Mutagenetix > Incidental Mutation

Incidental Mutation 'R9680:Npr1'

728464

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R9680 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90357898-90373173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90368448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 474 (V474A)

Ref Sequence

ENSEMBL: ENSMUSP00000029540 (fasta)

Gene Model

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

AlphaFold

P18293

Predicted Effect

probably benign
Transcript: ENSMUST00000029540
AA Change: V474A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029540
Gene: ENSMUSG00000027931
AA Change: V474A

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

SMART Domains

Protein: ENSMUSP00000118023
Gene: ENSMUSG00000027931
AA Change: V30A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,208,239 (GRCm39)	Y502N	probably damaging	Het
Adam6a	T	A	12: 113,509,484 (GRCm39)	L619*	probably null	Het
Akap9	A	T	5: 4,011,587 (GRCm39)	R763S	probably benign	Het
Akt3	G	A	1: 176,958,639 (GRCm39)	P24S	probably damaging	Het
Ano2	A	T	6: 125,857,382 (GRCm39)		probably null	Het
B4galnt4	G	A	7: 140,647,957 (GRCm39)	R491Q	possibly damaging	Het
Bahcc1	A	G	11: 120,163,286 (GRCm39)	D528G	possibly damaging	Het
Camk1g	G	T	1: 193,030,483 (GRCm39)	Q409K	probably benign	Het
Cdh3	T	A	8: 107,274,396 (GRCm39)	N638K	probably benign	Het
Cgnl1	T	A	9: 71,562,632 (GRCm39)	E882D	possibly damaging	Het
Cplane1	A	G	15: 8,231,785 (GRCm39)	N1077S	possibly damaging	Het
Cpxm2	C	T	7: 131,661,651 (GRCm39)	E379K	probably damaging	Het
Cyp3a16	A	G	5: 145,389,690 (GRCm39)	L225P	probably damaging	Het
Dchs1	T	C	7: 105,411,625 (GRCm39)	E1497G	probably damaging	Het
Denr	T	A	5: 124,065,117 (GRCm39)	S157T	possibly damaging	Het
Disp3	A	G	4: 148,356,101 (GRCm39)	I253T	probably damaging	Het
Dlgap2	C	T	8: 14,896,653 (GRCm39)	T1043M	probably damaging	Het
Epb41l5	T	C	1: 119,535,804 (GRCm39)	T355A	probably damaging	Het
Etv6	G	A	6: 134,013,062 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,310,484 (GRCm39)	I141V	probably benign	Het
Fsip2	T	G	2: 82,819,272 (GRCm39)	S5002A	probably benign	Het
Gbf1	T	G	19: 46,271,837 (GRCm39)	V1576G	probably damaging	Het
Gmfg	T	A	7: 28,140,733 (GRCm39)		probably null	Het
Gsdmc4	T	C	15: 63,774,706 (GRCm39)	E25G	possibly damaging	Het
Igkv6-23	A	T	6: 70,237,884 (GRCm39)	L12M	possibly damaging	Het
Kank1	G	A	19: 25,388,138 (GRCm39)	V604M	probably damaging	Het
Kctd1	A	G	18: 15,140,822 (GRCm39)	V40A	probably damaging	Het
Krt222	T	C	11: 99,127,065 (GRCm39)	K185R	possibly damaging	Het
Ldc1	A	G	4: 130,115,527 (GRCm39)	V7A	probably benign	Het
Lipm	T	C	19: 34,089,494 (GRCm39)	F151L	probably damaging	Het
Lrrc2	A	T	9: 110,791,710 (GRCm39)	N154I	probably damaging	Het
Map1a	T	A	2: 121,132,865 (GRCm39)	M1227K	probably damaging	Het
Med1	T	C	11: 98,071,114 (GRCm39)	T78A	probably damaging	Het
Mrm1	A	G	11: 84,710,144 (GRCm39)	S19P	possibly damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,330,657 (GRCm39)	Y354C	probably damaging	Het
Nyap1	A	T	5: 137,733,840 (GRCm39)	S398T	probably damaging	Het
Obox7	C	T	7: 14,398,067 (GRCm39)	Q36*	probably null	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or6c8	A	T	10: 128,915,358 (GRCm39)	I158N	probably benign	Het
P3h1	T	A	4: 119,090,428 (GRCm39)	L92H	probably benign	Het
Pappa2	T	C	1: 158,609,818 (GRCm39)	T1548A	possibly damaging	Het
Pnisr	A	G	4: 21,873,586 (GRCm39)	E443G	probably damaging	Het
Prdm2	A	G	4: 142,859,079 (GRCm39)	S1404P	possibly damaging	Het
Prom1	A	T	5: 44,190,284 (GRCm39)		probably null	Het
Rbm27	A	T	18: 42,455,186 (GRCm39)	Q646H	probably damaging	Het
Scamp3	C	T	3: 89,087,561 (GRCm39)	R134*	probably null	Het
Scrt2	T	C	2: 151,924,018 (GRCm39)	C17R	probably benign	Het
Setbp1	A	G	18: 78,902,498 (GRCm39)	S390P	probably benign	Het
Shank2	A	T	7: 143,964,837 (GRCm39)	D815V	probably damaging	Het
Sirt7	G	A	11: 120,511,296 (GRCm39)	T285M		Het
Sis	T	G	3: 72,863,621 (GRCm39)	S206R	probably benign	Het
Slc24a4	T	G	12: 102,193,334 (GRCm39)	D206E	possibly damaging	Het
Slc26a4	C	A	12: 31,585,292 (GRCm39)	G501C	probably damaging	Het
Sptb	T	C	12: 76,677,489 (GRCm39)	N115S	probably damaging	Het
Srprb	T	C	9: 103,074,807 (GRCm39)	T112A	possibly damaging	Het
Tbk1	G	T	10: 121,389,841 (GRCm39)	A537E	probably benign	Het
Tbx19	T	A	1: 164,970,067 (GRCm39)	H274L	probably damaging	Het
Tmem130	A	G	5: 144,674,233 (GRCm39)	S394P	probably damaging	Het
Tmem40	A	G	6: 115,718,517 (GRCm39)	S104P	possibly damaging	Het
Tmprss2	T	A	16: 97,379,826 (GRCm39)	Q158L	probably damaging	Het
Tnip1	A	T	11: 54,828,876 (GRCm39)	V97D	possibly damaging	Het
Tpr	T	A	1: 150,314,887 (GRCm39)	S1985T	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,744,158 (GRCm39)	N2591K	possibly damaging	Het
Ushbp1	A	T	8: 71,838,573 (GRCm39)	C618S	possibly damaging	Het
Usp34	A	G	11: 23,317,385 (GRCm39)	S834G	possibly damaging	Het
Vmn2r103	C	A	17: 20,019,525 (GRCm39)	C536*	probably null	Het
Vmn2r124	T	A	17: 18,293,758 (GRCm39)	V615D	probably damaging	Het
Zbtb38	G	A	9: 96,570,397 (GRCm39)	T229I	probably benign	Het
Zfhx4	T	A	3: 5,465,656 (GRCm39)	V1963E	probably damaging	Het
Zfp142	G	A	1: 74,610,933 (GRCm39)	T954M	probably benign	Het
Zgrf1	A	G	3: 127,409,216 (GRCm39)	Y1730C	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
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

Predicted Primers

PCR Primer
(F):5'- TCCAATCTGGAGCTTCTGCC -3'
(R):5'- AAGGTGACAGGCCCATGATTC -3'

Sequencing Primer
(F):5'- GAGCTTCTGCCTCCTCACGG -3'
(R):5'- CCATGATTCCAGAATCCTATGTGG -3'

Posted On

2022-10-06