Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01432:Npr1'

84176

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npr1

Ensembl Gene

ENSMUSG00000027931

Gene Name

natriuretic peptide receptor 1

Synonyms

guanylyl cyclase-A, NPRA, NPR-A, GC-A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

90357898-90373173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90370543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 308 (I308F)

Ref Sequence

ENSEMBL: ENSMUSP00000029540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029540]

AlphaFold

P18293

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029540
AA Change: I308F

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: I308F

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:ANF_receptor	50	410	4.7e-54	PFAM
low complexity region	468	488	N/A	INTRINSIC
Pfam:Pkinase_Tyr	538	797	1.2e-39	PFAM
Pfam:Pkinase	543	796	8.7e-31	PFAM
CYCc	836	1030	5.04e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124760

SMART Domains

Protein: ENSMUSP00000118023
Gene: ENSMUSG00000027931

Domain	Start	End	E-Value	Type
PDB:3A3K\|B	2	20	1e-8	PDB
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146991

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]
PHENOTYPE: Homozygous inactivation of this gene can lead to hypertension, cardiac hypertrophy, lethal vascular events, congestive heart failure in response to volume overload, reduced serum testosterone levels, altered steroidogenesis, and reduced myocardial PMN infiltration and infarct size after I/R injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh9a1	T	C	1: 167,183,354 (GRCm39)	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,612,566 (GRCm39)	I164F	probably damaging	Het
Anapc1	C	A	2: 128,475,328 (GRCm39)	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,358,514 (GRCm39)	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,242,125 (GRCm39)	K892E	probably benign	Het
Bltp1	T	A	3: 37,057,908 (GRCm39)	V3166E	possibly damaging	Het
Bpnt1	G	A	1: 185,086,218 (GRCm39)	W261*	probably null	Het
Calu	A	G	6: 29,356,552 (GRCm39)	D26G	possibly damaging	Het
Ccdc113	C	T	8: 96,264,885 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,605,405 (GRCm39)	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,831,033 (GRCm39)	K290R	probably damaging	Het
Cep131	G	A	11: 119,967,835 (GRCm39)	A140V	possibly damaging	Het
Cfap251	A	G	5: 123,418,015 (GRCm39)	I81M	possibly damaging	Het
Chn1	A	T	2: 73,462,096 (GRCm39)	C236S	probably damaging	Het
Cntn4	T	A	6: 106,655,295 (GRCm39)		probably benign	Het
Crispld1	A	T	1: 17,817,025 (GRCm39)	Q194L	probably benign	Het
Csmd3	A	G	15: 47,596,895 (GRCm39)	V1981A	probably damaging	Het
Cttn	A	G	7: 144,015,043 (GRCm39)	I55T	probably damaging	Het
Ddx46	G	T	13: 55,785,835 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,030,557 (GRCm39)	I299N	unknown	Het
Dll1	A	G	17: 15,588,768 (GRCm39)	Y636H	probably damaging	Het
Eng	A	T	2: 32,559,544 (GRCm39)	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,578,324 (GRCm39)	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,547,043 (GRCm39)	T461S	probably benign	Het
Gbf1	T	C	19: 46,268,434 (GRCm39)	Y1269H	probably damaging	Het
Gm5852	A	G	3: 93,635,086 (GRCm39)	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,330,052 (GRCm39)	G323R	probably damaging	Het
Gpr155	T	A	2: 73,182,229 (GRCm39)	E661D	possibly damaging	Het
Grik4	A	T	9: 42,432,472 (GRCm39)	C842S	probably damaging	Het
Iws1	A	G	18: 32,216,519 (GRCm39)		probably benign	Het
Kif5c	A	G	2: 49,591,089 (GRCm39)	T314A	probably damaging	Het
Klhdc1	A	C	12: 69,298,751 (GRCm39)	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,720,393 (GRCm39)	T3865A	unknown	Het
Lgr5	T	C	10: 115,288,997 (GRCm39)	K477R	probably damaging	Het
Ly75	A	T	2: 60,206,351 (GRCm39)	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,675,655 (GRCm39)	M26K	probably damaging	Het
Mettl2	T	C	11: 105,017,348 (GRCm39)	V9A	probably benign	Het
Mgat5b	A	G	11: 116,864,202 (GRCm39)	D456G	probably benign	Het
Mstn	A	G	1: 53,105,689 (GRCm39)	T344A	possibly damaging	Het
Oasl1	G	A	5: 115,075,466 (GRCm39)	V509M	probably benign	Het
Obscn	T	C	11: 58,924,583 (GRCm39)	M5727V	probably benign	Het
Or2d4	T	C	7: 106,543,748 (GRCm39)	I153M	possibly damaging	Het
Or4c114	T	A	2: 88,904,545 (GRCm39)	I297F	probably benign	Het
Or4k15c	T	A	14: 50,321,404 (GRCm39)	T245S	probably benign	Het
Or5an1c	A	G	19: 12,218,891 (GRCm39)	S45P	probably damaging	Het
Pcgf1	T	C	6: 83,055,398 (GRCm39)	I11T	possibly damaging	Het
Phactr3	T	C	2: 177,924,893 (GRCm39)	V276A	probably benign	Het
Pla2g6	A	T	15: 79,202,168 (GRCm39)	M1K	probably null	Het
Plec	T	C	15: 76,074,728 (GRCm39)	E413G	probably damaging	Het
Plxna2	G	T	1: 194,326,626 (GRCm39)	A187S	possibly damaging	Het
Polq	A	T	16: 36,892,184 (GRCm39)		probably benign	Het
Pramel51	T	C	12: 88,143,202 (GRCm39)	K139E	probably benign	Het
Prss39	A	G	1: 34,541,216 (GRCm39)	D240G	probably benign	Het
Ptpn12	A	T	5: 21,203,553 (GRCm39)	Y408*	probably null	Het
Ptprt	A	G	2: 162,109,999 (GRCm39)		probably benign	Het
Rnf6	A	T	5: 146,152,931 (GRCm39)	S95T	possibly damaging	Het
Ryr2	T	C	13: 11,866,090 (GRCm39)	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,113,491 (GRCm39)	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,182,012 (GRCm39)	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,738,285 (GRCm39)	T527A	probably damaging	Het
Smg9	T	C	7: 24,120,691 (GRCm39)		probably null	Het
Snx25	A	G	8: 46,558,197 (GRCm39)	L270P	probably damaging	Het
Ssh1	G	T	5: 114,096,883 (GRCm39)	T165N	probably benign	Het
Stk24	T	A	14: 121,540,218 (GRCm39)	E127V	probably damaging	Het
Suco	A	G	1: 161,661,689 (GRCm39)	V914A	probably damaging	Het
Tbcd	T	A	11: 121,366,506 (GRCm39)		probably benign	Het
Tbcel	A	T	9: 42,355,817 (GRCm39)	L114Q	possibly damaging	Het
Trpm1	A	G	7: 63,884,767 (GRCm39)	D816G	probably benign	Het
Uhrf1	G	A	17: 56,625,250 (GRCm39)	V566M	probably damaging	Het
Ulk4	T	A	9: 121,095,367 (GRCm39)	E95D	probably damaging	Het
Vmn1r40	T	C	6: 89,691,201 (GRCm39)	M6T	probably benign	Het
Vmn2r59	C	T	7: 41,661,983 (GRCm39)	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,239 (GRCm39)	H367N	probably benign	Het
Xpo6	A	G	7: 125,723,553 (GRCm39)	V585A	probably benign	Het

Other mutations in Npr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Npr1	APN	3	90,365,669 (GRCm39)	missense	probably damaging	1.00
IGL02106:Npr1	APN	3	90,372,165 (GRCm39)	missense	probably benign	0.12
IGL03310:Npr1	APN	3	90,363,298 (GRCm39)	missense	probably benign	0.30
PIT4581001:Npr1	UTSW	3	90,369,564 (GRCm39)	missense	probably damaging	1.00
R0010:Npr1	UTSW	3	90,362,139 (GRCm39)	missense	probably damaging	1.00
R0137:Npr1	UTSW	3	90,363,244 (GRCm39)	missense	probably damaging	1.00
R0384:Npr1	UTSW	3	90,372,474 (GRCm39)	missense	probably damaging	0.98
R0656:Npr1	UTSW	3	90,368,676 (GRCm39)	missense	probably benign
R0941:Npr1	UTSW	3	90,368,716 (GRCm39)	missense	probably benign
R0961:Npr1	UTSW	3	90,366,028 (GRCm39)	missense	possibly damaging	0.91
R1172:Npr1	UTSW	3	90,368,689 (GRCm39)	missense	probably benign	0.01
R1747:Npr1	UTSW	3	90,365,976 (GRCm39)	missense	possibly damaging	0.88
R1763:Npr1	UTSW	3	90,366,644 (GRCm39)	missense	probably damaging	0.98
R1900:Npr1	UTSW	3	90,369,495 (GRCm39)	missense	probably damaging	0.98
R3807:Npr1	UTSW	3	90,366,033 (GRCm39)	missense	probably damaging	0.98
R4017:Npr1	UTSW	3	90,363,539 (GRCm39)	missense	probably damaging	1.00
R4437:Npr1	UTSW	3	90,363,593 (GRCm39)	missense	probably damaging	1.00
R4900:Npr1	UTSW	3	90,363,272 (GRCm39)	missense	possibly damaging	0.77
R5265:Npr1	UTSW	3	90,364,309 (GRCm39)	missense	probably benign	0.29
R5343:Npr1	UTSW	3	90,365,515 (GRCm39)	missense	possibly damaging	0.94
R5590:Npr1	UTSW	3	90,362,149 (GRCm39)	missense	probably damaging	0.99
R5868:Npr1	UTSW	3	90,366,800 (GRCm39)	intron	probably benign
R6782:Npr1	UTSW	3	90,363,560 (GRCm39)	missense	probably benign	0.18
R6828:Npr1	UTSW	3	90,372,120 (GRCm39)	missense	probably benign
R6903:Npr1	UTSW	3	90,362,452 (GRCm39)	missense	possibly damaging	0.67
R7592:Npr1	UTSW	3	90,372,323 (GRCm39)	missense	possibly damaging	0.52
R7841:Npr1	UTSW	3	90,362,175 (GRCm39)	missense	probably damaging	1.00
R8202:Npr1	UTSW	3	90,368,731 (GRCm39)	missense	probably benign
R8671:Npr1	UTSW	3	90,363,464 (GRCm39)	unclassified	probably benign
R8683:Npr1	UTSW	3	90,362,497 (GRCm39)	missense	probably benign	0.38
R8819:Npr1	UTSW	3	90,372,201 (GRCm39)	missense	probably damaging	0.96
R8820:Npr1	UTSW	3	90,372,201 (GRCm39)	missense	probably damaging	0.96
R9330:Npr1	UTSW	3	90,365,979 (GRCm39)	missense	possibly damaging	0.85
R9680:Npr1	UTSW	3	90,368,448 (GRCm39)	missense	probably benign	0.01

Posted On

2013-11-11