Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Or52ad1'

23227

Institutional Source

Beutler Lab

Gene Symbol

Or52ad1

Ensembl Gene

ENSMUSG00000045540

Gene Name

olfactory receptor family 52 subfamily AD member 1

Synonyms

Olfr600, MOR39-1, GA_x6K02T2PBJ9-6056235-6055291

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0193 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

102995189-102996133 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102995411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 241 (S241R)

Ref Sequence

ENSEMBL: ENSMUSP00000148967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056222] [ENSMUST00000215042]

AlphaFold

E9PUN7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056222
AA Change: S241R

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: S241R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.1e-97	PFAM
Pfam:7TM_GPCR_Srsx	37	226	1.2e-12	PFAM
Pfam:7tm_1	43	305	7.2e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215042
AA Change: S241R

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,444,005 (GRCm39)	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,561,292 (GRCm39)		probably benign	Het
Atp2a3	G	T	11: 72,863,046 (GRCm39)	V99L	possibly damaging	Het
Atp6v0a1	T	A	11: 100,939,308 (GRCm39)	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,694,707 (GRCm39)	R525Q	probably benign	Het
Aurkb	A	G	11: 68,939,370 (GRCm39)	D151G	probably damaging	Het
Bank1	A	T	3: 135,772,279 (GRCm39)		probably benign	Het
Bcl9l	T	C	9: 44,418,703 (GRCm39)	L847P	probably damaging	Het
Bscl2	T	A	19: 8,824,793 (GRCm39)	M292K	probably benign	Het
Cacna1c	C	T	6: 118,579,363 (GRCm39)		probably benign	Het
Cadps2	T	C	6: 23,599,439 (GRCm39)	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,893,460 (GRCm39)	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803 (GRCm39)	E145K	probably benign	Het
Ccno	C	T	13: 113,125,418 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,784,202 (GRCm39)	D70G	probably benign	Het
Cenpc1	T	C	5: 86,180,262 (GRCm39)	D670G	probably benign	Het
Cenpl	A	G	1: 160,913,558 (GRCm39)	I323V	probably damaging	Het
Cfap44	A	G	16: 44,269,573 (GRCm39)		probably null	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,139,627 (GRCm39)	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Coro7	G	A	16: 4,445,368 (GRCm39)		probably benign	Het
Dchs1	C	T	7: 105,414,190 (GRCm39)	R875H	probably benign	Het
Eif3j1	A	C	2: 121,882,508 (GRCm39)	M239L	probably benign	Het
Eif4g3	G	T	4: 137,873,687 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Erbb4	T	C	1: 68,083,119 (GRCm39)		probably benign	Het
Erlin2	T	G	8: 27,521,792 (GRCm39)	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,162,029 (GRCm39)	Q393K	probably benign	Het
Fcgr4	A	T	1: 170,853,329 (GRCm39)	N178I	possibly damaging	Het
Grid2	A	G	6: 64,040,937 (GRCm39)	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,982,224 (GRCm39)	V126I	probably benign	Het
Htr1f	T	A	16: 64,747,112 (GRCm39)	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,388,646 (GRCm39)		probably null	Het
Impg2	A	T	16: 56,085,412 (GRCm39)	K931*	probably null	Het
Ints1	T	C	5: 139,737,485 (GRCm39)	E2176G	probably damaging	Het
Iqsec2	T	C	X: 151,006,399 (GRCm39)	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,387,683 (GRCm39)	D685E	probably damaging	Het
Itgbl1	G	A	14: 124,083,958 (GRCm39)	V279I	probably benign	Het
Kdm4b	C	T	17: 56,700,952 (GRCm39)	A541V	probably benign	Het
Kif14	A	T	1: 136,396,176 (GRCm39)	T161S	probably benign	Het
Krt86	T	C	15: 101,377,244 (GRCm39)		probably benign	Het
Kyat1	C	T	2: 30,077,198 (GRCm39)		probably null	Het
Limch1	T	C	5: 67,184,882 (GRCm39)	W791R	probably damaging	Het
Map3k11	T	A	19: 5,745,874 (GRCm39)	M396K	probably damaging	Het
Mat2a	A	G	6: 72,413,178 (GRCm39)		probably null	Het
Mbnl2	A	G	14: 120,616,649 (GRCm39)	I88V	possibly damaging	Het
Mib2	T	C	4: 155,740,130 (GRCm39)	T708A	probably benign	Het
Mix23	T	C	16: 35,903,184 (GRCm39)	S59P	probably damaging	Het
Mkks	T	C	2: 136,719,526 (GRCm39)		probably null	Het
Mtss1	T	C	15: 58,815,866 (GRCm39)	M565V	probably damaging	Het
Myoc	A	G	1: 162,476,604 (GRCm39)	N436S	probably damaging	Het
Myod1	T	A	7: 46,026,536 (GRCm39)	V147E	probably damaging	Het
Ngef	A	G	1: 87,437,056 (GRCm39)	L144P	probably benign	Het
Ngrn	C	T	7: 79,911,678 (GRCm39)	R92W	probably damaging	Het
Nup153	G	A	13: 46,863,130 (GRCm39)	T349I	probably benign	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Pigl	A	G	11: 62,394,574 (GRCm39)	I135M	probably damaging	Het
Pitpnm3	A	G	11: 71,961,318 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,429,141 (GRCm39)	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,467,923 (GRCm39)	T119M	probably damaging	Het
Prr29	A	G	11: 106,267,722 (GRCm39)	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 26,209,973 (GRCm39)	I1048V	probably damaging	Het
Rab12	G	A	17: 66,807,357 (GRCm39)	T124I	probably damaging	Het
Rab44	A	G	17: 29,359,281 (GRCm39)	S490G	probably benign	Het
Rasa3	A	G	8: 13,620,233 (GRCm39)		probably null	Het
Rhbdl3	C	T	11: 80,244,400 (GRCm39)	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,865,420 (GRCm39)	S643T	probably benign	Het
Rin1	T	G	19: 5,102,680 (GRCm39)	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,396,198 (GRCm39)	G28S	probably damaging	Het
Rtl9	T	A	X: 141,883,274 (GRCm39)	S229T	probably damaging	Het
Rufy1	G	T	11: 50,280,679 (GRCm39)	T701N	probably benign	Het
Scn4a	A	T	11: 106,211,364 (GRCm39)	L1551*	probably null	Het
Sec24b	T	C	3: 129,782,633 (GRCm39)	N1119S	probably null	Het
Serbp1	T	A	6: 67,249,868 (GRCm39)	*75R	probably null	Het
Setx	C	T	2: 29,069,685 (GRCm39)	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,250,140 (GRCm39)	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,243,510 (GRCm39)	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,012,669 (GRCm39)	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,312 (GRCm39)	D523V	possibly damaging	Het
Traf7	G	T	17: 24,729,525 (GRCm39)	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,549,428 (GRCm39)	V6F	probably damaging	Het
Tsacc	A	T	3: 88,194,395 (GRCm39)		probably benign	Het
Vmn2r5	A	G	3: 64,398,951 (GRCm39)	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,460 (GRCm39)	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,217,129 (GRCm39)	V487A	probably damaging	Het
Zbtb47	T	C	9: 121,596,732 (GRCm39)	V696A	probably damaging	Het
Zfp287	A	T	11: 62,605,855 (GRCm39)	S351T	probably benign	Het
Zfp654	T	C	16: 64,606,051 (GRCm39)	H176R	possibly damaging	Het

Other mutations in Or52ad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Or52ad1	APN	7	102,995,386 (GRCm39)	missense	probably benign	0.15
IGL02239:Or52ad1	APN	7	102,995,805 (GRCm39)	missense	probably damaging	1.00
IGL02285:Or52ad1	APN	7	102,995,245 (GRCm39)	nonsense	probably null
IGL02547:Or52ad1	APN	7	102,995,451 (GRCm39)	missense	probably damaging	1.00
IGL03149:Or52ad1	APN	7	102,996,056 (GRCm39)	missense	probably benign	0.00
R0304:Or52ad1	UTSW	7	102,995,918 (GRCm39)	missense	probably damaging	1.00
R0454:Or52ad1	UTSW	7	102,996,085 (GRCm39)	missense	probably benign	0.02
R0622:Or52ad1	UTSW	7	102,996,064 (GRCm39)	missense	probably damaging	0.97
R1988:Or52ad1	UTSW	7	102,995,316 (GRCm39)	missense	possibly damaging	0.88
R1989:Or52ad1	UTSW	7	102,995,316 (GRCm39)	missense	possibly damaging	0.88
R2937:Or52ad1	UTSW	7	102,995,272 (GRCm39)	missense	probably benign	0.18
R4426:Or52ad1	UTSW	7	102,995,290 (GRCm39)	missense	probably damaging	1.00
R5362:Or52ad1	UTSW	7	102,995,454 (GRCm39)	missense	probably damaging	1.00
R5723:Or52ad1	UTSW	7	102,995,826 (GRCm39)	missense	possibly damaging	0.85
R6793:Or52ad1	UTSW	7	102,995,473 (GRCm39)	missense	probably benign	0.00
R6863:Or52ad1	UTSW	7	102,996,123 (GRCm39)	missense	possibly damaging	0.86
R6935:Or52ad1	UTSW	7	102,996,002 (GRCm39)	missense	probably damaging	1.00
R6983:Or52ad1	UTSW	7	102,996,022 (GRCm39)	missense	probably benign	0.00
R7262:Or52ad1	UTSW	7	102,995,764 (GRCm39)	missense	probably damaging	1.00
R7313:Or52ad1	UTSW	7	102,995,538 (GRCm39)	missense	probably benign	0.06
R7774:Or52ad1	UTSW	7	102,995,737 (GRCm39)	missense	possibly damaging	0.85
R9246:Or52ad1	UTSW	7	102,995,908 (GRCm39)	missense	probably damaging	0.96
R9542:Or52ad1	UTSW	7	102,995,569 (GRCm39)	missense	probably benign	0.00
X0018:Or52ad1	UTSW	7	102,996,106 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTTCAATATCCGCAATACCCGCTC -3'
(R):5'- ATGGCACTGGCTATACTGGCAAGG -3'

Sequencing Primer
(F):5'- GCAATACCCGCTCCCTTATC -3'
(R):5'- CCAAACCCAGGTCATTAGTTATTC -3'

Posted On

2013-04-16