Incidental Mutation 'R0690:Npr2'
ID 61322
Institutional Source Beutler Lab
Gene Symbol Npr2
Ensembl Gene ENSMUSG00000028469
Gene Name natriuretic peptide receptor 2
Synonyms pwe, guanylyl cyclase-B, cn
MMRRC Submission 038875-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R0690 (G1)
Quality Score 123
Status Validated
Chromosome 4
Chromosomal Location 43631935-43651244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43646991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 708 (Y708F)
Ref Sequence ENSEMBL: ENSMUSP00000103506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000084646] [ENSMUST00000107870] [ENSMUST00000107874]
AlphaFold Q6VVW5
Predicted Effect probably damaging
Transcript: ENSMUST00000030191
AA Change: Y708F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469
AA Change: Y708F

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 probably damaging
Transcript: ENSMUST00000107874
AA Change: Y708F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469
AA Change: Y708F

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: Y273F
SMART Domains Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469
AA Change: Y273F

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: ENSMUST00000144418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151603
Predicted Effect probably benign
Transcript: ENSMUST00000149575
Meta Mutation Damage Score 0.7118 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (87/90)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,860,634 (GRCm39) probably benign Het
Abi3 T C 11: 95,724,460 (GRCm39) probably benign Het
Adam2 T C 14: 66,295,095 (GRCm39) N250S probably damaging Het
Agbl4 T A 4: 111,514,585 (GRCm39) I532K probably benign Het
Agrn T G 4: 156,258,910 (GRCm39) E905A probably damaging Het
Ahi1 A G 10: 20,846,742 (GRCm39) probably benign Het
Aifm2 A G 10: 61,562,231 (GRCm39) N89S probably benign Het
Arsj C T 3: 126,231,833 (GRCm39) T193I probably damaging Het
Ascc2 T A 11: 4,632,933 (GRCm39) V702E probably damaging Het
Avpr1b T C 1: 131,528,019 (GRCm39) S181P probably damaging Het
Bcl7a G A 5: 123,490,003 (GRCm39) V56I possibly damaging Het
Cd160 T A 3: 96,713,102 (GRCm39) D54V probably damaging Het
Celsr2 C A 3: 108,322,293 (GRCm39) R173M probably damaging Het
Cfap57 A G 4: 118,426,924 (GRCm39) probably benign Het
Cfap69 G A 5: 5,713,951 (GRCm39) T27I probably damaging Het
Chaf1b T C 16: 93,696,905 (GRCm39) probably benign Het
Cldn8 C T 16: 88,359,527 (GRCm39) V133M probably damaging Het
Col2a1 A T 15: 97,878,073 (GRCm39) V954E unknown Het
Col6a4 T C 9: 105,905,386 (GRCm39) probably benign Het
Col6a6 T C 9: 105,586,685 (GRCm39) M1779V probably benign Het
Coq8b A G 7: 26,941,674 (GRCm39) E253G probably benign Het
Ctse T C 1: 131,602,516 (GRCm39) probably benign Het
Cyp2c29 T A 19: 39,298,170 (GRCm39) N238K probably benign Het
Dcaf1 T A 9: 106,723,848 (GRCm39) probably benign Het
Dcc A T 18: 71,942,275 (GRCm39) probably benign Het
Dkk1 A G 19: 30,526,745 (GRCm39) F12S probably benign Het
Dnah6 A G 6: 73,106,457 (GRCm39) V1760A probably benign Het
Fam117b G A 1: 59,997,512 (GRCm39) S288N possibly damaging Het
Fam216a A T 5: 122,505,709 (GRCm39) M110K probably damaging Het
Frem3 T A 8: 81,340,581 (GRCm39) I958N possibly damaging Het
Gab1 T A 8: 81,526,745 (GRCm39) N118Y probably damaging Het
Gda T A 19: 21,387,251 (GRCm39) I251L probably benign Het
Gli2 C A 1: 118,772,190 (GRCm39) R505L probably damaging Het
Gm5093 A T 17: 46,750,664 (GRCm39) I121N possibly damaging Het
Gpnmb C T 6: 49,024,949 (GRCm39) S327L probably benign Het
Gpr156 T A 16: 37,812,503 (GRCm39) Y280N probably damaging Het
Gria4 A G 9: 4,427,071 (GRCm39) Y790H probably damaging Het
Guf1 C A 5: 69,723,695 (GRCm39) probably null Het
H6pd T C 4: 150,067,030 (GRCm39) E452G possibly damaging Het
Herc1 T A 9: 66,294,120 (GRCm39) Y487* probably null Het
Ifi30 T A 8: 71,217,593 (GRCm39) probably benign Het
Klf13 G A 7: 63,587,819 (GRCm39) A159V possibly damaging Het
Med11 T A 11: 70,344,052 (GRCm39) M124K possibly damaging Het
Myom3 A G 4: 135,515,737 (GRCm39) probably benign Het
Nat2 A T 8: 67,954,456 (GRCm39) I189F probably damaging Het
Nhlrc4 C G 17: 26,162,658 (GRCm39) G30R probably damaging Het
Nkx3-2 G A 5: 41,919,470 (GRCm39) R173C probably damaging Het
Nox3 T C 17: 3,745,839 (GRCm39) N23S probably damaging Het
Nsun2 A G 13: 69,777,661 (GRCm39) N409S probably benign Het
Nucb2 T C 7: 116,135,086 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,700 (GRCm39) F179L possibly damaging Het
Or5be3 A G 2: 86,864,226 (GRCm39) F113S probably damaging Het
Or8b12 T C 9: 37,657,513 (GRCm39) F28L probably benign Het
Orai2 A T 5: 136,190,453 (GRCm39) V52D probably damaging Het
Pcyox1 A T 6: 86,371,424 (GRCm39) M154K probably damaging Het
Pik3r4 C A 9: 105,531,175 (GRCm39) T492K possibly damaging Het
Pmpca T A 2: 26,281,109 (GRCm39) Y150N probably damaging Het
Ppp1r12b G T 1: 134,803,820 (GRCm39) S446R probably damaging Het
Ptpdc1 A G 13: 48,740,381 (GRCm39) I289T probably benign Het
Pyroxd2 A G 19: 42,716,081 (GRCm39) probably benign Het
Qrfpr G A 3: 36,243,708 (GRCm39) T131M probably damaging Het
Rab33b A G 3: 51,400,838 (GRCm39) Y104C probably damaging Het
Rad54l G T 4: 115,956,947 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,359 (GRCm39) probably null Het
Slc1a5 A T 7: 16,520,829 (GRCm39) M233L probably benign Het
Slc47a2 C T 11: 61,233,330 (GRCm39) V67I possibly damaging Het
Slco1a5 T A 6: 142,214,004 (GRCm39) Y39F probably benign Het
Slfn5 T C 11: 82,852,229 (GRCm39) V785A probably damaging Het
Sp6 C T 11: 96,912,370 (GRCm39) P28S possibly damaging Het
Sptbn5 A G 2: 119,893,156 (GRCm39) probably null Het
Sry ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG Y: 2,662,944 (GRCm39) probably benign Het
St8sia1 A G 6: 142,774,980 (GRCm39) W200R probably damaging Het
Stxbp1 C A 2: 32,690,707 (GRCm39) probably benign Het
Syne1 A G 10: 4,983,138 (GRCm39) probably benign Het
Thbs3 T A 3: 89,127,472 (GRCm39) I371N possibly damaging Het
Tll1 C T 8: 64,527,324 (GRCm39) S399N probably damaging Het
Tmem209 A C 6: 30,505,833 (GRCm39) C114G probably null Het
Tmem25 C T 9: 44,706,811 (GRCm39) probably benign Het
Tmem8b T C 4: 43,674,562 (GRCm39) I282T possibly damaging Het
Trdmt1 T A 2: 13,549,391 (GRCm39) H18L probably benign Het
Trim63 A G 4: 134,043,716 (GRCm39) T60A probably benign Het
Trpv2 T C 11: 62,475,502 (GRCm39) probably null Het
Ubr2 A T 17: 47,249,579 (GRCm39) I1591K probably damaging Het
Use1 A T 8: 71,819,709 (GRCm39) probably benign Het
Zfp850 A T 7: 27,684,642 (GRCm39) C35S 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
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
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'- ATCAACTGCTGAACCGGACGAC -3'
(R):5'- GCGAATGAAGCCCTTGATTTGCC -3'

Sequencing Primer
(F):5'- TATGCCAGTGAGACTGCTCC -3'
(R):5'- GAAGCCCTTGATTTGCCCAAAG -3'
Posted On 2013-07-30