Incidental Mutation 'R2372:Npr2'
ID 248153
Institutional Source Beutler Lab
Gene Symbol Npr2
Ensembl Gene ENSMUSG00000028469
Gene Name natriuretic peptide receptor 2
Synonyms pwe, guanylyl cyclase-B, cn
MMRRC Submission 040352-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # R2372 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43631935-43651244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43650432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 976 (R976W)
Ref Sequence ENSEMBL: ENSMUSP00000030191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000030192] [ENSMUST00000084646] [ENSMUST00000107870] [ENSMUST00000107874]
AlphaFold Q6VVW5
Predicted Effect probably damaging
Transcript: ENSMUST00000030191
AA Change: R976W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: R976W

DomainStartEndE-ValueType
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: ENSMUST00000030192
SMART Domains Protein: ENSMUSP00000030192
Gene: ENSMUSG00000028470

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:DcpS_C 53 159 7.1e-25 PFAM
Pfam:HIT 61 158 1.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084646
SMART Domains Protein: ENSMUSP00000081696
Gene: ENSMUSG00000066196

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000107874
AA Change: P999L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: P999L

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000123883
Predicted Effect unknown
Transcript: ENSMUST00000128549
AA Change: R541W
SMART Domains Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: R541W

DomainStartEndE-ValueType
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: ENSMUST00000130593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151238
Predicted Effect probably benign
Transcript: ENSMUST00000149575
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,009,704 (GRCm39) L135S probably damaging Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpi G T 1: 87,028,316 (GRCm39) T169N probably damaging Het
Ccdc15 T C 9: 37,226,801 (GRCm39) D378G possibly damaging Het
Cpb2 T G 14: 75,505,490 (GRCm39) V162G probably damaging Het
Dnmbp T C 19: 43,890,759 (GRCm39) E336G probably benign Het
Dok6 G C 18: 89,432,988 (GRCm39) R274G probably null Het
Eef1d G A 15: 75,768,166 (GRCm39) R199C probably damaging Het
Epha8 T C 4: 136,660,321 (GRCm39) Y714C probably damaging Het
Fyb1 T C 15: 6,681,388 (GRCm39) probably benign Het
Gfpt2 A G 11: 49,698,542 (GRCm39) N46D probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm11596 C A 11: 99,684,082 (GRCm39) E13* probably null Het
Gsx2 T C 5: 75,237,713 (GRCm39) F222L probably damaging Het
Hpca T A 4: 129,012,237 (GRCm39) K100* probably null Het
Iqsec1 A G 6: 90,671,636 (GRCm39) S89P probably damaging Het
Kif12 T A 4: 63,086,796 (GRCm39) T347S possibly damaging Het
Knop1 A G 7: 118,452,440 (GRCm39) L93S probably damaging Het
Mib1 A G 18: 10,812,045 (GRCm39) T981A probably damaging Het
N4bp2l1 C T 5: 150,496,246 (GRCm39) E123K probably damaging Het
Rbpj T C 5: 53,799,537 (GRCm39) probably benign Het
Ro60 C A 1: 143,646,620 (GRCm39) E42* probably null Het
Ruvbl1 T C 6: 88,462,779 (GRCm39) V301A possibly damaging Het
Sgip1 T C 4: 102,766,988 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,716,840 (GRCm39) I361T probably benign Het
Skint1 T A 4: 111,876,348 (GRCm39) Y90N probably damaging Het
Slc25a45 G A 19: 5,934,580 (GRCm39) V183I probably benign Het
Slco4c1 T A 1: 96,748,925 (GRCm39) H664L probably benign Het
Sult2a4 T A 7: 13,649,225 (GRCm39) I194L probably benign Het
Tecta C A 9: 42,299,570 (GRCm39) D173Y probably damaging Het
Tnrc18 T A 5: 142,745,459 (GRCm39) probably benign Het
Use1 T C 8: 71,821,823 (GRCm39) L169P possibly damaging Het
Zfp335 A G 2: 164,736,959 (GRCm39) L918P probably damaging Het
Zfp451 A T 1: 33,819,133 (GRCm39) probably null Het
Other mutations in Npr2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATTGCTCGAATGGCCCTAGC -3'
(R):5'- TCCTGCCAGAGCGTAATTATAAG -3'

Sequencing Primer
(F):5'- TCGAATGGCCCTAGCATTGC -3'
(R):5'- GCCAGAGCGTAATTATAAGAATCAAC -3'
Posted On 2014-11-11