Mutagenetix > Incidental Mutations

Incidental Mutation 'R6364:Npr2'

513392

Institutional Source

Beutler Lab

Gene Symbol

Npr2

Ensembl Gene

ENSMUSG00000028469

Gene Name

natriuretic peptide receptor 2

Synonyms

pwe, cn, guanylyl cyclase-B

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R6364 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43631935-43651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43643622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 550 (I550N)

Ref Sequence

ENSEMBL: ENSMUSP00000103506 (fasta)

Gene Model

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

AlphaFold

Q6VVW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030191
AA Change: I550N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: I550N

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 damaging
Transcript: ENSMUST00000107874
AA Change: I550N

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

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: I550N

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

unknown
Transcript: ENSMUST00000123351
AA Change: I96N

SMART Domains

Protein: ENSMUSP00000117761
Gene: ENSMUSG00000028469
AA Change: I96N

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: I115N

SMART Domains

Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: I115N

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

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,721,814	Y234C	possibly damaging	Het
Als2cr12	G	T	1: 58,658,372	A403D	probably damaging	Het
Ambra1	C	A	2: 91,773,316	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,710,494		probably null	Het
Apol11b	A	G	15: 77,638,058	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,932,255		probably null	Het
B3galt1	T	A	2: 68,118,672	S244T	probably damaging	Het
Bace2	A	G	16: 97,413,433	I274V	probably benign	Het
Bfsp2	A	T	9: 103,448,628	V272D	probably damaging	Het
Blm	A	T	7: 80,494,526	C782*	probably null	Het
Cfi	G	A	3: 129,872,846	S406N	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	A	7: 25,272,823	H660N	possibly damaging	Het
Cops3	A	G	11: 59,835,404		probably benign	Het
Dlec1	G	A	9: 119,121,871	V502I	possibly damaging	Het
Epop	A	G	11: 97,628,687	S199P	probably benign	Het
Evi5	G	T	5: 107,842,113	P80Q	probably damaging	Het
Faf1	T	C	4: 109,961,800	V623A	possibly damaging	Het
Fam129c	G	A	8: 71,599,089	G23S	probably benign	Het
Fam83c	T	C	2: 155,834,523	D109G	probably damaging	Het
Fam83d	T	C	2: 158,783,259		probably null	Het
Foxn3	T	C	12: 99,388,693	N71D	probably benign	Het
Gm7298	A	G	6: 121,779,443	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,858,454	E396G	possibly damaging	Het
Htra2	C	A	6: 83,053,046	V311F	probably damaging	Het
Kif6	A	T	17: 49,620,623	T33S	probably benign	Het
Kmt2c	T	C	5: 25,309,636	I3070V	probably null	Het
Krtap5-2	A	T	7: 142,175,063	C293*	probably null	Het
Lrp3	T	A	7: 35,203,709	D404V	probably benign	Het
Mc2r	T	G	18: 68,407,536	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,863,004	M253T	possibly damaging	Het
Nfat5	A	G	8: 107,368,277	N531S	probably benign	Het
Npy6r	T	C	18: 44,276,511	I333T	possibly damaging	Het
Nup88	C	T	11: 70,947,786	R468Q	probably benign	Het
Nup98	G	A	7: 102,176,315	T422I	probably damaging	Het
Olfr433	T	A	1: 174,042,212	H87Q	possibly damaging	Het
Oraov1	A	G	7: 144,919,268	D105G	probably benign	Het
Otud4	A	G	8: 79,646,341	N96S	probably damaging	Het
Paqr6	T	C	3: 88,365,958	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,188,035	T90S	probably benign	Het
Ptbp2	A	T	3: 119,740,442	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,462,109	G596V	probably damaging	Het
Rdm1	G	A	11: 101,630,242	R94H	probably benign	Het
Rergl	A	T	6: 139,500,748	F28I	probably damaging	Het
Rif1	G	T	2: 52,107,669	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,821,309	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,260,248	Q72*	probably null	Het
Sdk1	G	T	5: 141,962,709	S603I	probably benign	Het
Sdsl	T	C	5: 120,460,609	I147M	probably damaging	Het
Serpina6	T	C	12: 103,654,236	N85D	probably benign	Het
Serpinf2	A	G	11: 75,436,489	I204T	probably damaging	Het
Shank2	A	G	7: 144,410,409	S795G	probably benign	Het
Simc1	C	T	13: 54,524,600	Q254*	probably null	Het
Slc30a3	G	A	5: 31,088,739	P216S	possibly damaging	Het
Smim14	T	A	5: 65,453,296	I53F	probably benign	Het
Sp3	T	C	2: 72,970,941	T243A	probably benign	Het
Srpk2	A	G	5: 23,540,467	F164L	probably damaging	Het
Stard9	T	C	2: 120,713,429	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,294,725	T267A	possibly damaging	Het
Tgm7	T	A	2: 121,096,397	R424*	probably null	Het
Tmbim6	T	C	15: 99,406,185	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,043,761		probably benign	Het
Tomm7	A	G	5: 23,844,030	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,553,810	Y263C	probably damaging	Het
Trim34b	T	C	7: 104,336,526	F456S	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r108	A	G	17: 20,470,998	I421T	probably benign	Het
Wdr43	A	G	17: 71,657,654	E676G	probably damaging	Het
Wdr60	A	T	12: 116,241,732	D412E	probably damaging	Het
Zcchc14	G	T	8: 121,604,859		probably benign	Het
Zfp64	C	A	2: 168,912,266	G25V	probably damaging	Het
Zswim8	C	A	14: 20,713,011	P326H	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
palmer	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
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
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
Z1176:Npr2	UTSW	4	43650720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCCAACACCGGTCACTTC -3'
(R):5'- CTGGGAATCAGTGATAAATAAGCCC -3'

Sequencing Primer
(F):5'- ACACCGGTCACTTCAAGGTG -3'
(R):5'- CCTTATCCCGTTAGCCAGGGAAC -3'

Posted On

2018-04-27