Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:Npr1'

22003

Institutional Source

Beutler Lab

Gene Symbol

Npr1

Ensembl Gene

ENSMUSG00000027931

Gene Name

natriuretic peptide receptor 1

Synonyms

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

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

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

Stock #

R0137 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

90357898-90373173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90363244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 879 (V879M)

Ref Sequence

ENSEMBL: ENSMUSP00000029540 (fasta)

Gene Model

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

AlphaFold

P18293

Predicted Effect

probably damaging
Transcript: ENSMUST00000029540
AA Change: V879M

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

SMART Domains

Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: V879M

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: ENSMUST00000134250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152510

Meta Mutation Damage Score

0.7835

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	T	8: 120,878,115 (GRCm39)	H190L	possibly damaging	Het
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,432,259 (GRCm39)	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,582,388 (GRCm39)		probably null	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,058,324 (GRCm39)	S209A	probably benign	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,390,391 (GRCm39)	I721F	probably benign	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rccd1	A	G	7: 79,970,326 (GRCm39)	V97A	possibly damaging	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,127,719 (GRCm39)	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,037,083 (GRCm39)	L227*	probably null	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	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
IGL01432:Npr1	APN	3	90,370,543 (GRCm39)	missense	possibly damaging	0.85
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTGTACAGATCATTGAGCAGGG -3'
(R):5'- TACGCCAACAACCTGGAGGAACTG -3'

Sequencing Primer
(F):5'- TCATTGAGCAGGGTGACCAC -3'
(R):5'- acacacacacacacacacac -3'

Posted On

2013-04-12