Incidental Mutation 'R6364:Npr2'
ID 513392
Institutional Source Beutler Lab
Gene Symbol Npr2
Ensembl Gene ENSMUSG00000028469
Gene Name natriuretic peptide receptor 2
Synonyms pwe, guanylyl cyclase-B, cn
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.748) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 43631935-43651244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43643622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 550 (I550N)
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: I550N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: I550N

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 damaging
Transcript: ENSMUST00000107874
AA Change: I550N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: I550N

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 unknown
Transcript: ENSMUST00000123351
AA Change: I96N
SMART Domains Protein: ENSMUSP00000117761
Gene: ENSMUSG00000028469
AA Change: I96N

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: I115N
SMART Domains Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: I115N

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: ENSMUST00000145817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143160
Meta Mutation Damage Score 0.9481 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Cfi G A 3: 129,666,495 (GRCm39) S406N probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Evi5 G T 5: 107,989,979 (GRCm39) P80Q probably damaging Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Niban3 G A 8: 72,051,733 (GRCm39) G23S probably benign Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup88 C T 11: 70,838,612 (GRCm39) R468Q probably benign Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ptbp2 A T 3: 119,534,091 (GRCm39) N23K probably damaging Het
Ralgapb G T 2: 158,304,029 (GRCm39) G596V probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Scaf4 G A 16: 90,057,136 (GRCm39) Q72* probably null Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Shank2 A G 7: 143,964,146 (GRCm39) S795G probably benign Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H probably 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
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
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'- TTGCCAACACCGGTCACTTC -3'
(R):5'- CTGGGAATCAGTGATAAATAAGCCC -3'

Sequencing Primer
(F):5'- ACACCGGTCACTTCAAGGTG -3'
(R):5'- CCTTATCCCGTTAGCCAGGGAAC -3'
Posted On 2018-04-27