Incidental Mutation 'R1171:Npr2'
ID 99383
Institutional Source Beutler Lab
Gene Symbol Npr2
Ensembl Gene ENSMUSG00000028469
Gene Name natriuretic peptide receptor 2
Synonyms pwe, guanylyl cyclase-B, cn
MMRRC Submission 039244-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R1171 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 43631935-43651244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43647260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 772 (D772G)
Ref Sequence ENSEMBL: ENSMUSP00000103506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000084646] [ENSMUST00000107870] [ENSMUST00000107874]
AlphaFold Q6VVW5
Predicted Effect probably benign
Transcript: ENSMUST00000030191
AA Change: D772G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: D772G

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: 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 possibly damaging
Transcript: ENSMUST00000107874
AA Change: D772G

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: D772G

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 probably benign
Transcript: ENSMUST00000123351
SMART Domains Protein: ENSMUSP00000117761
Gene: ENSMUSG00000028469

DomainStartEndE-ValueType
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: D337G
SMART Domains Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: D337G

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: ENSMUST00000143160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151603
Predicted Effect probably benign
Transcript: ENSMUST00000149575
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,140,075 (GRCm39) E492V probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atr T C 9: 95,789,376 (GRCm39) F1511L probably damaging Het
Bdkrb2 G T 12: 105,558,416 (GRCm39) R219L probably benign Het
Bhmt2 A T 13: 93,798,837 (GRCm39) M328K probably benign Het
Btbd3 A G 2: 138,125,881 (GRCm39) D286G probably benign Het
Bub1b T G 2: 118,437,167 (GRCm39) L122V probably benign Het
Caml T C 13: 55,772,820 (GRCm39) S155P probably damaging Het
Cfap43 T C 19: 47,824,150 (GRCm39) K74E probably benign Het
Chst4 A G 8: 110,757,255 (GRCm39) S120P probably damaging Het
Col11a1 A G 3: 113,860,213 (GRCm39) D213G unknown Het
Cripto C A 9: 110,772,235 (GRCm39) V54L probably benign Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Cxcl10 CAC CACTAAC 5: 92,495,945 (GRCm39) probably null Het
Cyp26b1 A T 6: 84,553,653 (GRCm39) I167N possibly damaging Het
Dchs1 A G 7: 105,406,921 (GRCm39) S2195P probably benign Het
Ddx25 T A 9: 35,458,142 (GRCm39) K326* probably null Het
Dip2c A T 13: 9,543,162 (GRCm39) Y36F possibly damaging Het
Dock2 T C 11: 34,586,068 (GRCm39) D538G probably damaging Het
E4f1 C T 17: 24,670,523 (GRCm39) D55N probably damaging Het
Emp1 G T 6: 135,358,077 (GRCm39) W141L probably damaging Het
Faim2 T A 15: 99,398,135 (GRCm39) H271L probably benign Het
Fbxw9 T C 8: 85,792,707 (GRCm39) M352T possibly damaging Het
Fcrl2 A T 3: 87,164,167 (GRCm39) F321I probably benign Het
Frzb C T 2: 80,268,834 (GRCm39) probably null Het
Gal3st1 G T 11: 3,948,931 (GRCm39) K379N probably damaging Het
Gm5519 G A 19: 33,800,372 (GRCm39) C22Y possibly damaging Het
Gpn3 T C 5: 122,516,583 (GRCm39) F71L probably benign Het
H2-M9 A G 17: 36,952,545 (GRCm39) V167A probably benign Het
Hars1 A G 18: 36,904,467 (GRCm39) F182L possibly damaging Het
Hid1 T C 11: 115,243,543 (GRCm39) T502A probably benign Het
Hipk3 G T 2: 104,302,021 (GRCm39) T57K probably benign Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itpk1 G A 12: 102,572,378 (GRCm39) L112F probably damaging Het
Klk1b9 T A 7: 43,443,817 (GRCm39) D110E possibly damaging Het
Lemd3 A T 10: 120,785,246 (GRCm39) M535K possibly damaging Het
Lipg A T 18: 75,078,894 (GRCm39) S453T possibly damaging Het
Lrrc75a A T 11: 62,500,069 (GRCm39) W150R probably damaging Het
Lyg1 T C 1: 37,986,305 (GRCm39) E143G probably damaging Het
Map3k1 A G 13: 111,892,177 (GRCm39) V1026A probably benign Het
Mgat3 T A 15: 80,095,838 (GRCm39) F222I probably benign Het
Mindy4 A T 6: 55,232,601 (GRCm39) N348I possibly damaging Het
Ms4a20 T C 19: 11,089,741 (GRCm39) Y48C probably damaging Het
Myo1b A C 1: 51,817,684 (GRCm39) F532C probably damaging Het
Naif1 T A 2: 32,342,558 (GRCm39) N36K probably damaging Het
Nkpd1 C A 7: 19,258,012 (GRCm39) A597E possibly damaging Het
Or52n4 T G 7: 104,294,204 (GRCm39) D123A probably damaging Het
Or6a2 T C 7: 106,600,791 (GRCm39) N92S probably benign Het
Pcolce2 A T 9: 95,576,793 (GRCm39) M355L probably benign Het
Pdgfra A T 5: 75,334,108 (GRCm39) I394F probably damaging Het
Pdzrn3 G A 6: 101,127,838 (GRCm39) R943C probably damaging Het
Pml A G 9: 58,141,821 (GRCm39) V337A probably damaging Het
Pnpla2 T A 7: 141,038,794 (GRCm39) M321K probably benign Het
Poln A T 5: 34,261,284 (GRCm39) N546K probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prss28 T A 17: 25,529,029 (GRCm39) F123L possibly damaging Het
Psg18 A G 7: 18,080,004 (GRCm39) V399A probably benign Het
Rab5a T C 17: 53,813,443 (GRCm39) C212R probably damaging Het
Ranbp6 A T 19: 29,789,679 (GRCm39) D224E probably benign Het
Recql4 T C 15: 76,588,239 (GRCm39) I1104M possibly damaging Het
Rev1 A T 1: 38,127,581 (GRCm39) N226K possibly damaging Het
Rhbdl3 T A 11: 80,244,418 (GRCm39) V375E possibly damaging Het
Senp6 T A 9: 80,024,007 (GRCm39) N423K possibly damaging Het
Sertad2 C G 11: 20,598,091 (GRCm39) L96V probably benign Het
Slc33a1 T A 3: 63,861,315 (GRCm39) T296S probably benign Het
Smurf2 G A 11: 106,743,444 (GRCm39) P188S possibly damaging Het
Spta1 T A 1: 174,039,180 (GRCm39) Y1174* probably null Het
Stra6l A T 4: 45,864,982 (GRCm39) T103S probably benign Het
Swt1 C T 1: 151,281,272 (GRCm39) A352T probably damaging Het
Thoc2l T C 5: 104,668,769 (GRCm39) V1097A possibly damaging Het
Tigd2 T A 6: 59,188,361 (GRCm39) N409K possibly damaging Het
Tlr6 G T 5: 65,112,593 (GRCm39) H105N probably benign Het
Tmprss9 A C 10: 80,715,692 (GRCm39) T15P possibly damaging Het
Tnik C T 3: 28,587,089 (GRCm39) T120M probably damaging Het
Tnr T A 1: 159,685,780 (GRCm39) I337N probably damaging Het
Top3a A G 11: 60,641,419 (GRCm39) Y422H probably benign Het
Trim67 A G 8: 125,555,820 (GRCm39) N768S probably damaging Het
Ttn A G 2: 76,536,310 (GRCm39) V35016A probably benign Het
Utrn A C 10: 12,357,052 (GRCm39) S312R probably damaging Het
Vdac2 A G 14: 21,887,879 (GRCm39) Y62C probably damaging Het
Vwa5b2 A G 16: 20,423,734 (GRCm39) T1216A probably benign Het
Wfdc16 T C 2: 164,480,403 (GRCm39) K31E possibly damaging Het
Wtip C T 7: 33,824,921 (GRCm39) C221Y probably damaging Het
Xrn1 A G 9: 95,873,064 (GRCm39) D640G possibly damaging Het
Zdhhc5 T C 2: 84,522,685 (GRCm39) R293G probably benign Het
Zfp536 T C 7: 37,269,059 (GRCm39) D119G probably damaging Het
Zfp81 T C 17: 33,554,254 (GRCm39) T187A probably benign Het
Zfp810 C T 9: 22,190,122 (GRCm39) G262D possibly damaging Het
Zfp963 A C 8: 70,195,669 (GRCm39) I203M possibly damaging Het
Zfpm2 T C 15: 40,965,075 (GRCm39) M520T probably damaging Het
Zswim8 G A 14: 20,763,181 (GRCm39) R360Q possibly damaging Het
Zwilch T A 9: 64,065,999 (GRCm39) H254L possibly damaging 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
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
Posted On 2014-01-15