Mutagenetix > Incidental Mutation

Incidental Mutation 'R1848:Npr2'

207858

Institutional Source

Beutler Lab

Gene Symbol

Npr2

Ensembl Gene

ENSMUSG00000028469

Gene Name

natriuretic peptide receptor 2

Synonyms

pwe, cn, guanylyl cyclase-B

MMRRC Submission

039873-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43631935-43651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43632384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 67 (V67G)

Ref Sequence

ENSEMBL: ENSMUSP00000103506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000107874]

AlphaFold

Q6VVW5

Predicted Effect

probably benign
Transcript: ENSMUST00000030191
AA Change: V67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: V67G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	44	399	1.9e-45	PFAM
Pfam:Pkinase_Tyr	518	786	4.7e-39	PFAM
Pfam:Pkinase	535	785	1.2e-32	PFAM
CYCc	825	1019	3.28e-111	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107874
AA Change: V67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: V67G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	44	399	5.7e-56	PFAM
Pfam:Pkinase_Tyr	518	786	4.1e-39	PFAM
Pfam:Pkinase	533	785	3.8e-34	PFAM
CYCc	825	989	4.37e-57	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174934

Meta Mutation Damage Score

0.1196

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in skeletal abnormalities, malocclusion, and reduced viability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 87,568,493	Y86*	probably null	Het
Aadac	A	G	3: 60,039,697	E272G	probably damaging	Het
Abcc8	A	T	7: 46,166,902	D271E	probably benign	Het
Acan	T	C	7: 79,099,035	F1185L	probably benign	Het
Adam1a	A	T	5: 121,519,620	C537S	probably damaging	Het
Ago2	A	G	15: 73,123,965	V395A	probably benign	Het
Alox15	A	G	11: 70,350,752	V101A	probably damaging	Het
Ankra2	T	C	13: 98,271,124	I194T	probably damaging	Het
Apobec4	C	A	1: 152,756,230	P3H	probably damaging	Het
Arid3b	G	T	9: 57,796,677	Y329*	probably null	Het
Atm	A	T	9: 53,468,012	S1993T	probably benign	Het
Bpgm	T	G	6: 34,487,734	S129A	probably benign	Het
Brat1	A	G	5: 140,718,509	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,342,570	S128T	probably benign	Het
Cd300lg	A	T	11: 102,046,206		probably benign	Het
Cdc34b	C	A	11: 94,742,477	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,401,310	V1767E	probably benign	Het
Cep350	T	C	1: 155,953,651	D169G	probably benign	Het
Col7a1	A	T	9: 108,969,565	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,630,434	L724P	probably damaging	Het
Crb1	T	A	1: 139,237,012	I1125F	probably damaging	Het
Ctif	T	A	18: 75,519,941	D415V	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dhrs2	A	G	14: 55,240,841	D237G	probably benign	Het
Dhx9	T	C	1: 153,465,753	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,219,713	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,906,615	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,066,107	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166	T3245S	probably benign	Het
Ect2l	A	G	10: 18,200,033	L35P	probably damaging	Het
Efcab5	A	T	11: 77,103,306	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,681,867	R697P	probably damaging	Het
Emsy	T	A	7: 98,600,821	E753V	probably damaging	Het
Entpd3	A	G	9: 120,558,419	I227M	probably damaging	Het
Epn1	T	A	7: 5,089,998	V103E	probably damaging	Het
Esrra	T	C	19: 6,912,010	D337G	probably benign	Het
Fam129c	T	C	8: 71,603,769	M371T	possibly damaging	Het
Fam83e	A	T	7: 45,728,769	K406*	probably null	Het
Fam83e	A	T	7: 45,728,770	K406M	possibly damaging	Het
Fat2	A	G	11: 55,311,558	I230T	probably damaging	Het
Fbxl16	A	G	17: 25,816,446	I6V	probably benign	Het
Fgf23	T	C	6: 127,073,193	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,821,549	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823	E449G	probably benign	Het
Gbf1	T	G	19: 46,272,037	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,341,265	E157G	probably damaging	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm6625	A	C	8: 89,146,834		noncoding transcript	Het
Gpx4	A	G	10: 80,056,036		probably benign	Het
Grb10	A	G	11: 11,946,029	F264L	possibly damaging	Het
Grik3	T	C	4: 125,694,138	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,036,795		probably benign	Het
Haus8	G	A	8: 71,256,123		probably benign	Het
Hip1	G	A	5: 135,435,141		probably null	Het
Hist3h2ba	A	T	11: 58,949,102	I55F	possibly damaging	Het
Hspbap1	T	A	16: 35,818,764		probably null	Het
Htr2b	T	A	1: 86,099,429	I452F	possibly damaging	Het
Hydin	T	A	8: 110,569,808	H3656Q	probably benign	Het
Klb	T	A	5: 65,348,837	D142E	probably benign	Het
Lamb3	A	T	1: 193,334,616	T777S	possibly damaging	Het
Lins1	C	A	7: 66,714,322	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,281,971	K5R	possibly damaging	Het
Lpp	G	A	16: 24,761,655	M40I	probably damaging	Het
Mia2	A	T	12: 59,170,251		probably benign	Het
Miip	A	C	4: 147,863,092	F204V	probably damaging	Het
Mmp21	T	C	7: 133,677,153	R323G	probably benign	Het
Mta3	T	A	17: 83,755,551		probably benign	Het
Myh1	A	G	11: 67,213,630	K1004R	probably benign	Het
Myh14	T	A	7: 44,632,429	I810F	probably damaging	Het
Nbas	A	C	12: 13,413,597	D1295A	probably damaging	Het
Oas1f	C	A	5: 120,855,429	Q235K	probably damaging	Het
Olfr109	T	A	17: 37,467,047	S280R	probably damaging	Het
Olfr59	G	T	11: 74,289,213	C189F	probably damaging	Het
Olfr60	T	A	7: 140,345,987	M1L	probably benign	Het
Olfr629	T	C	7: 103,741,174	N22S	probably benign	Het
Olfr857	C	T	9: 19,713,090	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Pde1b	A	G	15: 103,525,340		probably null	Het
Pdilt	T	C	7: 119,489,384	T465A	probably benign	Het
Plxnd1	T	C	6: 115,966,546	H1233R	probably damaging	Het
Ppm1b	T	A	17: 84,994,124	M144K	probably benign	Het
Prkdc	T	C	16: 15,808,058	L3316S	probably benign	Het
Prm2	T	A	16: 10,791,591		probably benign	Het
Prmt7	T	C	8: 106,237,008	V240A	probably benign	Het
Prx	C	A	7: 27,518,888	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,490,894	V131A	probably benign	Het
Ric1	T	A	19: 29,600,813		probably null	Het
Rnf150	A	T	8: 82,864,010	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628	R298W	probably damaging	Het
Rp1	T	A	1: 4,347,232	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,684,013		probably null	Het
Sdad1	A	G	5: 92,292,651		probably null	Het
Sept9	T	C	11: 117,353,083		probably benign	Het
Serinc3	T	C	2: 163,645,489		probably benign	Het
Shc3	C	T	13: 51,461,388	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,316,606	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,923,111	I376V	probably benign	Het
Slmap	A	T	14: 26,422,574	F719L	probably benign	Het
Smgc	A	G	15: 91,859,758	N573D	possibly damaging	Het
Spx	G	A	6: 142,414,079		probably null	Het
Srrt	C	G	5: 137,296,945	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,630,597	R78S	probably benign	Het
Tchhl1	A	G	3: 93,471,101	R371G	probably damaging	Het
Teddm2	C	T	1: 153,850,448	A174T	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Trim33	T	C	3: 103,324,640		probably benign	Het
Tspan31	A	G	10: 127,069,458	V40A	probably damaging	Het
Uevld	A	G	7: 46,945,227		probably benign	Het
Vcl	G	T	14: 21,008,995	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,816,224	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,428,107	V212M	probably damaging	Het
Vps13c	A	G	9: 67,936,340	T1968A	probably benign	Het
Vtn	A	G	11: 78,500,567	R269G	probably damaging	Het
Wdcp	G	A	12: 4,850,245	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,752,832	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266	P123L	probably benign	Het
Zfp318	T	C	17: 46,406,055	S1038P	possibly damaging	Het
Zfp873	A	G	10: 82,060,572	D416G	probably benign	Het

Other mutations in Npr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Npr2	APN	4	43641612	missense	possibly damaging	0.51
IGL01116:Npr2	APN	4	43640248	missense	probably damaging	0.99
IGL01447:Npr2	APN	4	43640554	missense	possibly damaging	0.93
IGL02412:Npr2	APN	4	43647005	missense	probably damaging	0.97
IGL02449:Npr2	APN	4	43646641	missense	probably damaging	1.00
IGL03120:Npr2	APN	4	43643133	missense	probably damaging	0.99
IGL03351:Npr2	APN	4	43640652	missense	probably benign	0.36
Anterior	UTSW	4	43643622	missense	probably damaging	1.00
palmar	UTSW	4	43647553	missense	probably damaging	1.00
Plantar	UTSW	4	43640597	missense	probably damaging	1.00
Ventral	UTSW	4	43641254	missense	probably damaging	1.00
R0066:Npr2	UTSW	4	43632329	missense	probably benign	0.00
R0201:Npr2	UTSW	4	43641617	missense	probably damaging	0.98
R0309:Npr2	UTSW	4	43640904	unclassified	probably benign
R0437:Npr2	UTSW	4	43648082	missense	probably damaging	1.00
R0440:Npr2	UTSW	4	43650315	missense	probably damaging	0.99
R0464:Npr2	UTSW	4	43640597	splice site	probably null
R0511:Npr2	UTSW	4	43632801	missense	probably benign	0.00
R0576:Npr2	UTSW	4	43640947	missense	probably benign	0.01
R0630:Npr2	UTSW	4	43641219	missense	probably benign	0.18
R0690:Npr2	UTSW	4	43646991	missense	probably damaging	0.98
R1079:Npr2	UTSW	4	43643654	missense	probably damaging	1.00
R1140:Npr2	UTSW	4	43648353	missense	possibly damaging	0.87
R1171:Npr2	UTSW	4	43647260	missense	possibly damaging	0.52
R1741:Npr2	UTSW	4	43643350	missense	probably damaging	1.00
R1864:Npr2	UTSW	4	43641258	missense	probably benign	0.30
R1919:Npr2	UTSW	4	43640578	missense	probably damaging	1.00
R2054:Npr2	UTSW	4	43646560	missense	probably damaging	0.99
R2106:Npr2	UTSW	4	43644329	missense	probably damaging	1.00
R2143:Npr2	UTSW	4	43648166	missense	probably damaging	1.00
R2306:Npr2	UTSW	4	43633609	missense	probably damaging	1.00
R2372:Npr2	UTSW	4	43650432	missense	probably damaging	1.00
R2889:Npr2	UTSW	4	43641600	missense	probably benign	0.26
R3076:Npr2	UTSW	4	43640182	missense	probably damaging	1.00
R3078:Npr2	UTSW	4	43640182	missense	probably damaging	1.00
R3711:Npr2	UTSW	4	43643378	missense	probably benign	0.00
R3730:Npr2	UTSW	4	43640999	missense	possibly damaging	0.93
R4301:Npr2	UTSW	4	43641332	critical splice donor site	probably null
R4352:Npr2	UTSW	4	43646592	missense	probably damaging	1.00
R4412:Npr2	UTSW	4	43644150	missense	probably damaging	0.99
R4583:Npr2	UTSW	4	43633522	splice site	probably null
R4593:Npr2	UTSW	4	43647323	unclassified	probably benign
R5042:Npr2	UTSW	4	43647002	missense	probably damaging	1.00
R5213:Npr2	UTSW	4	43640673	critical splice donor site	probably null
R5546:Npr2	UTSW	4	43650150	missense	probably damaging	1.00
R5784:Npr2	UTSW	4	43632801	missense	probably benign	0.00
R5787:Npr2	UTSW	4	43633593	missense	possibly damaging	0.69
R6364:Npr2	UTSW	4	43643622	missense	probably damaging	1.00
R6925:Npr2	UTSW	4	43647553	missense	probably damaging	1.00
R6949:Npr2	UTSW	4	43640597	missense	probably damaging	1.00
R7380:Npr2	UTSW	4	43641254	missense	probably damaging	1.00
R7432:Npr2	UTSW	4	43647155	missense	probably damaging	0.96
R7500:Npr2	UTSW	4	43650415	missense	probably damaging	1.00
R8235:Npr2	UTSW	4	43641603	missense	probably benign	0.09
R8292:Npr2	UTSW	4	43643086	missense	possibly damaging	0.70
R9310:Npr2	UTSW	4	43632404	missense	probably benign	0.01
R9684:Npr2	UTSW	4	43632491	missense	probably damaging	1.00
R9746:Npr2	UTSW	4	43633527	missense	possibly damaging	0.64
Z1176:Npr2	UTSW	4	43650720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTTTCTGTATCCGGGC -3'
(R):5'- TCTTAGCTGCAAAGCCAGAGG -3'

Sequencing Primer
(F):5'- TTCTGTATCCGGGCCGACTAAG -3'
(R):5'- TGTGAGGCAAAGCGAGCCA -3'

Posted On

2014-06-23