Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Npr2'

212823

Institutional Source

Beutler Lab

Gene Symbol

Npr2

Ensembl Gene

ENSMUSG00000028469

Gene Name

natriuretic peptide receptor 2

Synonyms

pwe, guanylyl cyclase-B, cn

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43631935-43651244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43640578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 344 (Y344N)

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: Y344N

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

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: Y344N

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: Y344N

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

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: Y344N

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,031 (GRCm39)	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 35,817,414 (GRCm39)	V105F	possibly damaging	Het
Actr10	A	G	12: 70,989,104 (GRCm39)	I74M	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Afm	A	T	5: 90,672,779 (GRCm39)	K205*	probably null	Het
Ankrd27	T	A	7: 35,332,410 (GRCm39)	S846T	probably benign	Het
Ano3	A	G	2: 110,715,352 (GRCm39)	S29P	probably benign	Het
Apaf1	C	T	10: 90,913,476 (GRCm39)	W138*	probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgef4	A	G	1: 34,850,221 (GRCm39)	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,337,541 (GRCm39)	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,092,340 (GRCm39)	T70I	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bltp1	A	G	3: 37,061,132 (GRCm39)		probably null	Het
Bspry	T	A	4: 62,413,034 (GRCm39)	C256S	probably damaging	Het
C3	C	A	17: 57,527,135 (GRCm39)	W771C	probably damaging	Het
Camkv	A	G	9: 107,824,287 (GRCm39)	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,942,548 (GRCm39)	V109E	probably damaging	Het
Cd101	A	G	3: 100,926,233 (GRCm39)	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,283,603 (GRCm39)	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,516,457 (GRCm39)	Q380E	probably benign	Het
Col6a3	T	C	1: 90,750,081 (GRCm39)	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,918,594 (GRCm39)	V82A	possibly damaging	Het
Cux1	G	A	5: 136,392,173 (GRCm39)	Q194*	probably null	Het
Daam2	T	C	17: 49,792,485 (GRCm39)	E361G	probably benign	Het
Dcaf17	A	T	2: 70,908,516 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,570,020 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993 (GRCm39)	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969 (GRCm39)	M988T	possibly damaging	Het
Fancm	T	C	12: 65,152,294 (GRCm39)	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gm3604	G	T	13: 62,517,756 (GRCm39)	H201N	probably benign	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpatch8	A	G	11: 102,398,968 (GRCm39)		probably null	Het
H2-M3	T	C	17: 37,582,080 (GRCm39)	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,781,385 (GRCm39)	S62R	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hrg	A	T	16: 22,773,207 (GRCm39)	Q113H	probably damaging	Het
Kcnj16	T	C	11: 110,915,779 (GRCm39)	V147A	possibly damaging	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,731,642 (GRCm39)		probably benign	Het
Krt90	A	T	15: 101,465,665 (GRCm39)	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,476,671 (GRCm39)	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,618,741 (GRCm39)	T225K	probably benign	Het
Map1a	C	T	2: 121,137,493 (GRCm39)	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,119,600 (GRCm39)	D193G	probably benign	Het
Mpped2	T	A	2: 106,697,377 (GRCm39)	I284N	probably damaging	Het
Msh6	A	G	17: 88,292,553 (GRCm39)	H436R	probably benign	Het
Mterf3	A	T	13: 67,078,126 (GRCm39)	S48T	probably damaging	Het
Muc5b	T	C	7: 141,399,768 (GRCm39)	F414L	unknown	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Nherf4	T	C	9: 44,161,600 (GRCm39)	D93G	possibly damaging	Het
Nploc4	A	G	11: 120,295,055 (GRCm39)	Y420H	probably damaging	Het
Nsun5	A	G	5: 135,404,452 (GRCm39)	T397A	probably benign	Het
Ntsr2	A	T	12: 16,704,111 (GRCm39)	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,963,523 (GRCm39)	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,843,618 (GRCm39)	V105A	possibly damaging	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Parp3	T	A	9: 106,352,316 (GRCm39)	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,861,474 (GRCm39)	S936P	probably damaging	Het
Phkb	A	G	8: 86,648,790 (GRCm39)	E202G	probably benign	Het
Pink1	T	C	4: 138,041,331 (GRCm39)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm39)	D338G	probably damaging	Het
Prss8	G	T	7: 127,529,030 (GRCm39)	L9I	probably benign	Het
Ptpn22	G	A	3: 103,784,054 (GRCm39)		probably null	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Rasef	A	G	4: 73,662,351 (GRCm39)	S200P	possibly damaging	Het
Rb1	T	A	14: 73,450,430 (GRCm39)	K645*	probably null	Het
Robo2	C	T	16: 73,696,042 (GRCm39)	G1367D	probably benign	Het
Rp1	A	G	1: 4,422,894 (GRCm39)	V52A	probably damaging	Het
Samd13	T	C	3: 146,368,467 (GRCm39)	T23A	probably benign	Het
Scn7a	T	C	2: 66,530,317 (GRCm39)	H676R	probably damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Slc2a8	T	C	2: 32,870,091 (GRCm39)	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,937,196 (GRCm39)	R88L	probably damaging	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Slit2	C	A	5: 48,348,358 (GRCm39)		probably benign	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Sptlc3	A	G	2: 139,408,595 (GRCm39)	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,465,353 (GRCm39)	T334I	probably damaging	Het
Syt5	G	T	7: 4,543,278 (GRCm39)	T327N	probably damaging	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tnks	A	T	8: 35,342,386 (GRCm39)	V388D	probably damaging	Het
Ugt2b1	T	C	5: 87,073,859 (GRCm39)	T167A	probably benign	Het
Usp40	G	A	1: 87,923,564 (GRCm39)	R236C	possibly damaging	Het
Utrn	T	C	10: 12,331,224 (GRCm39)	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,689,969 (GRCm39)	S282P	possibly damaging	Het
Vps45	T	C	3: 95,953,752 (GRCm39)	E200G	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	probably damaging	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
R0630:Npr2	UTSW	4	43,641,219 (GRCm39)	missense	probably benign	0.18
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
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'- ATCCAGGCTACTACCCTTTGAC -3'
(R):5'- CTGGAGTAGCTGTCTTCTGC -3'

Sequencing Primer
(F):5'- TACCCTTTGACCCCGGGAC -3'
(R):5'- GAGTAGCTGTCTTCTGCCCACTG -3'

Posted On

2014-07-14