Mutagenetix > Incidental Mutation

Incidental Mutation 'R5188:Ren1'

398001

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133278412-133288058 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 133278351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094556] [ENSMUST00000112287]

AlphaFold

P06281

Predicted Effect

probably benign
Transcript: ENSMUST00000094556

SMART Domains

Protein: ENSMUSP00000092135
Gene: ENSMUSG00000070645

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca12	T	A	1: 71,330,651 (GRCm39)	I1335F	probably benign	Het
Amigo3	C	A	9: 107,931,882 (GRCm39)	A435E	probably damaging	Het
Atr	T	A	9: 95,803,778 (GRCm39)	N1871K	probably benign	Het
Ctsw	C	T	19: 5,517,120 (GRCm39)	A71T	probably damaging	Het
Decr1	C	T	4: 15,924,270 (GRCm39)	V217M	probably damaging	Het
Golgb1	A	G	16: 36,738,827 (GRCm39)	T2389A	probably benign	Het
Gpr151	A	G	18: 42,711,820 (GRCm39)	M286T	probably benign	Het
Katnbl1	T	A	2: 112,240,499 (GRCm39)	I262N	probably damaging	Het
Lrp1	A	G	10: 127,443,821 (GRCm39)	C149R	probably damaging	Het
Mpc1	A	T	17: 8,515,215 (GRCm39)		probably benign	Het
Ndufv1	A	T	19: 4,059,988 (GRCm39)	N37K	probably damaging	Het
Or1n1b	T	A	2: 36,780,405 (GRCm39)	I152L	probably benign	Het
Or5af2	C	A	11: 58,708,146 (GRCm39)	T104K	probably damaging	Het
Or8g50	T	C	9: 39,648,531 (GRCm39)	V140A	probably benign	Het
Or8k1	T	G	2: 86,047,521 (GRCm39)	S178R	probably benign	Het
Pnpla7	C	A	2: 24,887,312 (GRCm39)	P52Q	probably benign	Het
Prh1	A	G	6: 132,548,670 (GRCm39)	Q59R	unknown	Het
Rnf148	T	C	6: 23,654,139 (GRCm39)	T286A	probably damaging	Het
Sdk1	T	C	5: 141,942,015 (GRCm39)		probably null	Het
Srp72	T	A	5: 77,122,598 (GRCm39)	S10T	possibly damaging	Het
Stk11	G	T	10: 79,962,113 (GRCm39)	G215V	probably damaging	Het
Stk4	T	C	2: 163,930,828 (GRCm39)	M143T	possibly damaging	Het
Supt20	T	A	3: 54,617,849 (GRCm39)	S318T	possibly damaging	Het
Tchh	G	C	3: 93,353,986 (GRCm39)	R1142P	unknown	Het
Vipas39	G	T	12: 87,301,021 (GRCm39)	R161S	probably benign	Het

Other mutations in Ren1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Posted On

2016-07-06