Mutagenetix > Incidental Mutation

Incidental Mutation 'R2131:Ren1'

228010

Institutional Source

Beutler Lab

Gene Symbol

Ren1

Ensembl Gene

ENSMUSG00000070645

Gene Name

renin 1 structural

Synonyms

Ren-1, Ren1d, Ren1c, Ren, Ren-A, Rnr, Rn-1

MMRRC Submission

040134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2131 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

133350510-133360325 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 133350778 bp (GRCm38)

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
AA Change: R25G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000092135
Gene: ENSMUSG00000070645
AA Change: R25G

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 null
Transcript: ENSMUST00000112287

Meta Mutation Damage Score

0.2252

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
4931408C20Rik	T	C	1: 26,685,854	R82G	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Acvr2b	A	G	9: 119,432,808	R437G	probably damaging	Het
Adamtsl3	C	A	7: 82,578,594	A1329E	probably damaging	Het
Adgrl2	T	C	3: 148,890,488	I71V	probably damaging	Het
Adra1a	A	T	14: 66,727,532	I324F	possibly damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Ampd1	G	T	3: 103,094,878		probably null	Het
Ankrd16	T	A	2: 11,783,695	D211E	probably damaging	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Apc	C	A	18: 34,312,045	Q665K	possibly damaging	Het
Arap2	T	C	5: 62,677,958	N747S	probably damaging	Het
Arsk	A	T	13: 76,091,812	C47*	probably null	Het
Atp8b5	T	A	4: 43,370,726	F1001I	probably benign	Het
Bap1	T	A	14: 31,258,331	Y645*	probably null	Het
Brca2	A	G	5: 150,557,129	Y2760C	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,036,306		probably benign	Het
Cdkn2c	A	C	4: 109,665,063	N28K	probably null	Het
Celsr1	T	A	15: 85,963,223	I1438F	probably benign	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Cldn1	G	C	16: 26,371,550	A26G	probably damaging	Het
Col20a1	T	A	2: 180,992,573	F110L	probably damaging	Het
Creg2	T	C	1: 39,624,978	N204S	probably benign	Het
Cx3cl1	C	A	8: 94,779,573	Q69K	probably benign	Het
Cyfip2	T	C	11: 46,286,131	E74G	possibly damaging	Het
Cyp2g1	A	T	7: 26,820,710	I456F	probably damaging	Het
Dapk1	A	G	13: 60,729,531	E528G	possibly damaging	Het
Dapk1	T	A	13: 60,761,667	W1365R	possibly damaging	Het
Dbt	T	A	3: 116,539,124	D16E	probably damaging	Het
Depdc5	T	A	5: 32,990,781	L1469*	probably null	Het
Dnah3	T	A	7: 119,967,759	T2415S	possibly damaging	Het
Dnmbp	A	G	19: 43,854,311	L1210S	probably damaging	Het
Dpyd	T	C	3: 118,674,568	V77A	probably benign	Het
Eps15l1	A	T	8: 72,386,868	V260D	probably benign	Het
Eya1	A	G	1: 14,170,974	V573A	probably benign	Het
Fam171b	T	A	2: 83,879,858	S625T	probably damaging	Het
Fam186a	T	C	15: 99,933,676		probably benign	Het
Fam208a	A	G	14: 27,476,614	N1301S	possibly damaging	Het
Gabra4	G	T	5: 71,641,224	D137E	probably benign	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm43302	T	C	5: 105,274,744	D474G	probably damaging	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gpr19	T	C	6: 134,870,442	M1V	probably null	Het
Hnf4a	T	A	2: 163,547,418	N29K	probably benign	Het
Htt	A	G	5: 34,877,109	R1975G	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Il4i1	G	A	7: 44,840,070	V420M	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jmjd4	A	T	11: 59,454,955	H287L	probably damaging	Het
Kcnj13	A	G	1: 87,386,534	V322A	probably benign	Het
Kdm5d	T	C	Y: 941,483	L1228P	probably benign	Het
Klra3	A	G	6: 130,335,775	S9P	probably benign	Het
Ldhd	C	T	8: 111,628,537		probably null	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lmo7	A	T	14: 101,900,238	D670V	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lrp5	T	C	19: 3,622,708	T534A	possibly damaging	Het
Lrrc24	A	T	15: 76,715,581	F453I	possibly damaging	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mcpt8	T	C	14: 56,082,283	I237V	probably damaging	Het
Med4	A	G	14: 73,517,996	N248S	possibly damaging	Het
Mest	C	T	6: 30,745,885	L269F	probably damaging	Het
Mib2	C	T	4: 155,655,238		probably null	Het
Mki67	T	A	7: 135,704,241		probably null	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Nbr1	T	A	11: 101,566,191		probably null	Het
Ncapd3	T	G	9: 27,083,346	V1174G	probably damaging	Het
Nyap1	A	C	5: 137,733,681		probably null	Het
Olfml3	T	A	3: 103,735,869	M399L	probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr775	T	C	10: 129,251,074	F180S	probably benign	Het
Oosp1	T	C	19: 11,690,950	D23G	probably damaging	Het
Optc	A	T	1: 133,903,796		probably null	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Otog	A	T	7: 46,250,100	N275I	probably damaging	Het
Pcdhb14	C	A	18: 37,447,870	Q10K	probably benign	Het
Pcx	T	C	19: 4,602,551	F189L	probably benign	Het
Pde6b	A	G	5: 108,428,203	D718G	probably damaging	Het
Pklr	C	A	3: 89,142,660	P314Q	probably damaging	Het
Plcb1	T	A	2: 135,325,667	Y460*	probably null	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Plekho1	A	G	3: 95,989,117	S347P	probably damaging	Het
Plxna2	G	A	1: 194,644,750	D331N	probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Prkra	A	T	2: 76,647,136	I75K	probably damaging	Het
Ptpn11	G	A	5: 121,172,026	A31V	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Rbm12	A	T	2: 156,095,510	C947*	probably null	Het
Sarm1	A	T	11: 78,475,307	C649S	probably benign	Het
Sept12	T	A	16: 4,991,779	Q223L	probably damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Slc22a21	A	T	11: 53,979,733	L42Q	probably damaging	Het
Slc44a1	GCCC	GCCCCCCC	4: 53,563,246		probably null	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Sort1	T	A	3: 108,351,686	F678Y	probably benign	Het
Spag6	T	A	2: 18,733,097	C259*	probably null	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Stk24	A	T	14: 121,302,211	I191N	probably damaging	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tacc2	T	A	7: 130,621,857	S91T	possibly damaging	Het
Tacr3	T	C	3: 134,932,180	V366A	probably benign	Het
Tbccd1	A	G	16: 22,841,989	S26P	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tor1aip2	A	G	1: 156,065,349	Y467C	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttc9b	T	A	7: 27,654,349		probably null	Het
Tti1	T	C	2: 158,000,743	R789G	probably benign	Het
Ttn	A	T	2: 76,832,217		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2cbp	A	T	9: 86,372,487		probably null	Het
Vav2	C	A	2: 27,299,396	R176L	possibly damaging	Het
Wdr27	T	A	17: 14,928,332	D133V	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp467	A	C	6: 48,442,661	S38A	probably damaging	Het

Other mutations in Ren1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Ren1	APN	1	133358412	missense	probably benign	0.00
IGL02172:Ren1	APN	1	133359033	missense	possibly damaging	0.95
IGL02686:Ren1	APN	1	133358469	missense	possibly damaging	0.86
3_musketeers	UTSW	1	133354808	missense	probably damaging	1.00
quieted	UTSW	1	133350796	nonsense	probably null
snickers	UTSW	1	133356518	missense	probably damaging	1.00
R0268:Ren1	UTSW	1	133355611	missense	possibly damaging	0.74
R1115:Ren1	UTSW	1	133356518	missense	probably damaging	1.00
R1728:Ren1	UTSW	1	133354206	missense	probably damaging	0.99
R1728:Ren1	UTSW	1	133354237	missense	probably benign	0.12
R1728:Ren1	UTSW	1	133356457	missense	probably benign	0.29
R1728:Ren1	UTSW	1	133358982	splice site	probably null
R1728:Ren1	UTSW	1	133359079	missense	probably benign
R1728:Ren1	UTSW	1	133359983	missense	probably benign
R1728:Ren1	UTSW	1	133360007	missense	probably benign	0.02
R1729:Ren1	UTSW	1	133354206	missense	probably damaging	0.99
R1729:Ren1	UTSW	1	133354237	missense	probably benign	0.12
R1729:Ren1	UTSW	1	133359079	missense	probably benign
R1729:Ren1	UTSW	1	133360007	missense	probably benign	0.02
R1730:Ren1	UTSW	1	133354206	missense	probably damaging	0.99
R1730:Ren1	UTSW	1	133354237	missense	probably benign	0.12
R1730:Ren1	UTSW	1	133356457	missense	probably benign	0.29
R1730:Ren1	UTSW	1	133359079	missense	probably benign
R1730:Ren1	UTSW	1	133359983	missense	probably benign
R1730:Ren1	UTSW	1	133360007	missense	probably benign	0.02
R1739:Ren1	UTSW	1	133354206	missense	probably damaging	0.99
R1739:Ren1	UTSW	1	133354237	missense	probably benign	0.12
R1739:Ren1	UTSW	1	133356457	missense	probably benign	0.29
R1739:Ren1	UTSW	1	133359079	missense	probably benign
R1739:Ren1	UTSW	1	133359983	missense	probably benign
R1739:Ren1	UTSW	1	133360007	missense	probably benign	0.02
R1762:Ren1	UTSW	1	133354206	missense	probably damaging	0.99
R1762:Ren1	UTSW	1	133354237	missense	probably benign	0.12
R1762:Ren1	UTSW	1	133358982	splice site	probably null
R1762:Ren1	UTSW	1	133359079	missense	probably benign
R1762:Ren1	UTSW	1	133360007	missense	probably benign	0.02
R1783:Ren1	UTSW	1	133350778	splice site	probably null
R1783:Ren1	UTSW	1	133354206	missense	probably damaging	0.99
R1783:Ren1	UTSW	1	133354237	missense	probably benign	0.12
R1783:Ren1	UTSW	1	133359079	missense	probably benign
R1783:Ren1	UTSW	1	133359983	missense	probably benign
R1783:Ren1	UTSW	1	133360007	missense	probably benign	0.02
R1784:Ren1	UTSW	1	133350778	splice site	probably null
R1784:Ren1	UTSW	1	133354206	missense	probably damaging	0.99
R1784:Ren1	UTSW	1	133354237	missense	probably benign	0.12
R1784:Ren1	UTSW	1	133356457	missense	probably benign	0.29
R1784:Ren1	UTSW	1	133359079	missense	probably benign
R1784:Ren1	UTSW	1	133359983	missense	probably benign
R1784:Ren1	UTSW	1	133360007	missense	probably benign	0.02
R1785:Ren1	UTSW	1	133350778	splice site	probably null
R1785:Ren1	UTSW	1	133354206	missense	probably damaging	0.99
R1785:Ren1	UTSW	1	133354237	missense	probably benign	0.12
R1785:Ren1	UTSW	1	133359079	missense	probably benign
R1785:Ren1	UTSW	1	133359983	missense	probably benign
R1785:Ren1	UTSW	1	133360007	missense	probably benign	0.02
R2049:Ren1	UTSW	1	133350778	splice site	probably null
R2130:Ren1	UTSW	1	133350778	splice site	probably null
R2133:Ren1	UTSW	1	133358982	splice site	probably null
R2141:Ren1	UTSW	1	133350778	splice site	probably null
R2142:Ren1	UTSW	1	133350778	splice site	probably null
R2518:Ren1	UTSW	1	133360124	missense	probably damaging	1.00
R4361:Ren1	UTSW	1	133359041	missense	probably benign
R4584:Ren1	UTSW	1	133354808	missense	probably damaging	1.00
R5188:Ren1	UTSW	1	133350613	unclassified	probably benign
R5806:Ren1	UTSW	1	133355511	nonsense	probably null
R7999:Ren1	UTSW	1	133354866	missense	probably damaging	1.00
R8093:Ren1	UTSW	1	133360074	missense	probably damaging	1.00
R8175:Ren1	UTSW	1	133354269	missense	possibly damaging	0.94
R8259:Ren1	UTSW	1	133350796	nonsense	probably null
RF037:Ren1	UTSW	1	133350781	unclassified	probably benign
RF044:Ren1	UTSW	1	133350781	unclassified	probably benign
Z1177:Ren1	UTSW	1	133350750	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TATCAGAGCTGCCCTGCC -3'
(R):5'- GGCTTTCGGCTAGTCCCT -3'

Sequencing Primer
(F):5'- AAACAGGCTGCCTTTCATGG -3'
(R):5'- CTAGTCCCTAGGATTGTCAGAGCAG -3'

Posted On

2014-09-17