Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02449:Gpr180'

294087

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpr180

Ensembl Gene

ENSMUSG00000022131

Gene Name

G protein-coupled receptor 180

Synonyms

ITR, E130016I23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02449

Quality Score

Status

Chromosome

Chromosomal Location

118374570-118400673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118397532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 342 (L342P)

Ref Sequence

ENSEMBL: ENSMUSP00000022728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022728]

AlphaFold

Q8BPS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022728
AA Change: L342P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022728
Gene: ENSMUSG00000022131
AA Change: L342P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Lung_7-TM_R	132	418	2.1e-12	PFAM
Pfam:GpcrRhopsn4	142	406	6.1e-88	PFAM
low complexity region	419	433	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are resistant to cuff-induced intimal thickening of the femoral artery. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,440,908 (GRCm39)		probably null	Het
Akap6	A	G	12: 53,186,971 (GRCm39)	T1462A	probably damaging	Het
Arl6ip6	T	C	2: 53,082,538 (GRCm39)		probably benign	Het
Ascc3	A	T	10: 50,576,695 (GRCm39)	Q883H	probably benign	Het
Atp11a	T	A	8: 12,807,358 (GRCm39)		probably null	Het
Cds1	G	A	5: 101,963,794 (GRCm39)	G371D	probably damaging	Het
Col12a1	A	G	9: 79,548,751 (GRCm39)	L2198P	probably damaging	Het
Cyp2d22	C	T	15: 82,257,442 (GRCm39)	G241D	probably benign	Het
Dapk1	T	C	13: 60,867,584 (GRCm39)		probably benign	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,894,234 (GRCm39)	V186A	probably benign	Het
Gm9637	T	A	14: 19,402,436 (GRCm38)		noncoding transcript	Het
Heg1	T	C	16: 33,559,095 (GRCm39)		probably null	Het
Kcnab2	C	A	4: 152,496,441 (GRCm39)		probably null	Het
Lax1	A	G	1: 133,607,874 (GRCm39)	V289A	probably damaging	Het
Ly6k	T	G	15: 74,668,934 (GRCm39)	D115A	probably benign	Het
Mcc	A	C	18: 44,593,025 (GRCm39)	I670S	probably benign	Het
Mpdz	C	A	4: 81,247,659 (GRCm39)		probably null	Het
Mrgprb8	T	A	7: 48,038,431 (GRCm39)	L34*	probably null	Het
Mtor	T	A	4: 148,618,378 (GRCm39)	H1730Q	possibly damaging	Het
Muc4	C	T	16: 32,576,503 (GRCm39)		probably benign	Het
Myh8	T	C	11: 67,185,440 (GRCm39)		probably null	Het
Naip5	A	T	13: 100,358,683 (GRCm39)	V851E	probably benign	Het
Neb	T	C	2: 52,091,918 (GRCm39)	I1277V	probably benign	Het
Nlrp9a	T	C	7: 26,264,396 (GRCm39)	M683T	probably benign	Het
Npr2	A	G	4: 43,646,641 (GRCm39)	Y663C	probably damaging	Het
Padi3	C	T	4: 140,517,023 (GRCm39)		probably null	Het
Pclo	A	G	5: 14,565,357 (GRCm39)	D41G	probably damaging	Het
Pds5a	A	T	5: 65,776,353 (GRCm39)	N80K	probably damaging	Het
Plec	C	T	15: 76,070,963 (GRCm39)	D812N	possibly damaging	Het
Psg20	A	T	7: 18,418,333 (GRCm39)		probably benign	Het
Ptch2	C	A	4: 116,965,380 (GRCm39)	L322I	possibly damaging	Het
Ptprv	T	C	1: 135,039,074 (GRCm39)		noncoding transcript	Het
Scn2b	A	G	9: 45,036,812 (GRCm39)	K107E	probably damaging	Het
Slc24a4	A	C	12: 102,193,341 (GRCm39)	I226L	probably benign	Het
Spink4	A	G	4: 40,929,190 (GRCm39)	M72V	probably benign	Het
Supt16	A	T	14: 52,411,263 (GRCm39)	M676K	possibly damaging	Het
Svep1	A	C	4: 58,070,296 (GRCm39)	C2497G	possibly damaging	Het
Tenm2	T	A	11: 35,914,449 (GRCm39)	T2362S	probably damaging	Het
Tgm3	G	T	2: 129,880,529 (GRCm39)		probably null	Het
Trpa1	T	A	1: 14,968,381 (GRCm39)	T462S	probably damaging	Het
Ucp2	G	A	7: 100,148,017 (GRCm39)	V237M	probably damaging	Het
Vmn2r53	C	A	7: 12,316,288 (GRCm39)	L510F	probably damaging	Het
Zan	G	A	5: 137,387,589 (GRCm39)	T4874M	unknown	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp974	T	A	7: 27,611,152 (GRCm39)	Y191F	probably benign	Het

Other mutations in Gpr180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Gpr180	APN	14	118,397,588 (GRCm39)	missense	probably damaging	1.00
IGL02740:Gpr180	APN	14	118,377,161 (GRCm39)	missense	probably damaging	1.00
IGL03103:Gpr180	APN	14	118,377,175 (GRCm39)	missense	possibly damaging	0.95
R0321:Gpr180	UTSW	14	118,385,699 (GRCm39)	critical splice donor site	probably null
R0545:Gpr180	UTSW	14	118,397,458 (GRCm39)	missense	possibly damaging	0.77
R0688:Gpr180	UTSW	14	118,385,596 (GRCm39)	missense	probably benign	0.00
R0844:Gpr180	UTSW	14	118,395,359 (GRCm39)	missense	probably damaging	1.00
R2566:Gpr180	UTSW	14	118,377,185 (GRCm39)	missense	probably benign	0.06
R5334:Gpr180	UTSW	14	118,397,468 (GRCm39)	missense	probably damaging	0.99
R5378:Gpr180	UTSW	14	118,377,251 (GRCm39)	missense	probably benign
R5583:Gpr180	UTSW	14	118,400,110 (GRCm39)	missense	probably damaging	1.00
R6081:Gpr180	UTSW	14	118,391,086 (GRCm39)	missense	probably benign	0.02
R6851:Gpr180	UTSW	14	118,391,037 (GRCm39)	missense	probably damaging	1.00
R7382:Gpr180	UTSW	14	118,400,035 (GRCm39)	missense	possibly damaging	0.63
R7798:Gpr180	UTSW	14	118,391,098 (GRCm39)	missense	probably damaging	1.00
R8159:Gpr180	UTSW	14	118,391,302 (GRCm39)	missense	probably damaging	1.00
R8950:Gpr180	UTSW	14	118,395,452 (GRCm39)	missense	probably benign	0.24
R9068:Gpr180	UTSW	14	118,385,658 (GRCm39)	nonsense	probably null
R9231:Gpr180	UTSW	14	118,395,455 (GRCm39)	missense	probably damaging	1.00
R9696:Gpr180	UTSW	14	118,391,302 (GRCm39)	missense	probably damaging	1.00
R9697:Gpr180	UTSW	14	118,391,302 (GRCm39)	missense	probably damaging	1.00
R9698:Gpr180	UTSW	14	118,391,302 (GRCm39)	missense	probably damaging	1.00
R9701:Gpr180	UTSW	14	118,391,302 (GRCm39)	missense	probably damaging	1.00
Z1177:Gpr180	UTSW	14	118,385,613 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16