Mutagenetix > Incidental Mutation

Incidental Mutation 'R7035:Or5p52'

546604

Institutional Source

Beutler Lab

Gene Symbol

Or5p52

Ensembl Gene

ENSMUSG00000073893

Gene Name

olfactory receptor family 5 subfamily P member 52

Synonyms

Olfr472, GA_x6K02T2PBJ9-10231953-10232885, MOR204-5

MMRRC Submission

045136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107501926-107502858 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107502140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 72 (V72A)

Ref Sequence

ENSEMBL: ENSMUSP00000150404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]

AlphaFold

Q8VG43

Predicted Effect

probably benign
Transcript: ENSMUST00000209670
AA Change: V72A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210420
AA Change: V72A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216937
AA Change: V72A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,272 (GRCm39)	F78I	probably benign	Het
1700102P08Rik	A	T	9: 108,272,510 (GRCm39)	D140V	possibly damaging	Het
6430548M08Rik	A	T	8: 120,879,225 (GRCm39)	S208C	probably damaging	Het
Abcd4	G	T	12: 84,662,123 (GRCm39)	T41K	probably damaging	Het
Acaca	C	T	11: 84,129,769 (GRCm39)	R375C	probably damaging	Het
Acad11	T	A	9: 103,990,694 (GRCm39)	V433D	probably damaging	Het
Adal	T	A	2: 120,985,942 (GRCm39)	C226S	probably benign	Het
Aldh3b2	A	T	19: 4,028,142 (GRCm39)	M95L	probably benign	Het
Ano4	A	G	10: 88,790,573 (GRCm39)	F842S	probably damaging	Het
Ap5s1	T	C	2: 131,054,732 (GRCm39)	F181S	probably damaging	Het
Apba1	G	A	19: 23,894,931 (GRCm39)	D456N	possibly damaging	Het
Armh4	T	A	14: 50,010,507 (GRCm39)	H400L	possibly damaging	Het
Atp6v0a1	A	C	11: 100,918,183 (GRCm39)	Q199H	probably damaging	Het
Atp8a1	C	G	5: 67,938,373 (GRCm39)	G161A	probably benign	Het
Atxn2	C	T	5: 121,949,530 (GRCm39)	Q61*	probably null	Het
Cacna2d1	T	A	5: 16,451,670 (GRCm39)	I178K	probably damaging	Het
Catsperb	A	C	12: 101,381,593 (GRCm39)	T92P	probably damaging	Het
Ccdc175	A	G	12: 72,202,419 (GRCm39)	I292T	probably benign	Het
Cep290	T	A	10: 100,334,933 (GRCm39)	S318T	probably benign	Het
Cfb	T	A	17: 35,079,007 (GRCm39)	Y826F	possibly damaging	Het
Cntn1	C	A	15: 92,212,392 (GRCm39)	D851E	probably benign	Het
Coq6	A	G	12: 84,415,415 (GRCm39)	D146G	probably damaging	Het
Crem	G	A	18: 3,327,503 (GRCm39)	T12I	probably damaging	Het
Dennd4c	G	A	4: 86,730,574 (GRCm39)	V824I	probably damaging	Het
Dnase2b	C	T	3: 146,288,096 (GRCm39)	C333Y	probably damaging	Het
Dop1a	T	A	9: 86,406,355 (GRCm39)	F365I	possibly damaging	Het
Dysf	A	T	6: 84,163,374 (GRCm39)	I1570F	probably benign	Het
Eml1	T	A	12: 108,475,493 (GRCm39)	C275S	probably damaging	Het
Fam135b	A	C	15: 71,334,102 (GRCm39)	S1031A	possibly damaging	Het
Gga2	T	C	7: 121,588,939 (GRCm39)	D596G	probably damaging	Het
Gin1	A	C	1: 97,720,100 (GRCm39)	Y365S	possibly damaging	Het
Gipr	T	A	7: 18,896,809 (GRCm39)	I154F	probably damaging	Het
Gm5478	A	T	15: 101,553,632 (GRCm39)	I284N	possibly damaging	Het
Gnat1	A	T	9: 107,553,827 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,650,569 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,088,044 (GRCm39)	I1554N		Het
Mycbp2	T	A	14: 103,412,417 (GRCm39)	T2519S	probably benign	Het
Mylk	G	A	16: 34,797,352 (GRCm39)	V1604M	possibly damaging	Het
Mypop	C	T	7: 18,725,922 (GRCm39)		probably benign	Het
Nol6	A	T	4: 41,118,479 (GRCm39)	V774E	probably benign	Het
Nol8	T	C	13: 49,814,678 (GRCm39)	V262A	probably benign	Het
Npepps	A	T	11: 97,113,965 (GRCm39)	V637D	probably damaging	Het
Or1e16	T	C	11: 73,286,544 (GRCm39)	I101M	probably benign	Het
Or4f52	A	G	2: 111,061,784 (GRCm39)	M118T	probably damaging	Het
Pcdhgb8	A	T	18: 37,896,201 (GRCm39)	I424F	possibly damaging	Het
Phf7	A	C	14: 30,961,183 (GRCm39)	W231G	probably damaging	Het
Plagl1	A	G	10: 13,003,977 (GRCm39)		probably benign	Het
Plat	A	T	8: 23,262,327 (GRCm39)	D117V	probably benign	Het
Prkag2	T	C	5: 25,152,564 (GRCm39)	Y180C	probably damaging	Het
Prpf8	T	C	11: 75,395,654 (GRCm39)	I1927T	possibly damaging	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Rad17	T	A	13: 100,764,133 (GRCm39)	D446V	possibly damaging	Het
Ralgapa2	G	T	2: 146,353,777 (GRCm39)	Q15K	probably damaging	Het
Ret	A	G	6: 118,140,247 (GRCm39)	Y982H	probably damaging	Het
Rnf145	T	A	11: 44,452,583 (GRCm39)	S521T	probably damaging	Het
Samd4	G	A	14: 47,326,620 (GRCm39)		silent	Het
Sardh	T	C	2: 27,120,854 (GRCm39)	D390G	probably damaging	Het
Saxo1	T	C	4: 86,363,359 (GRCm39)	T375A	probably damaging	Het
Scly	A	G	1: 91,236,125 (GRCm39)	T126A	probably damaging	Het
Slc6a16	T	A	7: 44,910,251 (GRCm39)	V307D	probably damaging	Het
Sned1	T	C	1: 93,189,852 (GRCm39)	C320R	probably damaging	Het
Sspo	G	A	6: 48,426,147 (GRCm39)		probably null	Het
Sycp2l	C	T	13: 41,310,973 (GRCm39)	T645I	unknown	Het
Tpmt	T	C	13: 47,193,584 (GRCm39)	K72E	probably damaging	Het
Tsbp1	C	T	17: 34,679,305 (GRCm39)		probably benign	Het
Ube2q2l	G	A	6: 136,378,347 (GRCm39)	T161M	possibly damaging	Het
Vmn1r51	A	T	6: 90,106,207 (GRCm39)	H41L	probably benign	Het
Wdfy3	A	T	5: 102,003,415 (GRCm39)	I2900N	probably damaging	Het
Zfp663	A	G	2: 165,195,023 (GRCm39)	S399P	probably benign	Het
Zfp692	T	C	11: 58,200,268 (GRCm39)		probably null	Het

Other mutations in Or5p52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Or5p52	APN	7	107,502,311 (GRCm39)	missense	probably damaging	1.00
IGL02002:Or5p52	APN	7	107,502,497 (GRCm39)	missense	possibly damaging	0.81
IGL02320:Or5p52	APN	7	107,502,038 (GRCm39)	missense	possibly damaging	0.78
IGL02701:Or5p52	APN	7	107,502,649 (GRCm39)	missense	probably benign	0.42
IGL03022:Or5p52	APN	7	107,502,188 (GRCm39)	missense	probably benign	0.18
IGL03214:Or5p52	APN	7	107,502,173 (GRCm39)	missense	probably benign	0.00
IGL03257:Or5p52	APN	7	107,501,963 (GRCm39)	missense	probably benign	0.01
IGL03372:Or5p52	APN	7	107,502,577 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Or5p52	UTSW	7	107,502,833 (GRCm39)	missense	probably benign	0.24
R0081:Or5p52	UTSW	7	107,502,212 (GRCm39)	missense	probably benign	0.00
R0669:Or5p52	UTSW	7	107,502,446 (GRCm39)	missense	probably damaging	1.00
R0932:Or5p52	UTSW	7	107,502,397 (GRCm39)	missense	possibly damaging	0.94
R1158:Or5p52	UTSW	7	107,502,130 (GRCm39)	missense	possibly damaging	0.75
R1746:Or5p52	UTSW	7	107,502,093 (GRCm39)	missense	probably benign	0.01
R3777:Or5p52	UTSW	7	107,501,954 (GRCm39)	missense	probably benign
R3778:Or5p52	UTSW	7	107,501,954 (GRCm39)	missense	probably benign
R4605:Or5p52	UTSW	7	107,502,445 (GRCm39)	missense	probably benign	0.24
R4661:Or5p52	UTSW	7	107,502,188 (GRCm39)	missense	probably benign	0.18
R4675:Or5p52	UTSW	7	107,502,567 (GRCm39)	missense	probably damaging	1.00
R5374:Or5p52	UTSW	7	107,502,698 (GRCm39)	missense	possibly damaging	0.52
R5686:Or5p52	UTSW	7	107,502,119 (GRCm39)	missense	probably damaging	0.99
R6030:Or5p52	UTSW	7	107,502,620 (GRCm39)	missense	probably benign	0.06
R6030:Or5p52	UTSW	7	107,502,620 (GRCm39)	missense	probably benign	0.06
R6164:Or5p52	UTSW	7	107,502,595 (GRCm39)	missense	probably benign	0.01
R6347:Or5p52	UTSW	7	107,502,157 (GRCm39)	missense	possibly damaging	0.68
R6995:Or5p52	UTSW	7	107,502,829 (GRCm39)	missense	probably benign	0.13
R7818:Or5p52	UTSW	7	107,502,230 (GRCm39)	missense	probably benign	0.01
R7890:Or5p52	UTSW	7	107,502,250 (GRCm39)	missense	probably benign	0.01
R8189:Or5p52	UTSW	7	107,501,939 (GRCm39)	missense	probably damaging	0.99
R8301:Or5p52	UTSW	7	107,502,833 (GRCm39)	missense	probably benign	0.24
R8965:Or5p52	UTSW	7	107,502,314 (GRCm39)	missense	probably damaging	1.00
R9269:Or5p52	UTSW	7	107,502,527 (GRCm39)	missense	possibly damaging	0.94
R9478:Or5p52	UTSW	7	107,502,238 (GRCm39)	missense	probably damaging	0.99
R9566:Or5p52	UTSW	7	107,502,409 (GRCm39)	missense	possibly damaging	0.52
Z1176:Or5p52	UTSW	7	107,502,265 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGTGGCAGAGCTAATCATC -3'
(R):5'- AGACTCTAGAGGACATGAGTGTTG -3'

Sequencing Primer
(F):5'- TCATCTTGGGACTAACAGAGGATCC -3'
(R):5'- CTCTAGAGGACATGAGTGTTGAATAG -3'

Posted On

2019-05-13