (GRCm39)	F219L	probably damaging	Het
Ryr1	T	C	7: 28,702,985 (GRCm39)		probably null	Het
Sirpd	T	A	3: 15,361,723 (GRCm39)		probably null	Het
Sirt4	T	G	5: 115,617,805 (GRCm39)	I284L	probably benign	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Syde1	A	G	10: 78,425,741 (GRCm39)	I142T	probably benign	Het
Synj2	A	G	17: 6,088,098 (GRCm39)	E1383G	probably benign	Het
Syt4	A	T	18: 31,573,245 (GRCm39)	C423*	probably null	Het
Tfr2	T	A	5: 137,569,986 (GRCm39)	Y131N	possibly damaging	Het
Tgm1	C	T	14: 55,949,932 (GRCm39)	R92Q	unknown	Het
Thoc1	A	T	18: 9,984,441 (GRCm39)	D309V	probably damaging	Het
Vmn2r24	C	T	6: 123,757,422 (GRCm39)	H97Y	probably benign	Het
Wbp1	A	T	6: 83,097,176 (GRCm39)	Y89*	probably null	Het
Wnk1	A	G	6: 119,926,137 (GRCm39)	L1358P	probably benign	Het
Zfp14	T	C	7: 29,738,368 (GRCm39)	T206A	possibly damaging	Het
Zfp748	T	C	13: 67,689,608 (GRCm39)	T551A	probably benign	Het
Zfp9	A	T	6: 118,441,843 (GRCm39)	V273E	probably damaging	Het

Other mutations in Or52s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Or52s1	APN	7	102,861,892 (GRCm39)	missense	probably damaging	1.00
IGL01636:Or52s1	APN	7	102,861,384 (GRCm39)	missense	probably benign
IGL01637:Or52s1	APN	7	102,861,384 (GRCm39)	missense	probably benign
IGL02115:Or52s1	APN	7	102,861,681 (GRCm39)	missense	probably damaging	1.00
IGL02668:Or52s1	APN	7	102,861,942 (GRCm39)	missense	possibly damaging	0.88
IGL03063:Or52s1	APN	7	102,861,841 (GRCm39)	missense	probably damaging	0.96
IGL03070:Or52s1	APN	7	102,861,904 (GRCm39)	missense	probably benign	0.02
IGL03114:Or52s1	APN	7	102,861,928 (GRCm39)	missense	probably damaging	1.00
R0144:Or52s1	UTSW	7	102,861,747 (GRCm39)	missense	probably damaging	1.00
R0238:Or52s1	UTSW	7	102,861,933 (GRCm39)	missense	possibly damaging	0.93
R0238:Or52s1	UTSW	7	102,861,933 (GRCm39)	missense	possibly damaging	0.93
R0239:Or52s1	UTSW	7	102,861,933 (GRCm39)	missense	possibly damaging	0.93
R0239:Or52s1	UTSW	7	102,861,933 (GRCm39)	missense	possibly damaging	0.93
R0309:Or52s1	UTSW	7	102,861,928 (GRCm39)	missense	probably damaging	1.00
R0602:Or52s1	UTSW	7	102,861,787 (GRCm39)	missense	possibly damaging	0.76
R0677:Or52s1	UTSW	7	102,862,005 (GRCm39)	nonsense	probably null
R0783:Or52s1	UTSW	7	102,861,877 (GRCm39)	missense	probably damaging	1.00
R1829:Or52s1	UTSW	7	102,861,093 (GRCm39)	missense	probably benign	0.01
R3840:Or52s1	UTSW	7	102,861,900 (GRCm39)	missense	probably damaging	1.00
R3841:Or52s1	UTSW	7	102,861,900 (GRCm39)	missense	probably damaging	1.00
R4449:Or52s1	UTSW	7	102,861,687 (GRCm39)	missense	probably benign	0.00
R4898:Or52s1	UTSW	7	102,861,747 (GRCm39)	missense	probably damaging	1.00
R5197:Or52s1	UTSW	7	102,861,207 (GRCm39)	missense	probably benign	0.02
R5285:Or52s1	UTSW	7	102,862,005 (GRCm39)	nonsense	probably null
R6548:Or52s1	UTSW	7	102,861,111 (GRCm39)	missense	probably benign	0.08
R7353:Or52s1	UTSW	7	102,861,516 (GRCm39)	missense	probably damaging	1.00
R7362:Or52s1	UTSW	7	102,861,861 (GRCm39)	missense	probably damaging	1.00
R7663:Or52s1	UTSW	7	102,861,652 (GRCm39)	missense	possibly damaging	0.74
R8405:Or52s1	UTSW	7	102,861,408 (GRCm39)	missense	probably benign	0.31
R8835:Or52s1	UTSW	7	102,861,928 (GRCm39)	missense	probably damaging	1.00
R9417:Or52s1	UTSW	7	102,861,156 (GRCm39)	missense	possibly damaging	0.51
R9429:Or52s1	UTSW	7	102,861,871 (GRCm39)	missense	possibly damaging	0.74
X0067:Or52s1	UTSW	7	102,861,255 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ATCCAGCATAAAAGGTATTCCCTG -3'
(R):5'- TCTCCATCGTGAAACCAGAAG -3'

Sequencing Primer
(F):5'- GGTATTCCCTGTACCTTTAACAAAG -3'
(R):5'- TCCATCGTGAAACCAGAAGAGACTG -3'

Posted On

2019-11-26