Mutagenetix > Incidental Mutation

Incidental Mutation 'R1115:Ren1'

97105

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

039188-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133278412-133288058 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133284256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 207 (V207D)

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: V207D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092135
Gene: ENSMUSG00000070645
AA Change: V207D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

100% (34/34)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	A	11: 100,370,081 (GRCm39)	V994F	probably damaging	Het
Arfgap3	T	C	15: 83,214,741 (GRCm39)	T182A	probably benign	Het
Bcl2l14	T	C	6: 134,409,102 (GRCm39)		probably benign	Het
Cabin1	T	C	10: 75,553,511 (GRCm39)	M1183V	possibly damaging	Het
Ccr7	A	T	11: 99,036,103 (GRCm39)	I273K	possibly damaging	Het
Cd40	A	G	2: 164,912,681 (GRCm39)	M211V	possibly damaging	Het
Coro2b	T	G	9: 62,338,609 (GRCm39)	E208A	probably damaging	Het
Dennd5a	A	C	7: 109,517,968 (GRCm39)	M556R	probably damaging	Het
Efcab2	A	T	1: 178,265,062 (GRCm39)		probably benign	Het
Fastkd2	T	C	1: 63,787,114 (GRCm39)		probably benign	Het
Fbxw8	A	C	5: 118,215,636 (GRCm39)		probably benign	Het
Fhip1a	T	C	3: 85,629,802 (GRCm39)	E263G	probably benign	Het
Frem1	T	C	4: 82,939,007 (GRCm39)	D25G	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Ift52	A	G	2: 162,871,702 (GRCm39)	K178R	probably benign	Het
Kit	T	C	5: 75,810,192 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,137,859 (GRCm39)		probably null	Het
Mxra7	G	T	11: 116,701,696 (GRCm39)		probably benign	Het
Myt1	C	A	2: 181,453,024 (GRCm39)	S7*	probably null	Het
Nphs1	C	T	7: 30,180,803 (GRCm39)		probably benign	Het
Or10h28	C	T	17: 33,487,940 (GRCm39)	R81*	probably null	Het
Or1l8	C	A	2: 36,817,514 (GRCm39)	G204V	possibly damaging	Het
Osgin2	A	T	4: 15,998,085 (GRCm39)	D512E	possibly damaging	Het
Pde4b	T	A	4: 102,399,352 (GRCm39)		probably benign	Het
Rasef	G	T	4: 73,666,841 (GRCm39)	T146K	possibly damaging	Het
S100a8	A	G	3: 90,577,180 (GRCm39)	D59G	probably damaging	Het
Sdcbp	G	A	4: 6,377,143 (GRCm39)		probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slamf7	A	T	1: 171,466,751 (GRCm39)	D151E	probably benign	Het
Slco1b2	A	G	6: 141,628,980 (GRCm39)	M561V	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stard9	T	C	2: 120,523,331 (GRCm39)	I662T	probably benign	Het
Vwf	T	A	6: 125,632,028 (GRCm39)	V20D	unknown	Het
Znhit6	G	T	3: 145,300,440 (GRCm39)		probably null	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
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	133,281,944 (GRCm39)	missense	probably damaging	0.99
R1739:Ren1	UTSW	1	133,281,975 (GRCm39)	missense	probably benign	0.12
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
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'- TGGTATGAAAGCCAGAGCAGACCC -3'
(R):5'- GCACTAACCGGCTCAATGAGAGAAC -3'

Sequencing Primer
(F):5'- AGACCCCAGCCGAGGTTAG -3'
(R):5'- GGGACCAAATGCTTGACTTC -3'

Posted On

2014-01-05