Mutagenetix > Incidental Mutation

Incidental Mutation 'R0630:Npr2'

57818

Institutional Source

Beutler Lab

Gene Symbol

Npr2

Ensembl Gene

ENSMUSG00000028469

Gene Name

natriuretic peptide receptor 2

Synonyms

pwe, guanylyl cyclase-B, cn

MMRRC Submission

038819-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R0630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43631935-43651244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43641219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 415 (E415V)

Ref Sequence

ENSEMBL: ENSMUSP00000030191 (fasta)

Gene Model

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

AlphaFold

Q6VVW5

Predicted Effect

probably benign
Transcript: ENSMUST00000030191
AA Change: E415V

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: E415V

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: E415V

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

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: E415V

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

probably benign
Transcript: ENSMUST00000128549

SMART Domains

Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469

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: ENSMUST00000137535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145817

Meta Mutation Damage Score

0.0615

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

97% (108/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,766,104 (GRCm39)		probably benign	Het
4930562C15Rik	T	A	16: 4,668,803 (GRCm39)	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,432,500 (GRCm39)	K113*	probably null	Het
Adgrl2	T	C	3: 148,544,880 (GRCm39)	I659M	probably damaging	Het
Adm	G	T	7: 110,227,755 (GRCm39)	R41L	probably damaging	Het
Aimp2	T	C	5: 143,843,419 (GRCm39)	E97G	probably benign	Het
Aox1	T	C	1: 58,376,480 (GRCm39)		probably benign	Het
Arhgap20	G	A	9: 51,760,684 (GRCm39)	R809H	probably damaging	Het
Arsa	T	C	15: 89,358,207 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,294,547 (GRCm39)	A88S	probably damaging	Het
Atm	G	A	9: 53,442,922 (GRCm39)		probably benign	Het
Atp1a2	A	T	1: 172,118,842 (GRCm39)	I100N	possibly damaging	Het
Camta2	G	C	11: 70,569,131 (GRCm39)	L605V	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,274,440 (GRCm39)	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,185,422 (GRCm39)		probably benign	Het
Cdyl2	C	T	8: 117,350,774 (GRCm39)	G119E	probably benign	Het
Celsr3	A	G	9: 108,704,891 (GRCm39)	N458S	probably damaging	Het
Chd3	A	C	11: 69,238,021 (GRCm39)	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,965,694 (GRCm39)	V835A	probably damaging	Het
Col4a1	C	A	8: 11,249,889 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,486,171 (GRCm39)	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,504,107 (GRCm39)		probably benign	Het
Cts8	T	C	13: 61,401,256 (GRCm39)	K90R	possibly damaging	Het
Cux1	A	G	5: 136,315,689 (GRCm39)	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,282,444 (GRCm39)	T254A	probably damaging	Het
Dgki	C	A	6: 36,977,133 (GRCm39)	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,236,612 (GRCm39)	D332A	probably damaging	Het
Dock8	C	A	19: 25,038,524 (GRCm39)	T70K	probably benign	Het
Dsc1	T	A	18: 20,218,919 (GRCm39)	T828S	probably damaging	Het
Dst	T	G	1: 34,232,531 (GRCm39)	V3510G	probably benign	Het
Dst	T	C	1: 34,238,554 (GRCm39)	V1738A	probably damaging	Het
Ehmt2	A	G	17: 35,118,818 (GRCm39)	T167A	probably benign	Het
Eri2	A	T	7: 119,385,640 (GRCm39)	V287E	probably benign	Het
Fat4	T	A	3: 39,054,321 (GRCm39)	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,236,690 (GRCm39)	D330V	possibly damaging	Het
Fign	A	G	2: 63,810,485 (GRCm39)	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 105,282,763 (GRCm39)	M593I	probably benign	Het
Fndc7	T	A	3: 108,783,931 (GRCm39)	E226V	probably damaging	Het
Gad2	A	T	2: 22,580,348 (GRCm39)	Q583L	probably benign	Het
Gcn1	G	A	5: 115,719,148 (GRCm39)	A334T	probably benign	Het
Ggt1	A	G	10: 75,421,336 (GRCm39)		probably null	Het
Gli2	C	T	1: 118,769,648 (GRCm39)	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,646,420 (GRCm39)	E93G	unknown	Het
Gm10428	A	G	11: 62,644,256 (GRCm39)		probably benign	Het
Gm7104	T	C	12: 88,252,479 (GRCm39)		noncoding transcript	Het
Gm8258	T	G	5: 104,924,385 (GRCm39)		noncoding transcript	Het
Gpr107	A	G	2: 31,104,309 (GRCm39)	N538S	possibly damaging	Het
Hars1	T	C	18: 36,904,442 (GRCm39)	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,875,917 (GRCm39)	P209S	probably benign	Het
Ighg3	T	C	12: 113,323,714 (GRCm39)		probably benign	Het
Igsf10	C	A	3: 59,233,483 (GRCm39)	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,174,023 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,563,615 (GRCm39)		probably benign	Het
Ldhd	T	C	8: 112,353,934 (GRCm39)	K422R	probably benign	Het
Masp1	T	C	16: 23,271,169 (GRCm39)	K693R	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mbd1	T	A	18: 74,409,798 (GRCm39)		probably benign	Het
Mdm4	G	A	1: 132,919,491 (GRCm39)	T459I	possibly damaging	Het
Megf10	A	T	18: 57,421,067 (GRCm39)	I902F	probably benign	Het
Mta3	A	G	17: 84,022,056 (GRCm39)	N37S	probably damaging	Het
Mterf3	T	A	13: 67,060,372 (GRCm39)	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,465,102 (GRCm39)		probably benign	Het
Nbr1	T	C	11: 101,457,913 (GRCm39)		probably benign	Het
Ndst3	A	G	3: 123,355,720 (GRCm39)	M103T	probably damaging	Het
Notch3	C	A	17: 32,366,446 (GRCm39)		probably benign	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or4k40	T	C	2: 111,251,191 (GRCm39)	Y35C	probably damaging	Het
Or52h9	G	C	7: 104,202,998 (GRCm39)	V291L	probably benign	Het
Or5be3	A	T	2: 86,863,653 (GRCm39)	M304K	probably benign	Het
Or8b50	T	A	9: 38,518,192 (GRCm39)	F144I	probably benign	Het
Pappa2	T	A	1: 158,660,343 (GRCm39)	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,954,931 (GRCm39)	D735V	probably benign	Het
Pik3ca	A	G	3: 32,504,176 (GRCm39)	Y622C	possibly damaging	Het
Plppr2	A	G	9: 21,859,197 (GRCm39)	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,337,806 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,638,907 (GRCm39)	L77Q	probably null	Het
Prdm8	T	C	5: 98,332,380 (GRCm39)	S94P	probably damaging	Het
Prkdc	A	T	16: 15,628,665 (GRCm39)	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,384,674 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,688,076 (GRCm39)	H206L	probably benign	Het
Rack1	G	A	11: 48,694,804 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,703,545 (GRCm39)	L1509P	probably damaging	Het
Rgma	T	A	7: 73,067,366 (GRCm39)	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,094,324 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,973 (GRCm39)	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,211,764 (GRCm39)	F358C	probably damaging	Het
Robo2	T	C	16: 73,713,093 (GRCm39)	D1217G	probably benign	Het
Shc2	A	T	10: 79,461,975 (GRCm39)	W357R	probably null	Het
Slc25a45	T	C	19: 5,930,556 (GRCm39)	L81P	probably damaging	Het
Slc9c1	A	T	16: 45,363,483 (GRCm39)		probably benign	Het
Spats2	T	C	15: 99,083,909 (GRCm39)		probably null	Het
Stac3	A	T	10: 127,343,632 (GRCm39)	E258V	probably damaging	Het
Thada	A	G	17: 84,536,603 (GRCm39)	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,064 (GRCm39)	T222A	probably benign	Het
Tmtc4	T	C	14: 123,163,502 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,260,551 (GRCm39)	S292P	probably damaging	Het
Trim38	T	G	13: 23,975,115 (GRCm39)	Y351*	probably null	Het
Trip12	T	C	1: 84,771,636 (GRCm39)	R213G	possibly damaging	Het
Vav3	C	T	3: 109,331,328 (GRCm39)	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,806,263 (GRCm39)	P123H	probably damaging	Het
Wdr5	A	G	2: 27,410,619 (GRCm39)	N130S	probably benign	Het
Wnk4	C	A	11: 101,156,212 (GRCm39)	R27S	probably damaging	Het
Ykt6	G	A	11: 5,909,323 (GRCm39)	S44N	probably benign	Het
Ythdc1	T	A	5: 86,957,207 (GRCm39)		probably benign	Het

Other mutations in Npr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Npr2	APN	4	43,641,612 (GRCm39)	missense	possibly damaging	0.51
IGL01116:Npr2	APN	4	43,640,248 (GRCm39)	missense	probably damaging	0.99
IGL01447:Npr2	APN	4	43,640,554 (GRCm39)	missense	possibly damaging	0.93
IGL02412:Npr2	APN	4	43,647,005 (GRCm39)	missense	probably damaging	0.97
IGL02449:Npr2	APN	4	43,646,641 (GRCm39)	missense	probably damaging	1.00
IGL03120:Npr2	APN	4	43,643,133 (GRCm39)	missense	probably damaging	0.99
IGL03351:Npr2	APN	4	43,640,652 (GRCm39)	missense	probably benign	0.36
Anterior	UTSW	4	43,643,622 (GRCm39)	missense	probably damaging	1.00
palmar	UTSW	4	43,647,553 (GRCm39)	missense	probably damaging	1.00
Plantar	UTSW	4	43,640,597 (GRCm39)	missense	probably damaging	1.00
Ventral	UTSW	4	43,641,254 (GRCm39)	missense	probably damaging	1.00
R0066:Npr2	UTSW	4	43,632,329 (GRCm39)	missense	probably benign	0.00
R0201:Npr2	UTSW	4	43,641,617 (GRCm39)	missense	probably damaging	0.98
R0309:Npr2	UTSW	4	43,640,904 (GRCm39)	unclassified	probably benign
R0437:Npr2	UTSW	4	43,648,082 (GRCm39)	missense	probably damaging	1.00
R0440:Npr2	UTSW	4	43,650,315 (GRCm39)	missense	probably damaging	0.99
R0464:Npr2	UTSW	4	43,640,597 (GRCm39)	splice site	probably null
R0511:Npr2	UTSW	4	43,632,801 (GRCm39)	missense	probably benign	0.00
R0576:Npr2	UTSW	4	43,640,947 (GRCm39)	missense	probably benign	0.01
R0690:Npr2	UTSW	4	43,646,991 (GRCm39)	missense	probably damaging	0.98
R1079:Npr2	UTSW	4	43,643,654 (GRCm39)	missense	probably damaging	1.00
R1140:Npr2	UTSW	4	43,648,353 (GRCm39)	missense	possibly damaging	0.87
R1171:Npr2	UTSW	4	43,647,260 (GRCm39)	missense	possibly damaging	0.52
R1741:Npr2	UTSW	4	43,643,350 (GRCm39)	missense	probably damaging	1.00
R1848:Npr2	UTSW	4	43,632,384 (GRCm39)	missense	probably benign
R1864:Npr2	UTSW	4	43,641,258 (GRCm39)	missense	probably benign	0.30
R1919:Npr2	UTSW	4	43,640,578 (GRCm39)	missense	probably damaging	1.00
R2054:Npr2	UTSW	4	43,646,560 (GRCm39)	missense	probably damaging	0.99
R2106:Npr2	UTSW	4	43,644,329 (GRCm39)	missense	probably damaging	1.00
R2143:Npr2	UTSW	4	43,648,166 (GRCm39)	missense	probably damaging	1.00
R2306:Npr2	UTSW	4	43,633,609 (GRCm39)	missense	probably damaging	1.00
R2372:Npr2	UTSW	4	43,650,432 (GRCm39)	missense	probably damaging	1.00
R2889:Npr2	UTSW	4	43,641,600 (GRCm39)	missense	probably benign	0.26
R3076:Npr2	UTSW	4	43,640,182 (GRCm39)	missense	probably damaging	1.00
R3078:Npr2	UTSW	4	43,640,182 (GRCm39)	missense	probably damaging	1.00
R3711:Npr2	UTSW	4	43,643,378 (GRCm39)	missense	probably benign	0.00
R3730:Npr2	UTSW	4	43,640,999 (GRCm39)	missense	possibly damaging	0.93
R4301:Npr2	UTSW	4	43,641,332 (GRCm39)	critical splice donor site	probably null
R4352:Npr2	UTSW	4	43,646,592 (GRCm39)	missense	probably damaging	1.00
R4412:Npr2	UTSW	4	43,644,150 (GRCm39)	missense	probably damaging	0.99
R4583:Npr2	UTSW	4	43,633,522 (GRCm39)	splice site	probably null
R4593:Npr2	UTSW	4	43,647,323 (GRCm39)	unclassified	probably benign
R5042:Npr2	UTSW	4	43,647,002 (GRCm39)	missense	probably damaging	1.00
R5213:Npr2	UTSW	4	43,640,673 (GRCm39)	critical splice donor site	probably null
R5546:Npr2	UTSW	4	43,650,150 (GRCm39)	missense	probably damaging	1.00
R5784:Npr2	UTSW	4	43,632,801 (GRCm39)	missense	probably benign	0.00
R5787:Npr2	UTSW	4	43,633,593 (GRCm39)	missense	possibly damaging	0.69
R6364:Npr2	UTSW	4	43,643,622 (GRCm39)	missense	probably damaging	1.00
R6925:Npr2	UTSW	4	43,647,553 (GRCm39)	missense	probably damaging	1.00
R6949:Npr2	UTSW	4	43,640,597 (GRCm39)	missense	probably damaging	1.00
R7380:Npr2	UTSW	4	43,641,254 (GRCm39)	missense	probably damaging	1.00
R7432:Npr2	UTSW	4	43,647,155 (GRCm39)	missense	probably damaging	0.96
R7500:Npr2	UTSW	4	43,650,415 (GRCm39)	missense	probably damaging	1.00
R8235:Npr2	UTSW	4	43,641,603 (GRCm39)	missense	probably benign	0.09
R8292:Npr2	UTSW	4	43,643,086 (GRCm39)	missense	possibly damaging	0.70
R9310:Npr2	UTSW	4	43,632,404 (GRCm39)	missense	probably benign	0.01
R9684:Npr2	UTSW	4	43,632,491 (GRCm39)	missense	probably damaging	1.00
R9746:Npr2	UTSW	4	43,633,527 (GRCm39)	missense	possibly damaging	0.64
Z1176:Npr2	UTSW	4	43,650,720 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACCGCGAGACTGATTTCGTCC -3'
(R):5'- CCACGATTGCCAGAGTGGAAAGTG -3'

Sequencing Primer
(F):5'- GAGACTTGGATTCTGGGGAC -3'
(R):5'- CCCTGAGAAAGACTGGAGTG -3'

Posted On

2013-07-11