Incidental Mutation 'R8093:Ren1'
ID 629970
Institutional Source Beutler Lab
Gene Symbol Ren1
Ensembl Gene ENSMUSG00000070645
Gene Name renin 1 structural
Synonyms Ren-1, Ren-A, Rn-1, Ren, Ren1d, Rnr, Ren1c
MMRRC Submission 067525-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8093 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 133278412-133288058 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133287812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 382 (I382N)
Ref Sequence ENSEMBL: ENSMUSP00000092135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094556] [ENSMUST00000135222]
AlphaFold P06281
Predicted Effect probably damaging
Transcript: ENSMUST00000094556
AA Change: I382N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092135
Gene: ENSMUSG00000070645
AA Change: I382N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:A1_Propeptide 29 54 1.2e-10 PFAM
Pfam:Asp 83 401 1.3e-120 PFAM
Pfam:TAXi_C 261 400 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135222
SMART Domains Protein: ENSMUSP00000114272
Gene: ENSMUSG00000070644

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:APH 84 331 1e-19 PFAM
Pfam:Choline_kinase 104 303 2.7e-64 PFAM
Pfam:EcKinase 163 313 2.8e-7 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to postnatal lethality, reduced plasma renin level, decreased mean arterial pressure, and kidney defects such as atrophy, altered juxtaglomerular cell and macula densa morphology, polyuria, decreased urine osmolality, and reduced glomerular filtration rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,669,368 (GRCm39) T745S possibly damaging Het
Abca12 T C 1: 71,319,552 (GRCm39) I1777V probably benign Het
Abhd6 T C 14: 8,028,353 (GRCm38) L28P probably damaging Het
Angpt1 T A 15: 42,339,873 (GRCm39) E279D probably benign Het
Arfgef2 A G 2: 166,736,577 (GRCm39) M1750V probably benign Het
Atrn T C 2: 130,817,908 (GRCm39) F821L probably benign Het
Cbx3 A G 6: 51,458,748 (GRCm39) E71G possibly damaging Het
Ccdc14 G A 16: 34,530,022 (GRCm39) A482T probably damaging Het
Cdh15 G T 8: 123,593,574 (GRCm39) A723S probably damaging Het
Cyp2a12 A G 7: 26,736,054 (GRCm39) S488G probably damaging Het
Ddx55 C A 5: 124,694,883 (GRCm39) H104N possibly damaging Het
Det1 G T 7: 78,493,257 (GRCm39) T249N possibly damaging Het
Disp3 A G 4: 148,354,973 (GRCm39) S348P possibly damaging Het
Dnah6 T G 6: 73,137,896 (GRCm39) N936T probably damaging Het
Dnajc11 A T 4: 152,054,357 (GRCm39) N188Y probably damaging Het
Etaa1 G A 11: 17,897,559 (GRCm39) T186I possibly damaging Het
Fhip1a T C 3: 85,580,111 (GRCm39) D698G probably benign Het
Ftl1-ps1 T A 13: 74,555,138 (GRCm39) V139E probably benign Het
Fzd10 A G 5: 128,679,303 (GRCm39) K341R probably benign Het
Galnt7 A G 8: 57,985,739 (GRCm39) Y544H probably benign Het
Gm21190 T A 5: 15,730,814 (GRCm39) I181F possibly damaging Het
Gm3604 T C 13: 62,517,363 (GRCm39) N332D probably damaging Het
Gm47996 G T 1: 151,086,055 (GRCm39) E45D possibly damaging Het
Gm5475 T A 15: 100,321,893 (GRCm39) L14Q unknown Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr182 T C 10: 127,586,783 (GRCm39) Y56C probably damaging Het
Gxylt2 T A 6: 100,710,188 (GRCm39) W110R probably damaging Het
Hivep3 G T 4: 119,952,632 (GRCm39) R316L possibly damaging Het
Hnf1a T C 5: 115,093,336 (GRCm39) T310A probably benign Het
Igkv6-32 A G 6: 70,051,547 (GRCm39) F8L probably benign Het
Kcnq1 A G 7: 142,916,389 (GRCm39) N550D probably damaging Het
Lrrc40 T G 3: 157,757,419 (GRCm39) Y249* probably null Het
Lrrc43 T A 5: 123,639,192 (GRCm39) M407K probably benign Het
Map2k6 A C 11: 110,373,411 (GRCm39) E21D probably benign Het
Mcoln1 T A 8: 3,558,740 (GRCm39) I246N possibly damaging Het
Msantd5f6 A T 4: 73,321,759 (GRCm39) V92E probably damaging Het
Myh2 A G 11: 67,079,536 (GRCm39) K998E probably damaging Het
Myo1b C T 1: 51,797,034 (GRCm39) probably null Het
Numbl T A 7: 26,980,461 (GRCm39) M481K possibly damaging Het
Nxpe4 G T 9: 48,307,852 (GRCm39) V319F probably benign Het
Pam C A 1: 97,813,357 (GRCm39) D358Y probably damaging Het
Papola A G 12: 105,775,836 (GRCm39) M251V probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Prelid2 A G 18: 42,065,700 (GRCm39) S112P probably damaging Het
Ptgfrn T C 3: 100,963,753 (GRCm39) T620A probably benign Het
Ptgfrn C T 3: 100,980,257 (GRCm39) R361Q probably benign Het
Pygm T A 19: 6,436,072 (GRCm39) M148K probably damaging Het
Rev1 T C 1: 38,114,097 (GRCm39) probably benign Het
Sdsl T C 5: 120,598,017 (GRCm39) K159E probably benign Het
Serinc4 T C 2: 121,285,434 (GRCm39) N203S possibly damaging Het
Slc12a2 A G 18: 58,012,423 (GRCm39) H182R probably benign Het
Sned1 C A 1: 93,202,387 (GRCm39) T677K possibly damaging Het
Ston2 G A 12: 91,710,460 (GRCm39) T3I probably damaging Het
Tnf T C 17: 35,420,072 (GRCm39) T77A probably benign Het
Trav6-2 G A 14: 52,905,126 (GRCm39) G49E probably benign Het
Trav7-4 A T 14: 53,699,140 (GRCm39) I96F probably damaging Het
Trmu T A 15: 85,766,921 (GRCm39) D43E probably benign Het
Uggt1 T A 1: 36,266,566 (GRCm39) Q136L probably damaging Het
Ugt1a5 T A 1: 88,094,304 (GRCm39) Y177* probably null Het
Vmn1r126 T C 7: 21,034,516 (GRCm39) R293G probably damaging Het
Vmn2r89 A G 14: 51,693,699 (GRCm39) I350V probably benign Het
Vps11 A T 9: 44,267,529 (GRCm39) L361Q probably damaging Het
Zfp467 A G 6: 48,420,366 (GRCm39) L5P possibly damaging Het
Zfp652 A G 11: 95,640,288 (GRCm39) H71R probably damaging Het
Zfp804b T C 5: 6,820,082 (GRCm39) K994E probably benign Het
Other mutations in Ren1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Ren1 APN 1 133,286,150 (GRCm39) missense probably benign 0.00
IGL02172:Ren1 APN 1 133,286,771 (GRCm39) missense possibly damaging 0.95
IGL02686:Ren1 APN 1 133,286,207 (GRCm39) missense possibly damaging 0.86
3_musketeers UTSW 1 133,282,546 (GRCm39) missense probably damaging 1.00
quieted UTSW 1 133,278,534 (GRCm39) nonsense probably null
snickers UTSW 1 133,284,256 (GRCm39) missense probably damaging 1.00
R0268:Ren1 UTSW 1 133,283,349 (GRCm39) missense possibly damaging 0.74
R1115:Ren1 UTSW 1 133,284,256 (GRCm39) missense probably damaging 1.00
R1728:Ren1 UTSW 1 133,281,944 (GRCm39) missense probably damaging 0.99
R1728:Ren1 UTSW 1 133,281,975 (GRCm39) missense probably benign 0.12
R1728:Ren1 UTSW 1 133,284,195 (GRCm39) missense probably benign 0.29
R1728:Ren1 UTSW 1 133,286,720 (GRCm39) splice site probably null
R1728:Ren1 UTSW 1 133,286,817 (GRCm39) missense probably benign
R1728:Ren1 UTSW 1 133,287,721 (GRCm39) missense probably benign
R1728:Ren1 UTSW 1 133,287,745 (GRCm39) missense probably benign 0.02
R1729:Ren1 UTSW 1 133,286,817 (GRCm39) missense probably benign
R1729:Ren1 UTSW 1 133,287,745 (GRCm39) missense probably benign 0.02
R1729:Ren1 UTSW 1 133,281,944 (GRCm39) missense probably damaging 0.99
R1729:Ren1 UTSW 1 133,281,975 (GRCm39) missense probably benign 0.12
R1730:Ren1 UTSW 1 133,284,195 (GRCm39) missense probably benign 0.29
R1730:Ren1 UTSW 1 133,286,817 (GRCm39) missense probably benign
R1730:Ren1 UTSW 1 133,287,721 (GRCm39) missense probably benign
R1730:Ren1 UTSW 1 133,287,745 (GRCm39) missense probably benign 0.02
R1730:Ren1 UTSW 1 133,281,944 (GRCm39) missense probably damaging 0.99
R1730:Ren1 UTSW 1 133,281,975 (GRCm39) missense probably benign 0.12
R1739:Ren1 UTSW 1 133,284,195 (GRCm39) missense probably benign 0.29
R1739:Ren1 UTSW 1 133,286,817 (GRCm39) missense probably benign
R1739:Ren1 UTSW 1 133,287,721 (GRCm39) missense probably benign
R1739:Ren1 UTSW 1 133,287,745 (GRCm39) missense probably benign 0.02
R1739:Ren1 UTSW 1 133,281,975 (GRCm39) missense probably benign 0.12
R1739:Ren1 UTSW 1 133,281,944 (GRCm39) missense probably damaging 0.99
R1762:Ren1 UTSW 1 133,286,817 (GRCm39) missense probably benign
R1762:Ren1 UTSW 1 133,287,745 (GRCm39) missense probably benign 0.02
R1762:Ren1 UTSW 1 133,281,944 (GRCm39) missense probably damaging 0.99
R1762:Ren1 UTSW 1 133,281,975 (GRCm39) missense probably benign 0.12
R1762:Ren1 UTSW 1 133,286,720 (GRCm39) splice site probably null
R1783:Ren1 UTSW 1 133,281,975 (GRCm39) missense probably benign 0.12
R1783:Ren1 UTSW 1 133,286,817 (GRCm39) missense probably benign
R1783:Ren1 UTSW 1 133,287,721 (GRCm39) missense probably benign
R1783:Ren1 UTSW 1 133,287,745 (GRCm39) missense probably benign 0.02
R1783:Ren1 UTSW 1 133,278,516 (GRCm39) splice site probably null
R1783:Ren1 UTSW 1 133,281,944 (GRCm39) missense probably damaging 0.99
R1784:Ren1 UTSW 1 133,281,944 (GRCm39) missense probably damaging 0.99
R1784:Ren1 UTSW 1 133,281,975 (GRCm39) missense probably benign 0.12
R1784:Ren1 UTSW 1 133,284,195 (GRCm39) missense probably benign 0.29
R1784:Ren1 UTSW 1 133,286,817 (GRCm39) missense probably benign
R1784:Ren1 UTSW 1 133,287,721 (GRCm39) missense probably benign
R1784:Ren1 UTSW 1 133,287,745 (GRCm39) missense probably benign 0.02
R1784:Ren1 UTSW 1 133,278,516 (GRCm39) splice site probably null
R1785:Ren1 UTSW 1 133,281,944 (GRCm39) missense probably damaging 0.99
R1785:Ren1 UTSW 1 133,278,516 (GRCm39) splice site probably null
R1785:Ren1 UTSW 1 133,287,745 (GRCm39) missense probably benign 0.02
R1785:Ren1 UTSW 1 133,287,721 (GRCm39) missense probably benign
R1785:Ren1 UTSW 1 133,286,817 (GRCm39) missense probably benign
R1785:Ren1 UTSW 1 133,281,975 (GRCm39) missense probably benign 0.12
R2049:Ren1 UTSW 1 133,278,516 (GRCm39) splice site probably null
R2130:Ren1 UTSW 1 133,278,516 (GRCm39) splice site probably null
R2131:Ren1 UTSW 1 133,278,516 (GRCm39) splice site probably null
R2133:Ren1 UTSW 1 133,286,720 (GRCm39) splice site probably null
R2141:Ren1 UTSW 1 133,278,516 (GRCm39) splice site probably null
R2142:Ren1 UTSW 1 133,278,516 (GRCm39) splice site probably null
R2518:Ren1 UTSW 1 133,287,862 (GRCm39) missense probably damaging 1.00
R4361:Ren1 UTSW 1 133,286,779 (GRCm39) missense probably benign
R4584:Ren1 UTSW 1 133,282,546 (GRCm39) missense probably damaging 1.00
R5188:Ren1 UTSW 1 133,278,351 (GRCm39) unclassified probably benign
R5806:Ren1 UTSW 1 133,283,249 (GRCm39) nonsense probably null
R7999:Ren1 UTSW 1 133,282,604 (GRCm39) missense probably damaging 1.00
R8175:Ren1 UTSW 1 133,282,007 (GRCm39) missense possibly damaging 0.94
R8259:Ren1 UTSW 1 133,278,534 (GRCm39) nonsense probably null
RF037:Ren1 UTSW 1 133,278,519 (GRCm39) unclassified probably benign
RF044:Ren1 UTSW 1 133,278,519 (GRCm39) unclassified probably benign
Z1177:Ren1 UTSW 1 133,278,488 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGCATACACTGAAGACTGTTGC -3'
(R):5'- TTCCTTAAAGCAGGGAAGGG -3'

Sequencing Primer
(F):5'- GAAGACTGTTGCTCCACTCTGG -3'
(R):5'- GCAAACACTCGTTAGGGTCTCTG -3'
Posted On 2020-06-30