Incidental Mutation 'R1919:Npr2'
ID 212823
Institutional Source Beutler Lab
Gene Symbol Npr2
Ensembl Gene ENSMUSG00000028469
Gene Name natriuretic peptide receptor 2
Synonyms pwe, cn, guanylyl cyclase-B
MMRRC Submission 039937-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.782) question?
Stock # R1919 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 43631935-43651244 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43640578 bp (GRCm38)
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

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: Y344N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: Y344N

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 probably benign
Transcript: ENSMUST00000128549
SMART Domains Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,067,270 (GRCm38) E740G probably damaging Het
4930474N05Rik G T 14: 36,095,457 (GRCm38) V105F possibly damaging Het
4932438A13Rik A G 3: 37,006,983 (GRCm38) probably null Het
Actr10 A G 12: 70,942,330 (GRCm38) I74M probably benign Het
Aen T C 7: 78,905,912 (GRCm38) Y108H probably damaging Het
Afm A T 5: 90,524,920 (GRCm38) K205* probably null Het
Ankrd27 T A 7: 35,632,985 (GRCm38) S846T probably benign Het
Ano3 A G 2: 110,885,007 (GRCm38) S29P probably benign Het
Apaf1 C T 10: 91,077,614 (GRCm38) W138* probably null Het
Arfgef1 C T 1: 10,199,878 (GRCm38) A349T probably benign Het
Arhgef4 A G 1: 34,811,140 (GRCm38) Q1798R probably damaging Het
Astn1 G A 1: 158,509,971 (GRCm38) V416I probably damaging Het
Atxn2l G A 7: 126,493,168 (GRCm38) T70I probably damaging Het
Auh G A 13: 52,835,496 (GRCm38) P308L probably benign Het
Bspry T A 4: 62,494,797 (GRCm38) C256S probably damaging Het
C3 C A 17: 57,220,135 (GRCm38) W771C probably damaging Het
Camkv A G 9: 107,947,088 (GRCm38) D233G possibly damaging Het
Catsperd T A 17: 56,635,548 (GRCm38) V109E probably damaging Het
Cd101 A G 3: 101,018,917 (GRCm38) L162P probably damaging Het
Cdr2l A G 11: 115,392,777 (GRCm38) T154A probably damaging Het
Clca3a2 G C 3: 144,810,696 (GRCm38) Q380E probably benign Het
Col6a3 T C 1: 90,822,359 (GRCm38) N251S possibly damaging Het
Cttnbp2nl A G 3: 105,011,278 (GRCm38) V82A possibly damaging Het
Cux1 G A 5: 136,363,319 (GRCm38) Q194* probably null Het
Daam2 T C 17: 49,485,457 (GRCm38) E361G probably benign Het
Dcaf17 A T 2: 71,078,172 (GRCm38) probably null Het
Dnaic1 T C 4: 41,570,020 (GRCm38) probably null Het
Eml5 T C 12: 98,798,839 (GRCm38) Y1617C probably damaging Het
Epb41l4b T C 4: 57,040,993 (GRCm38) E490G probably damaging Het
Epha7 T C 4: 28,963,969 (GRCm38) M988T possibly damaging Het
Fancm T C 12: 65,105,520 (GRCm38) C917R possibly damaging Het
Fnip1 C T 11: 54,480,684 (GRCm38) T177I probably damaging Het
Gm12169 A G 11: 46,528,531 (GRCm38) D58G possibly damaging Het
Gm3604 G T 13: 62,369,942 (GRCm38) H201N probably benign Het
Gnpda1 T C 18: 38,333,190 (GRCm38) probably null Het
Gpatch8 A G 11: 102,508,142 (GRCm38) probably null Het
H2-M3 T C 17: 37,271,189 (GRCm38) Y179H possibly damaging Het
H2-Q10 C A 17: 35,470,488 (GRCm38) S62R probably damaging Het
Hipk2 G A 6: 38,818,984 (GRCm38) R117* probably null Het
Hrg A T 16: 22,954,457 (GRCm38) Q113H probably damaging Het
Kcnj16 T C 11: 111,024,953 (GRCm38) V147A possibly damaging Het
Kif1a T C 1: 93,019,031 (GRCm38) I1650V possibly damaging Het
Kmt2a C T 9: 44,820,345 (GRCm38) probably benign Het
Krt90 A T 15: 101,557,230 (GRCm38) Y319N probably damaging Het
Lipo4 T C 19: 33,499,271 (GRCm38) N359S possibly damaging Het
Lrp1b G T 2: 41,728,729 (GRCm38) T225K probably benign Het
Map1a C T 2: 121,307,012 (GRCm38) P2532S probably damaging Het
Mmrn2 A G 14: 34,397,643 (GRCm38) D193G probably benign Het
Mpped2 T A 2: 106,867,032 (GRCm38) I284N probably damaging Het
Msh6 A G 17: 87,985,125 (GRCm38) H436R probably benign Het
Mterf3 A T 13: 66,930,062 (GRCm38) S48T probably damaging Het
Muc5b T C 7: 141,846,031 (GRCm38) F414L unknown Het
Mylk4 A T 13: 32,724,853 (GRCm38) D90E probably benign Het
Nploc4 A G 11: 120,404,229 (GRCm38) Y420H probably damaging Het
Nsun5 A G 5: 135,375,598 (GRCm38) T397A probably benign Het
Ntsr2 A T 12: 16,654,110 (GRCm38) Q204L probably damaging Het
Nwd2 T A 5: 63,806,180 (GRCm38) Y1036N probably damaging Het
Oacyl T C 18: 65,710,547 (GRCm38) V105A possibly damaging Het
Olfr791 T A 10: 129,527,049 (GRCm38) V274D probably damaging Het
Parp3 T A 9: 106,475,117 (GRCm38) Q70L possibly damaging Het
Parp4 T C 14: 56,624,017 (GRCm38) S936P probably damaging Het
Pdzd3 T C 9: 44,250,303 (GRCm38) D93G possibly damaging Het
Phkb A G 8: 85,922,161 (GRCm38) E202G probably benign Het
Pink1 T C 4: 138,314,020 (GRCm38) N530S probably benign Het
Pou3f2 T C 4: 22,487,119 (GRCm38) D338G probably damaging Het
Prss8 G T 7: 127,929,858 (GRCm38) L9I probably benign Het
Ptpn22 G A 3: 103,876,738 (GRCm38) probably null Het
Rad54b A C 4: 11,601,693 (GRCm38) N416T probably damaging Het
Rasef A G 4: 73,744,114 (GRCm38) S200P possibly damaging Het
Rb1 T A 14: 73,212,990 (GRCm38) K645* probably null Het
Robo2 C T 16: 73,899,154 (GRCm38) G1367D probably benign Het
Rp1 A G 1: 4,352,671 (GRCm38) V52A probably damaging Het
Samd13 T C 3: 146,662,712 (GRCm38) T23A probably benign Het
Scn7a T C 2: 66,699,973 (GRCm38) H676R probably damaging Het
Serpinb6b A G 13: 32,978,240 (GRCm38) I222V probably benign Het
Slc2a8 T C 2: 32,980,079 (GRCm38) Y150C probably damaging Het
Slc7a6os C A 8: 106,210,564 (GRCm38) R88L probably damaging Het
Slc8a2 A G 7: 16,152,920 (GRCm38) I657V probably benign Het
Slit2 C A 5: 48,191,016 (GRCm38) probably benign Het
Spire2 A G 8: 123,363,071 (GRCm38) D447G probably benign Het
Sptlc3 A G 2: 139,566,675 (GRCm38) N237D possibly damaging Het
Stk3 G A 15: 35,073,217 (GRCm38) T119I probably damaging Het
Suv39h2 G A 2: 3,464,316 (GRCm38) T334I probably damaging Het
Syt5 G T 7: 4,540,279 (GRCm38) T327N probably damaging Het
Tcof1 T C 18: 60,816,084 (GRCm38) D1253G possibly damaging Het
Tnks A T 8: 34,875,232 (GRCm38) V388D probably damaging Het
Ugt2b1 T C 5: 86,926,000 (GRCm38) T167A probably benign Het
Usp40 G A 1: 87,995,842 (GRCm38) R236C possibly damaging Het
Utrn T C 10: 12,455,480 (GRCm38) D2904G probably benign Het
Vmn1r226 T C 17: 20,687,580 (GRCm38) S25P probably damaging Het
Vmn2r23 T C 6: 123,713,010 (GRCm38) S282P possibly damaging Het
Vps45 T C 3: 96,046,440 (GRCm38) E200G probably benign Het
Wnt7b T A 15: 85,559,080 (GRCm38) I41F probably damaging Het
Zmym6 T A 4: 127,103,414 (GRCm38) N275K probably damaging Het
Other mutations in Npr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Npr2 APN 4 43,641,612 (GRCm38) missense possibly damaging 0.51
IGL01116:Npr2 APN 4 43,640,248 (GRCm38) missense probably damaging 0.99
IGL01447:Npr2 APN 4 43,640,554 (GRCm38) missense possibly damaging 0.93
IGL02412:Npr2 APN 4 43,647,005 (GRCm38) missense probably damaging 0.97
IGL02449:Npr2 APN 4 43,646,641 (GRCm38) missense probably damaging 1.00
IGL03120:Npr2 APN 4 43,643,133 (GRCm38) missense probably damaging 0.99
IGL03351:Npr2 APN 4 43,640,652 (GRCm38) missense probably benign 0.36
Anterior UTSW 4 43,643,622 (GRCm38) missense probably damaging 1.00
palmar UTSW 4 43,647,553 (GRCm38) missense probably damaging 1.00
Plantar UTSW 4 43,640,597 (GRCm38) missense probably damaging 1.00
Ventral UTSW 4 43,641,254 (GRCm38) missense probably damaging 1.00
R0066:Npr2 UTSW 4 43,632,329 (GRCm38) missense probably benign 0.00
R0201:Npr2 UTSW 4 43,641,617 (GRCm38) missense probably damaging 0.98
R0309:Npr2 UTSW 4 43,640,904 (GRCm38) unclassified probably benign
R0437:Npr2 UTSW 4 43,648,082 (GRCm38) missense probably damaging 1.00
R0440:Npr2 UTSW 4 43,650,315 (GRCm38) missense probably damaging 0.99
R0464:Npr2 UTSW 4 43,640,597 (GRCm38) splice site probably null
R0511:Npr2 UTSW 4 43,632,801 (GRCm38) missense probably benign 0.00
R0576:Npr2 UTSW 4 43,640,947 (GRCm38) missense probably benign 0.01
R0630:Npr2 UTSW 4 43,641,219 (GRCm38) missense probably benign 0.18
R0690:Npr2 UTSW 4 43,646,991 (GRCm38) missense probably damaging 0.98
R1079:Npr2 UTSW 4 43,643,654 (GRCm38) missense probably damaging 1.00
R1140:Npr2 UTSW 4 43,648,353 (GRCm38) missense possibly damaging 0.87
R1171:Npr2 UTSW 4 43,647,260 (GRCm38) missense possibly damaging 0.52
R1741:Npr2 UTSW 4 43,643,350 (GRCm38) missense probably damaging 1.00
R1848:Npr2 UTSW 4 43,632,384 (GRCm38) missense probably benign
R1864:Npr2 UTSW 4 43,641,258 (GRCm38) missense probably benign 0.30
R2054:Npr2 UTSW 4 43,646,560 (GRCm38) missense probably damaging 0.99
R2106:Npr2 UTSW 4 43,644,329 (GRCm38) missense probably damaging 1.00
R2143:Npr2 UTSW 4 43,648,166 (GRCm38) missense probably damaging 1.00
R2306:Npr2 UTSW 4 43,633,609 (GRCm38) missense probably damaging 1.00
R2372:Npr2 UTSW 4 43,650,432 (GRCm38) missense probably damaging 1.00
R2889:Npr2 UTSW 4 43,641,600 (GRCm38) missense probably benign 0.26
R3076:Npr2 UTSW 4 43,640,182 (GRCm38) missense probably damaging 1.00
R3078:Npr2 UTSW 4 43,640,182 (GRCm38) missense probably damaging 1.00
R3711:Npr2 UTSW 4 43,643,378 (GRCm38) missense probably benign 0.00
R3730:Npr2 UTSW 4 43,640,999 (GRCm38) missense possibly damaging 0.93
R4301:Npr2 UTSW 4 43,641,332 (GRCm38) critical splice donor site probably null
R4352:Npr2 UTSW 4 43,646,592 (GRCm38) missense probably damaging 1.00
R4412:Npr2 UTSW 4 43,644,150 (GRCm38) missense probably damaging 0.99
R4583:Npr2 UTSW 4 43,633,522 (GRCm38) splice site probably null
R4593:Npr2 UTSW 4 43,647,323 (GRCm38) unclassified probably benign
R5042:Npr2 UTSW 4 43,647,002 (GRCm38) missense probably damaging 1.00
R5213:Npr2 UTSW 4 43,640,673 (GRCm38) critical splice donor site probably null
R5546:Npr2 UTSW 4 43,650,150 (GRCm38) missense probably damaging 1.00
R5784:Npr2 UTSW 4 43,632,801 (GRCm38) missense probably benign 0.00
R5787:Npr2 UTSW 4 43,633,593 (GRCm38) missense possibly damaging 0.69
R6364:Npr2 UTSW 4 43,643,622 (GRCm38) missense probably damaging 1.00
R6925:Npr2 UTSW 4 43,647,553 (GRCm38) missense probably damaging 1.00
R6949:Npr2 UTSW 4 43,640,597 (GRCm38) missense probably damaging 1.00
R7380:Npr2 UTSW 4 43,641,254 (GRCm38) missense probably damaging 1.00
R7432:Npr2 UTSW 4 43,647,155 (GRCm38) missense probably damaging 0.96
R7500:Npr2 UTSW 4 43,650,415 (GRCm38) missense probably damaging 1.00
R8235:Npr2 UTSW 4 43,641,603 (GRCm38) missense probably benign 0.09
R8292:Npr2 UTSW 4 43,643,086 (GRCm38) missense possibly damaging 0.70
R9310:Npr2 UTSW 4 43,632,404 (GRCm38) missense probably benign 0.01
R9684:Npr2 UTSW 4 43,632,491 (GRCm38) missense probably damaging 1.00
R9746:Npr2 UTSW 4 43,633,527 (GRCm38) missense possibly damaging 0.64
Z1176:Npr2 UTSW 4 43,650,720 (GRCm38) 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