Mutagenetix > Incidental Mutation

Incidental Mutation 'R7432:Npr2'

576531

Institutional Source

Beutler Lab

Gene Symbol

Npr2

Ensembl Gene

ENSMUSG00000028469

Gene Name

natriuretic peptide receptor 2

Synonyms

pwe, guanylyl cyclase-B, cn

MMRRC Submission

045510-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R7432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43631935-43651244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43647155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 737 (V737A)

Ref Sequence

ENSEMBL: ENSMUSP00000030191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000084646] [ENSMUST00000107870] [ENSMUST00000107874]

AlphaFold

Q6VVW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030191
AA Change: V737A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: V737A

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: ENSMUST00000084646

SMART Domains

Protein: ENSMUSP00000081696
Gene: ENSMUSG00000066196

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	148	175	N/A	INTRINSIC
low complexity region	230	254	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107870

SMART Domains

Protein: ENSMUSP00000103502
Gene: ENSMUSG00000066196

Domain	Start	End	E-Value	Type
low complexity region	26	48	N/A	INTRINSIC
low complexity region	121	145	N/A	INTRINSIC
low complexity region	148	175	N/A	INTRINSIC
low complexity region	230	254	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107874
AA Change: V737A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: V737A

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

SMART Domains

Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: V302A

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

probably benign
Transcript: ENSMUST00000149575

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,468,839 (GRCm39)	I31V	probably benign	Het
Adamts17	A	G	7: 66,701,665 (GRCm39)	K40E		Het
Akr1c14	G	A	13: 4,138,952 (GRCm39)	D312N	probably benign	Het
Alg6	T	C	4: 99,641,295 (GRCm39)	V398A	probably benign	Het
Ankmy1	A	T	1: 92,823,801 (GRCm39)	M155K	probably benign	Het
Arid5b	C	A	10: 67,954,096 (GRCm39)	R396L	probably damaging	Het
Armt1	C	A	10: 4,382,706 (GRCm39)	D12E	probably benign	Het
Arrb2	T	A	11: 70,328,796 (GRCm39)	N217K	probably benign	Het
Atg2b	A	T	12: 105,627,463 (GRCm39)	L508Q	probably damaging	Het
Atg2b	A	T	12: 105,630,957 (GRCm39)	S323T	probably benign	Het
Atp1a3	G	A	7: 24,705,300 (GRCm39)		probably benign	Het
Atp6v0e	T	C	17: 26,901,672 (GRCm39)	V42A	probably benign	Het
Atp9b	A	G	18: 80,809,056 (GRCm39)	V621A		Het
Atrnl1	A	C	19: 57,743,956 (GRCm39)	D1186A	probably damaging	Het
Atxn2l	A	T	7: 126,093,046 (GRCm39)	M821K	possibly damaging	Het
Blnk	G	A	19: 40,948,301 (GRCm39)	R123*	probably null	Het
Bud13	T	A	9: 46,198,372 (GRCm39)	S98T	probably benign	Het
Ccdc183	T	C	2: 25,499,469 (GRCm39)	M455V	probably benign	Het
Cd109	A	G	9: 78,622,225 (GRCm39)	Y1405C	possibly damaging	Het
Cdan1	A	T	2: 120,553,236 (GRCm39)	L989Q	probably damaging	Het
Clec16a	T	C	16: 10,506,419 (GRCm39)	I713T	possibly damaging	Het
Clta	T	A	4: 44,032,419 (GRCm39)	F168L	possibly damaging	Het
Cnnm1	A	T	19: 43,456,710 (GRCm39)	H583L	probably benign	Het
Cyp4f18	A	G	8: 72,749,906 (GRCm39)	Y248H	probably benign	Het
Dsg4	G	T	18: 20,579,323 (GRCm39)	G20*	probably null	Het
Dusp12	T	A	1: 170,707,345 (GRCm39)	K248*	probably null	Het
Eeig2	C	T	3: 108,910,723 (GRCm39)	A51T	probably damaging	Het
Elp1	C	T	4: 56,776,925 (GRCm39)	G624D	probably damaging	Het
Fhod3	A	G	18: 25,134,966 (GRCm39)	D359G	possibly damaging	Het
Frmpd2	C	A	14: 33,229,510 (GRCm39)	F365L	probably damaging	Het
Gab1	A	G	8: 81,515,298 (GRCm39)	I340T	probably benign	Het
Gabpa	C	T	16: 84,654,408 (GRCm39)	Q362*	probably null	Het
Gcnt2	A	T	13: 41,040,688 (GRCm39)		probably benign	Het
Gm12728	T	A	4: 105,651,486 (GRCm39)	L32Q	probably damaging	Het
Gpatch4	A	G	3: 87,959,003 (GRCm39)	N35D	probably damaging	Het
Grid2	G	T	6: 64,252,854 (GRCm39)	V441L	possibly damaging	Het
H2-M2	A	G	17: 37,792,361 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,829 (GRCm39)	F180L	probably benign	Het
Il17re	T	C	6: 113,439,332 (GRCm39)	F81L	probably benign	Het
Il3ra	T	C	14: 14,350,691 (GRCm38)	V235A	possibly damaging	Het
Krtap6-2	C	T	16: 89,216,761 (GRCm39)	G69S	unknown	Het
Lmln	T	C	16: 32,909,738 (GRCm39)	L373P	probably damaging	Het
Lmo7	C	A	14: 102,139,551 (GRCm39)	Q945K	probably benign	Het
Loxhd1	G	T	18: 77,383,547 (GRCm39)	V149L	possibly damaging	Het
Lrrc73	T	C	17: 46,566,709 (GRCm39)		probably null	Het
Mapkapk5	G	A	5: 121,675,234 (GRCm39)	H112Y	possibly damaging	Het
Maz	A	G	7: 126,622,220 (GRCm39)	V467A	probably benign	Het
Med13l	T	G	5: 118,890,003 (GRCm39)	V1884G	probably damaging	Het
Nlrp12	A	C	7: 3,271,213 (GRCm39)	N1033K	probably benign	Het
Nos3	T	A	5: 24,572,613 (GRCm39)	V184E	probably damaging	Het
Nsd1	A	G	13: 55,361,187 (GRCm39)	T52A	probably benign	Het
Obscn	C	T	11: 58,919,733 (GRCm39)	R108Q		Het
Or4k50-ps1	A	G	2: 111,522,401 (GRCm39)	*179W	probably null	Het
Or4x11	A	T	2: 89,867,528 (GRCm39)	K88N	probably damaging	Het
Or5t5	G	T	2: 86,616,565 (GRCm39)	G164*	probably null	Het
Or5w22	T	C	2: 87,362,784 (GRCm39)	S136P	probably damaging	Het
Or6c70	T	C	10: 129,709,719 (GRCm39)	I302M	probably benign	Het
Or9a4	C	A	6: 40,549,240 (GRCm39)	R307S	probably benign	Het
Ovol2	A	G	2: 144,159,792 (GRCm39)	V116A	probably benign	Het
Pcdha5	C	A	18: 37,095,379 (GRCm39)	S629R	probably benign	Het
Pde4dip	T	A	3: 97,602,408 (GRCm39)	M2274L	probably benign	Het
Pdpk1	T	C	17: 24,320,643 (GRCm39)	T185A	probably benign	Het
Pip5k1a	T	G	3: 94,981,431 (GRCm39)	T67P	probably benign	Het
Plat	G	T	8: 23,263,667 (GRCm39)	V189F	probably damaging	Het
Ppm1a	C	T	12: 72,830,916 (GRCm39)	S147L	probably damaging	Het
Prim1	T	A	10: 127,851,885 (GRCm39)	D52E	probably damaging	Het
Prkab1	C	G	5: 116,162,221 (GRCm39)	D30H	possibly damaging	Het
Psma6	A	T	12: 55,445,613 (GRCm39)		probably benign	Het
Psmd2	T	A	16: 20,473,675 (GRCm39)	M196K	probably damaging	Het
Ralgapa2	G	T	2: 146,276,776 (GRCm39)	T488K	probably benign	Het
Rapgefl1	A	G	11: 98,741,940 (GRCm39)	K635E	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rgs11	G	A	17: 26,426,734 (GRCm39)	V289M	probably damaging	Het
Ro60	T	C	1: 143,641,548 (GRCm39)	I304M	probably benign	Het
Scmh1	T	C	4: 120,386,353 (GRCm39)	L631P	probably damaging	Het
Sema3e	T	G	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Sh3rf2	T	C	18: 42,187,091 (GRCm39)	V70A	probably damaging	Het
Slc12a1	G	T	2: 125,047,960 (GRCm39)	V801L	probably benign	Het
Slc25a51	C	G	4: 45,399,765 (GRCm39)	A142P	possibly damaging	Het
Slc41a1	C	T	1: 131,758,694 (GRCm39)	T112I	probably damaging	Het
Slc44a2	T	C	9: 21,254,511 (GRCm39)	M264T	probably benign	Het
Snapc1	T	A	12: 74,015,068 (GRCm39)	M134K	probably benign	Het
Snrk	T	C	9: 121,986,276 (GRCm39)	F215S	probably damaging	Het
Stab2	T	C	10: 86,721,547 (GRCm39)	E1526G	probably damaging	Het
Tbc1d10a	C	A	11: 4,163,016 (GRCm39)	Y260*	probably null	Het
Tdrd5	A	T	1: 156,130,002 (GRCm39)	L56Q	probably damaging	Het
Tenm2	T	C	11: 36,755,768 (GRCm39)	T77A	probably benign	Het
Tmprss11g	T	G	5: 86,644,366 (GRCm39)	R159S	possibly damaging	Het
Traj38	T	A	14: 54,418,034 (GRCm39)	N1K		Het
Ttn	A	G	2: 76,596,631 (GRCm39)	I20094T	possibly damaging	Het
Ubr4	T	C	4: 139,115,693 (GRCm39)	L64P	probably damaging	Het
Utp20	C	T	10: 88,634,260 (GRCm39)	R812Q	probably benign	Het
Vmn2r57	C	A	7: 41,076,148 (GRCm39)	V455L	probably benign	Het
Wdcp	T	C	12: 4,900,246 (GRCm39)	V34A	probably damaging	Het
Zfp27	C	T	7: 29,594,784 (GRCm39)	V394I	probably benign	Het
Zfp512b	T	C	2: 181,231,649 (GRCm39)	H177R	probably benign	Het
Zfp648	T	A	1: 154,080,783 (GRCm39)	M314K	possibly damaging	Het
Zfp811	T	C	17: 33,017,733 (GRCm39)	I102M	possibly damaging	Het
Zkscan6	A	G	11: 65,705,189 (GRCm39)		probably null	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
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
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'- GCAGATGTCTACAGCTTTGCC -3'
(R):5'- CGCATCCACTGAGAATGATAATG -3'

Sequencing Primer
(F):5'- TGCCATCATTCTACAGGAAATAGC -3'
(R):5'- GAGAATGATAATGTTTCTGTCCCCCG -3'

Posted On

2019-10-07