Incidental Mutation 'R4584:Ren1'
ID 343889
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 041805-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4584 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 133278412-133288058 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133282546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 84 (Y84H)
Ref Sequence ENSEMBL: ENSMUSP00000092135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094556] [ENSMUST00000112287]
AlphaFold P06281
Predicted Effect probably damaging
Transcript: ENSMUST00000094556
AA Change: Y84H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092135
Gene: ENSMUSG00000070645
AA Change: Y84H

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: ENSMUST00000112287
Meta Mutation Damage Score 0.8941 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (86/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,886,756 (GRCm39) N343D probably damaging Het
9530002B09Rik T A 4: 122,594,979 (GRCm39) D78E possibly damaging Het
A2m C A 6: 121,634,365 (GRCm39) D632E probably benign Het
Alpk2 A G 18: 65,440,035 (GRCm39) S453P probably damaging Het
Birc2 A T 9: 7,833,675 (GRCm39) F269I probably damaging Het
Ccdc66 G A 14: 27,222,468 (GRCm39) P92S probably benign Het
Cdc34 T A 10: 79,523,869 (GRCm39) D108E possibly damaging Het
Cdk5rap2 A C 4: 70,184,997 (GRCm39) V1151G probably damaging Het
Cemip T C 7: 83,607,747 (GRCm39) K753R probably damaging Het
Cep295 A T 9: 15,246,095 (GRCm39) L787Q possibly damaging Het
Cideb T C 14: 55,995,727 (GRCm39) N8S probably benign Het
Dagla A G 19: 10,248,373 (GRCm39) Y96H probably damaging Het
Dapl1 C A 2: 59,335,086 (GRCm39) T80K possibly damaging Het
Ddx6 T C 9: 44,535,784 (GRCm39) V171A probably damaging Het
Dnah12 C A 14: 26,494,551 (GRCm39) T34K probably damaging Het
Dnhd1 T C 7: 105,327,256 (GRCm39) L735P probably damaging Het
Ep400 T A 5: 110,881,763 (GRCm39) probably benign Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2-T15 A T 17: 36,368,559 (GRCm39) M123K probably damaging Het
Ighv1-66 T A 12: 115,557,016 (GRCm39) Q22L possibly damaging Het
Igkv4-80 T C 6: 68,993,720 (GRCm39) Y57C probably damaging Het
Itpk1 G A 12: 102,536,416 (GRCm39) A410V possibly damaging Het
Itsn1 T A 16: 91,617,471 (GRCm39) probably benign Het
Kcnk3 G T 5: 30,745,730 (GRCm39) A24S probably damaging Het
Kif20a A G 18: 34,765,664 (GRCm39) Y887C probably damaging Het
Klf13 T C 7: 63,587,718 (GRCm39) T193A possibly damaging Het
Klhl9 G T 4: 88,640,144 (GRCm39) H32Q probably damaging Het
Kndc1 C G 7: 139,481,159 (GRCm39) P82A probably damaging Het
Llgl1 T A 11: 60,602,908 (GRCm39) L861Q probably damaging Het
Lpcat2 A G 8: 93,615,999 (GRCm39) E305G probably damaging Het
Mib2 C A 4: 155,741,744 (GRCm39) A293S probably damaging Het
Mtfr1 A G 3: 19,269,766 (GRCm39) E138G probably damaging Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Ninj1 T A 13: 49,347,442 (GRCm39) probably null Het
Nlgn2 A T 11: 69,725,104 (GRCm39) V54E possibly damaging Het
Nlrc5 A C 8: 95,203,903 (GRCm39) I668L probably damaging Het
Npy6r T A 18: 44,409,262 (GRCm39) C228S probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Nup107 T C 10: 117,602,273 (GRCm39) I513M probably benign Het
Oit3 T C 10: 59,261,284 (GRCm39) D461G probably damaging Het
Or2ab1 T A 11: 58,488,830 (GRCm39) F205I probably benign Het
Paxbp1 T C 16: 90,831,011 (GRCm39) D455G probably damaging Het
Pcdh7 A T 5: 57,878,625 (GRCm39) T727S probably damaging Het
Pex14 G A 4: 149,055,053 (GRCm39) A113V probably damaging Het
Phc3 A G 3: 31,020,031 (GRCm39) V23A possibly damaging Het
Plec T C 15: 76,115,406 (GRCm39) D56G possibly damaging Het
Plekha7 C A 7: 115,836,768 (GRCm39) probably benign Het
Prdm16 T C 4: 154,422,140 (GRCm39) E885G probably damaging Het
Prss1l T C 6: 41,373,701 (GRCm39) L188P probably benign Het
Psd2 A G 18: 36,145,881 (GRCm39) T762A probably benign Het
Psme4 T A 11: 30,784,318 (GRCm39) H964Q probably damaging Het
Rbak C T 5: 143,161,878 (GRCm39) V51I probably benign Het
Rbfa A G 18: 80,243,721 (GRCm39) L15P probably benign Het
Rps6ka5 A T 12: 100,547,577 (GRCm39) I311N probably damaging Het
Samd14 T A 11: 94,912,361 (GRCm39) probably null Het
Scaf4 T C 16: 90,026,403 (GRCm39) probably benign Het
Serpina12 A T 12: 104,004,611 (GRCm39) L7Q unknown Het
Serpinb9d A T 13: 33,384,599 (GRCm39) E192V probably damaging Het
Slc22a29 A T 19: 8,146,655 (GRCm39) F382L probably benign Het
Snta1 T A 2: 154,220,035 (GRCm39) D375V probably benign Het
Stat5b T A 11: 100,678,064 (GRCm39) Y683F probably damaging Het
Strip1 A T 3: 107,531,819 (GRCm39) Y257N probably benign Het
Sugp2 A G 8: 70,704,548 (GRCm39) H695R probably benign Het
Svep1 T A 4: 58,068,526 (GRCm39) R3087* probably null Het
Syngr2 T C 11: 117,703,947 (GRCm39) V138A probably damaging Het
Thra T C 11: 98,655,310 (GRCm39) F397L probably benign Het
Tmem45b T A 9: 31,339,951 (GRCm39) I149F probably damaging Het
Tmprss11f C T 5: 86,687,553 (GRCm39) probably null Het
Ush2a C T 1: 188,183,995 (GRCm39) T1433I probably benign Het
Vmn2r109 A T 17: 20,774,820 (GRCm39) Y178* probably null Het
Vmn2r84 T G 10: 130,226,582 (GRCm39) M419L probably benign Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp268 T A 4: 145,343,747 (GRCm39) probably null Het
Zfp276 A G 8: 123,995,145 (GRCm39) probably benign Het
Zfp568 T G 7: 29,697,617 (GRCm39) F100V probably benign Het
Zfp667 T A 7: 6,293,624 (GRCm39) D41E possibly damaging 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
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
R8093:Ren1 UTSW 1 133,287,812 (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'- TTAAGCTTCCATGCCCCAGTG -3'
(R):5'- TCCTCAGATCAGTGGTGTGGAG -3'

Sequencing Primer
(F):5'- AGTGAGCCTCCTGTATCCCAG -3'
(R):5'- CAGATCAGTGGTGTGGAGCTGAG -3'
Posted On 2015-09-24