Mutagenetix > Incidental Mutation

Incidental Mutation 'R8926:Or5p57'

679544

Institutional Source

Beutler Lab

Gene Symbol

Or5p57

Ensembl Gene

ENSMUSG00000063120

Gene Name

olfactory receptor family 5 subfamily P member 57

Synonyms

MOR204-32, GA_x6K02T2PBJ9-10395807-10394869, Olfr480

MMRRC Submission

068770-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R8926 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107664975-107666002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107665513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 134 (T134I)

Ref Sequence

ENSEMBL: ENSMUSP00000149301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071658] [ENSMUST00000217653]

AlphaFold

Q8VEZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000071658
AA Change: T164I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071583
Gene: ENSMUSG00000063120
AA Change: T164I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	61	338	1.7e-50	PFAM
Pfam:7tm_1	71	320	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217653
AA Change: T134I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (69/69)

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
Adgrf3	T	A	5: 30,405,446 (GRCm39)	D296V	possibly damaging	Het
Ahi1	T	C	10: 20,930,982 (GRCm39)	Y941H	probably damaging	Het
Bscl2	T	C	19: 8,825,348 (GRCm39)		probably null	Het
C1s1	C	T	6: 124,510,325 (GRCm39)	G374D	probably damaging	Het
C1s1	T	C	6: 124,513,322 (GRCm39)	D235G	possibly damaging	Het
Cacna1e	C	T	1: 154,577,080 (GRCm39)	V106I	possibly damaging	Het
Ccdc97	G	A	7: 25,412,494 (GRCm39)	A316V	probably benign	Het
Ces1a	A	G	8: 93,751,841 (GRCm39)	V431A	probably benign	Het
Cftr	C	T	6: 18,268,003 (GRCm39)	S684L	possibly damaging	Het
Cgnl1	T	A	9: 71,632,535 (GRCm39)	N272I	probably benign	Het
Csf2rb	C	T	15: 78,224,749 (GRCm39)	S169L	probably benign	Het
Cux1	T	A	5: 136,338,404 (GRCm39)		probably benign	Het
Cyp11b1	T	A	15: 74,711,087 (GRCm39)	Y197F	probably benign	Het
Cyp1a2	T	C	9: 57,588,361 (GRCm39)	K288E	probably benign	Het
Dapk1	T	A	13: 60,908,734 (GRCm39)	W1116R	probably damaging	Het
Dclre1c	A	T	2: 3,434,827 (GRCm39)	D97V	probably damaging	Het
Efcc1	A	G	6: 87,726,169 (GRCm39)	R323G	probably benign	Het
Epha6	T	A	16: 59,659,662 (GRCm39)	I819F	probably benign	Het
Fam118b	A	T	9: 35,146,732 (GRCm39)	L45Q	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,869 (GRCm39)	C1611Y	probably damaging	Het
Fsd1l	T	G	4: 53,686,493 (GRCm39)	I302S	probably benign	Het
Fsip2	T	A	2: 82,823,927 (GRCm39)	D6553E	possibly damaging	Het
Gje1	C	T	10: 14,592,435 (GRCm39)	V116I	probably benign	Het
H2-T9	T	A	17: 36,420,626 (GRCm39)		probably null	Het
Helz	C	A	11: 107,563,509 (GRCm39)	H1650N	unknown	Het
Hltf	T	G	3: 20,123,323 (GRCm39)		probably null	Het
Intu	T	A	3: 40,608,139 (GRCm39)	D50E	possibly damaging	Het
Ipo9	C	T	1: 135,313,952 (GRCm39)		probably benign	Het
Lama5	G	A	2: 179,835,783 (GRCm39)	T1217I	probably benign	Het
Lct	T	A	1: 128,228,148 (GRCm39)	Y1115F	probably damaging	Het
Lpgat1	T	C	1: 191,492,120 (GRCm39)	L202P	probably damaging	Het
Lrp1	C	T	10: 127,381,671 (GRCm39)	R3801H	probably benign	Het
Mtfmt	T	A	9: 65,344,414 (GRCm39)	Y113*	probably null	Het
Myh7	A	G	14: 55,222,533 (GRCm39)	F801L	probably benign	Het
Myl4	G	T	11: 104,476,572 (GRCm39)	M191I	probably benign	Het
Myo3a	C	A	2: 22,401,074 (GRCm39)	N614K	possibly damaging	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nol10	C	A	12: 17,466,871 (GRCm39)	Q584K	probably benign	Het
Nup210	C	A	6: 91,030,434 (GRCm39)	G919C	probably damaging	Het
Or13a20	G	A	7: 140,232,113 (GRCm39)	V74M	probably benign	Het
Pdcd6ip	T	A	9: 113,514,493 (GRCm39)	Q244L	probably benign	Het
Pde4d	T	C	13: 110,074,625 (GRCm39)	V410A	probably benign	Het
Plekha7	A	T	7: 115,756,223 (GRCm39)		probably benign	Het
Plpp4	A	T	7: 128,923,211 (GRCm39)		probably null	Het
Poln	T	C	5: 34,286,769 (GRCm39)	N133S	probably benign	Het
Ppfibp1	A	G	6: 146,920,986 (GRCm39)	N575D	probably damaging	Het
Prex2	T	A	1: 11,159,930 (GRCm39)		probably null	Het
Prkar2b	A	G	12: 32,111,080 (GRCm39)	M1T	probably null	Het
Ptcd3	A	G	6: 71,869,464 (GRCm39)	F378S	probably damaging	Het
Rab27b	C	A	18: 70,129,144 (GRCm39)	R50L	probably damaging	Het
Rpl7a	T	G	2: 26,801,557 (GRCm39)	F83C	probably damaging	Het
Slc8a2	A	G	7: 15,868,194 (GRCm39)	E142G	probably damaging	Het
Slc9a4	A	T	1: 40,619,928 (GRCm39)	I85L	possibly damaging	Het
Sorcs1	C	A	19: 50,241,096 (GRCm39)	W430L	possibly damaging	Het
Spaca6	T	A	17: 18,058,790 (GRCm39)		probably null	Het
Synrg	C	A	11: 83,881,567 (GRCm39)	A301E	possibly damaging	Het
Tcl1	G	A	12: 105,184,969 (GRCm39)		probably benign	Het
Tecpr1	C	T	5: 144,153,780 (GRCm39)	V158M	probably damaging	Het
Tex2	T	G	11: 106,459,230 (GRCm39)	T67P		Het
Tlr9	A	T	9: 106,103,213 (GRCm39)	I835L	probably benign	Het
Tmem185b	G	C	1: 119,454,406 (GRCm39)	V56L	probably benign	Het
Tssk2	C	T	16: 17,717,562 (GRCm39)	R322W	probably benign	Het
Ttn	T	A	2: 76,571,735 (GRCm39)	Y26386F	probably benign	Het
Txndc16	C	A	14: 45,406,771 (GRCm39)	R228I	possibly damaging	Het
Uspl1	T	G	5: 149,138,701 (GRCm39)		probably null	Het
Vmn1r113	A	T	7: 20,521,874 (GRCm39)	H222L	possibly damaging	Het
Vnn1	T	G	10: 23,776,587 (GRCm39)	S313A	probably benign	Het
Zc3hc1	A	T	6: 30,374,887 (GRCm39)	L218Q	possibly damaging	Het
Znrf1	T	G	8: 112,264,143 (GRCm39)	L124R	probably damaging	Het
Zzz3	A	T	3: 152,133,529 (GRCm39)	N196Y	possibly damaging	Het

Other mutations in Or5p57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Or5p57	APN	7	107,665,495 (GRCm39)	missense	probably benign	0.32
IGL02060:Or5p57	APN	7	107,665,878 (GRCm39)	missense	probably benign	0.03
IGL02392:Or5p57	APN	7	107,665,710 (GRCm39)	missense	probably benign	0.10
IGL02493:Or5p57	APN	7	107,665,012 (GRCm39)	missense	possibly damaging	0.79
IGL02634:Or5p57	APN	7	107,665,978 (GRCm39)	missense	probably benign	0.00
F5770:Or5p57	UTSW	7	107,665,885 (GRCm39)	missense	probably benign	0.11
R0446:Or5p57	UTSW	7	107,665,932 (GRCm39)	nonsense	probably null
R1070:Or5p57	UTSW	7	107,665,858 (GRCm39)	missense	probably benign	0.00
R1510:Or5p57	UTSW	7	107,665,735 (GRCm39)	missense	probably damaging	1.00
R1862:Or5p57	UTSW	7	107,665,932 (GRCm39)	nonsense	probably null
R1863:Or5p57	UTSW	7	107,665,932 (GRCm39)	nonsense	probably null
R1885:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R1886:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R1887:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R3609:Or5p57	UTSW	7	107,665,576 (GRCm39)	missense	probably damaging	1.00
R3921:Or5p57	UTSW	7	107,665,108 (GRCm39)	missense	possibly damaging	0.94
R4259:Or5p57	UTSW	7	107,665,100 (GRCm39)	nonsense	probably null
R5276:Or5p57	UTSW	7	107,665,423 (GRCm39)	nonsense	probably null
R6224:Or5p57	UTSW	7	107,665,949 (GRCm39)	missense	probably benign	0.00
R8059:Or5p57	UTSW	7	107,665,223 (GRCm39)	missense	probably benign	0.01
R8229:Or5p57	UTSW	7	107,665,794 (GRCm39)	missense	probably benign	0.01
R8271:Or5p57	UTSW	7	107,664,980 (GRCm39)	missense	probably damaging	0.99
R9176:Or5p57	UTSW	7	107,665,246 (GRCm39)	missense	probably benign	0.05
V7581:Or5p57	UTSW	7	107,665,885 (GRCm39)	missense	probably benign	0.11
X0021:Or5p57	UTSW	7	107,665,795 (GRCm39)	missense	probably benign	0.01
X0066:Or5p57	UTSW	7	107,665,642 (GRCm39)	missense	probably benign	0.00
Z1088:Or5p57	UTSW	7	107,665,534 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGACCACAATGATGGATCCCG -3'
(R):5'- GTTACACCCATCATGCTGAGG -3'

Sequencing Primer
(F):5'- CCGAAGAGATTGCTGGAATGACTTC -3'
(R):5'- CCATCATGCTGAGGGGCTTTC -3'

Posted On

2021-08-02