Incidental Mutation 'R4361:Ren1'
| ID |
324883 |
| 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 |
041112-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4361 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133278412-133288058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133286779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 303
(I303V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094556]
[ENSMUST00000112287]
[ENSMUST00000135222]
|
| AlphaFold |
P06281 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094556
AA Change: I303V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092135
Gene: ENSMUSG00000070645
AA Change: I303V
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135222
|
| SMART Domains |
Protein: ENSMUSP00000114272
Gene: ENSMUSG00000070644
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147909
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (61/61) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,688 (GRCm39) |
T538A |
probably damaging |
Het |
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Aadac |
T |
A |
3: 59,947,182 (GRCm39) |
S293R |
probably benign |
Het |
| Cc2d1b |
G |
A |
4: 108,481,947 (GRCm39) |
|
probably benign |
Het |
| Ccdc157 |
C |
T |
11: 4,096,550 (GRCm39) |
A400T |
probably damaging |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,779 (GRCm39) |
V3A |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,865 (GRCm39) |
M232L |
possibly damaging |
Het |
| Dhrs2 |
G |
A |
14: 55,478,646 (GRCm39) |
D264N |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,473,531 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
C |
A |
19: 12,462,660 (GRCm39) |
S373I |
probably benign |
Het |
| Eif4a1 |
G |
A |
11: 69,558,290 (GRCm39) |
|
probably benign |
Het |
| Eps15 |
T |
C |
4: 109,237,228 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,362,676 (GRCm39) |
Q235L |
probably damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,880,676 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
C |
T |
5: 71,790,888 (GRCm39) |
|
probably null |
Het |
| Gins1 |
A |
G |
2: 150,767,821 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gm12253 |
T |
A |
11: 58,325,687 (GRCm39) |
S53T |
probably benign |
Het |
| Gne |
C |
A |
4: 44,059,947 (GRCm39) |
A149S |
possibly damaging |
Het |
| Gpc2 |
A |
T |
5: 138,276,552 (GRCm39) |
C191* |
probably null |
Het |
| Has2 |
G |
T |
15: 56,545,344 (GRCm39) |
A86E |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,870,982 (GRCm39) |
S205T |
probably damaging |
Het |
| Irx5 |
G |
T |
8: 93,085,025 (GRCm39) |
A72S |
probably damaging |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
| Kcnt1 |
A |
T |
2: 25,768,044 (GRCm39) |
Q51L |
probably benign |
Het |
| Klk1b11 |
A |
G |
7: 43,645,378 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
G |
15: 98,761,551 (GRCm39) |
M600L |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,084,482 (GRCm39) |
S172R |
probably damaging |
Het |
| Lrrc37 |
CTTTT |
CTTTTT |
11: 103,508,327 (GRCm39) |
|
probably null |
Het |
| Lrrc46 |
G |
A |
11: 96,925,496 (GRCm39) |
|
probably benign |
Het |
| Mab21l2 |
C |
T |
3: 86,454,497 (GRCm39) |
V168M |
probably damaging |
Het |
| Magea3 |
A |
C |
X: 153,731,850 (GRCm39) |
C218G |
possibly damaging |
Het |
| Magea3 |
C |
A |
X: 153,731,849 (GRCm39) |
C218F |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,563,358 (GRCm39) |
K96E |
probably benign |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Myf6 |
GGGGGCAG |
GG |
10: 107,330,293 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nav1 |
G |
A |
1: 135,535,175 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,688,847 (GRCm39) |
K477E |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,794,921 (GRCm39) |
H862L |
probably damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,495,037 (GRCm39) |
S1608* |
probably null |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Retreg3 |
T |
A |
11: 100,994,713 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
C |
A |
5: 146,148,089 (GRCm39) |
V310F |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,923,064 (GRCm39) |
A169V |
probably null |
Het |
| Slc4a10 |
T |
C |
2: 62,073,729 (GRCm39) |
S264P |
probably benign |
Het |
| Tex26 |
A |
T |
5: 149,384,388 (GRCm39) |
Q102L |
probably benign |
Het |
| Tex38 |
A |
G |
4: 115,637,420 (GRCm39) |
S128P |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,311,626 (GRCm39) |
|
probably benign |
Het |
| Tyr |
G |
T |
7: 87,078,284 (GRCm39) |
H525Q |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,066,737 (GRCm39) |
N417S |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,683,764 (GRCm39) |
S331T |
probably damaging |
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 |
|
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'- CCTAAATTGGGAAAGGCATGC -3'
(R):5'- ACATGCCATACACTCAGGGG -3'
Sequencing Primer
(F):5'- GTGCCCGACAGCTTCTAC -3'
(R):5'- CATACACTCAGGGGGTGGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation