Mutagenetix > Incidental Mutation

Incidental Mutation 'R1741:Npr2'

200329

Institutional Source

Beutler Lab

Gene Symbol

Npr2

Ensembl Gene

ENSMUSG00000028469

Gene Name

natriuretic peptide receptor 2

Synonyms

pwe, cn, guanylyl cyclase-B

MMRRC Submission

039773-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R1741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43631935-43651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43643350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 525 (G525S)

Ref Sequence

ENSEMBL: ENSMUSP00000030191 (fasta)

Gene Model

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

AlphaFold

Q6VVW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030191
AA Change: G525S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: G525S

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: G525S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: G525S

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

probably benign
Transcript: ENSMUST00000123351

SMART Domains

Protein: ENSMUSP00000117761
Gene: ENSMUSG00000028469

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
Pfam:Pkinase_Tyr	71	173	1.3e-12	PFAM
Pfam:Pkinase	85	170	1.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123883

Predicted Effect

unknown
Transcript: ENSMUST00000128549
AA Change: G90S

SMART Domains

Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: G90S

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Pkinase_Tyr	84	352	1e-39	PFAM
Pfam:Pkinase	101	351	2.6e-33	PFAM
CYCc	391	585	3.28e-111	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151603

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,660,506	N37S	probably damaging	Het
9530053A07Rik	G	T	7: 28,157,854	C2209F	probably damaging	Het
Acad10	T	C	5: 121,647,836	K230R	probably damaging	Het
Actl7a	A	G	4: 56,744,252	N260D	probably benign	Het
Adam24	T	C	8: 40,679,603	Y37H	probably benign	Het
Ahcy	G	A	2: 155,064,234	A229V	probably benign	Het
Ap3b2	A	G	7: 81,467,599	V563A	possibly damaging	Het
Bcl9l	T	A	9: 44,509,689	M1427K	probably damaging	Het
Btf3	C	T	13: 98,316,296	M1I	probably null	Het
Btg4	A	T	9: 51,116,610	I27L	probably benign	Het
Ccdc171	A	G	4: 83,620,839	Y366C	probably damaging	Het
Chd3	A	G	11: 69,355,654	Y1085H	probably damaging	Het
Cnot10	T	C	9: 114,597,824	D616G	possibly damaging	Het
Crlf1	C	A	8: 70,500,906	D243E	probably damaging	Het
Cyp2b23	A	G	7: 26,673,077	V371A	possibly damaging	Het
Dennd2a	A	G	6: 39,493,157	S534P	probably damaging	Het
Eln	A	G	5: 134,729,184	V185A	unknown	Het
Epor	C	T	9: 21,959,771	G301D	probably damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fbxl21	A	T	13: 56,537,102	T340S	probably benign	Het
Fez1	T	A	9: 36,843,733	D9E	probably damaging	Het
Fsip2	T	C	2: 82,989,912	F5330L	probably benign	Het
Glis1	G	A	4: 107,568,347	R197Q	probably damaging	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gpr158	A	G	2: 21,827,548	N1153S	probably benign	Het
Gramd4	T	C	15: 86,091,529		probably null	Het
Hhatl	T	A	9: 121,789,059	Y210F	possibly damaging	Het
Hltf	T	C	3: 20,086,188	W422R	probably damaging	Het
Hspa5	T	C	2: 34,772,692	S87P	possibly damaging	Het
Il21	T	C	3: 37,227,662	H111R	probably benign	Het
Ip6k1	G	A	9: 108,040,984	G73S	probably benign	Het
Kdm5b	A	G	1: 134,618,017	D972G	possibly damaging	Het
Kif21b	C	T	1: 136,156,142	A709V	probably damaging	Het
Kmt2d	T	C	15: 98,845,234		probably benign	Het
Lrrc14b	A	G	13: 74,363,586	L125P	probably damaging	Het
Mapk8ip3	A	G	17: 24,899,854	S1169P	probably damaging	Het
Me3	A	T	7: 89,851,833	Y584F	probably damaging	Het
Mxra7	T	G	11: 116,816,244		probably null	Het
Nf1	T	C	11: 79,443,931	S870P	probably benign	Het
Nyap1	A	T	5: 137,733,125	S726T	probably damaging	Het
Padi4	A	G	4: 140,746,170	V652A	probably damaging	Het
Pclo	A	G	5: 14,676,510		probably benign	Het
Pgm2	G	A	4: 99,964,865		probably null	Het
Piezo2	A	G	18: 63,021,173	S2512P	probably damaging	Het
Ptbp3	A	T	4: 59,482,624	D386E	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpn3	A	G	4: 57,254,922	V154A	probably damaging	Het
Rassf4	T	C	6: 116,639,489	E287G	probably damaging	Het
Rnh1	C	T	7: 141,164,023	R174H	probably benign	Het
Scn9a	T	A	2: 66,487,594	I1517F	probably damaging	Het
Sftpb	C	A	6: 72,305,813	A90E	probably benign	Het
Slc39a14	T	C	14: 70,318,744	K61R	probably damaging	Het
Tmem132d	A	C	5: 127,784,858	M733R	probably benign	Het
Tmem248	A	G	5: 130,236,823	I156V	probably benign	Het
Traf2	T	C	2: 25,524,483	D339G	probably damaging	Het
Trappc11	A	G	8: 47,529,327		probably null	Het
Tuba8	T	A	6: 121,222,768	I137N	possibly damaging	Het
Txlnb	A	G	10: 17,838,947	T376A	probably damaging	Het
Usp34	A	G	11: 23,364,103	T663A	probably benign	Het
Vmn2r26	T	A	6: 124,061,472	F669I	probably damaging	Het
Wdr95	G	A	5: 149,595,396		probably null	Het
Wfdc8	T	G	2: 164,608,869		probably benign	Het
Zfp64	A	C	2: 168,926,318	V458G	probably benign	Het
Zfp868	C	T	8: 69,611,868	G272D	probably damaging	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
R1848:Npr2	UTSW	4	43632384	missense	probably benign
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'- GGCAACTCGGATCGCTATCACAAG -3'
(R):5'- TTCCCTAAGGTGGGGTGGAAACAG -3'

Sequencing Primer
(F):5'- ATCGCTATCACAAGGGTGC -3'
(R):5'- CCAAGAACCTCGCTGGGAAG -3'

Posted On

2014-05-23