Incidental Mutation 'R0724:Corin'
ID |
63809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Corin
|
Ensembl Gene |
ENSMUSG00000005220 |
Gene Name |
corin, serine peptidase |
Synonyms |
Lrp4 |
MMRRC Submission |
038906-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.237)
|
Stock # |
R0724 (G1)
|
Quality Score |
109 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72457368-72661816 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 72490138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005352]
[ENSMUST00000167460]
[ENSMUST00000175766]
[ENSMUST00000176974]
[ENSMUST00000177290]
|
AlphaFold |
Q9Z319 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005352
|
SMART Domains |
Protein: ENSMUSP00000005352 Gene: ENSMUSG00000005220
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
FRI
|
205 |
318 |
6.15e-11 |
SMART |
LDLa
|
336 |
372 |
1.31e-8 |
SMART |
LDLa
|
373 |
408 |
1.5e-8 |
SMART |
LDLa
|
409 |
447 |
5.47e-11 |
SMART |
LDLa
|
448 |
484 |
1.22e-8 |
SMART |
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
FRI
|
522 |
643 |
2.75e-31 |
SMART |
LDLa
|
647 |
684 |
2.19e-10 |
SMART |
LDLa
|
685 |
722 |
1.76e-5 |
SMART |
LDLa
|
723 |
759 |
4.18e-7 |
SMART |
SR
|
758 |
853 |
3.99e-10 |
SMART |
Tryp_SPc
|
868 |
1097 |
5.45e-76 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167460
|
SMART Domains |
Protein: ENSMUSP00000127389 Gene: ENSMUSG00000005220
Domain | Start | End | E-Value | Type |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
FRI
|
139 |
252 |
6.15e-11 |
SMART |
LDLa
|
270 |
306 |
1.31e-8 |
SMART |
LDLa
|
307 |
342 |
1.5e-8 |
SMART |
LDLa
|
343 |
381 |
5.47e-11 |
SMART |
LDLa
|
382 |
418 |
1.22e-8 |
SMART |
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
FRI
|
456 |
577 |
2.75e-31 |
SMART |
LDLa
|
581 |
618 |
2.19e-10 |
SMART |
LDLa
|
619 |
656 |
1.76e-5 |
SMART |
LDLa
|
657 |
693 |
4.18e-7 |
SMART |
SR
|
692 |
787 |
3.99e-10 |
SMART |
Tryp_SPc
|
802 |
1031 |
5.45e-76 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175766
|
SMART Domains |
Protein: ENSMUSP00000135889 Gene: ENSMUSG00000005220
Domain | Start | End | E-Value | Type |
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
FRI
|
137 |
250 |
6.15e-11 |
SMART |
LDLa
|
268 |
304 |
1.31e-8 |
SMART |
LDLa
|
305 |
343 |
2.07e-11 |
SMART |
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
FRI
|
381 |
502 |
2.75e-31 |
SMART |
LDLa
|
506 |
543 |
2.19e-10 |
SMART |
LDLa
|
544 |
581 |
1.76e-5 |
SMART |
LDLa
|
582 |
618 |
4.18e-7 |
SMART |
SR
|
617 |
712 |
3.99e-10 |
SMART |
Tryp_SPc
|
727 |
956 |
5.45e-76 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176396
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176974
|
SMART Domains |
Protein: ENSMUSP00000135722 Gene: ENSMUSG00000005220
Domain | Start | End | E-Value | Type |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
FRI
|
139 |
252 |
6.15e-11 |
SMART |
LDLa
|
270 |
306 |
1.31e-8 |
SMART |
LDLa
|
307 |
344 |
3.86e-11 |
SMART |
LDLa
|
345 |
381 |
1.22e-8 |
SMART |
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
FRI
|
419 |
540 |
2.75e-31 |
SMART |
LDLa
|
544 |
581 |
2.19e-10 |
SMART |
LDLa
|
582 |
619 |
1.76e-5 |
SMART |
LDLa
|
620 |
656 |
4.18e-7 |
SMART |
SR
|
655 |
750 |
3.99e-10 |
SMART |
Tryp_SPc
|
765 |
994 |
5.45e-76 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177290
|
SMART Domains |
Protein: ENSMUSP00000135511 Gene: ENSMUSG00000005220
Domain | Start | End | E-Value | Type |
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
FRI
|
72 |
185 |
6.15e-11 |
SMART |
LDLa
|
203 |
239 |
1.31e-8 |
SMART |
LDLa
|
240 |
275 |
1.5e-8 |
SMART |
LDLa
|
276 |
314 |
5.47e-11 |
SMART |
LDLa
|
315 |
351 |
1.22e-8 |
SMART |
low complexity region
|
375 |
388 |
N/A |
INTRINSIC |
FRI
|
389 |
510 |
2.75e-31 |
SMART |
LDLa
|
514 |
551 |
2.19e-10 |
SMART |
LDLa
|
552 |
589 |
1.76e-5 |
SMART |
LDLa
|
590 |
626 |
4.18e-7 |
SMART |
SR
|
625 |
720 |
3.99e-10 |
SMART |
Tryp_SPc
|
735 |
964 |
5.45e-76 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
100% (62/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] PHENOTYPE: Homozygous null mice display hypertension that is enhanced by high-salt diet and pregnancy, increased body weight, and cardiac hypertrophy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,981,573 (GRCm39) |
E136G |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,159,281 (GRCm39) |
S655R |
probably benign |
Het |
Ak7 |
T |
A |
12: 105,676,513 (GRCm39) |
V71E |
probably benign |
Het |
Ank2 |
C |
T |
3: 126,755,986 (GRCm39) |
R1077H |
probably damaging |
Het |
Anxa3 |
A |
G |
5: 96,976,607 (GRCm39) |
T198A |
possibly damaging |
Het |
Atp1a1 |
A |
T |
3: 101,499,755 (GRCm39) |
I109N |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,162,349 (GRCm39) |
I119T |
probably damaging |
Het |
Carm1 |
A |
G |
9: 21,498,670 (GRCm39) |
Y504C |
probably damaging |
Het |
Casp1 |
C |
T |
9: 5,303,077 (GRCm39) |
P177L |
probably benign |
Het |
Ccdc122 |
C |
A |
14: 77,329,517 (GRCm39) |
|
probably benign |
Het |
Ces1a |
A |
G |
8: 93,766,141 (GRCm39) |
S158P |
probably damaging |
Het |
Ces3a |
T |
A |
8: 105,776,827 (GRCm39) |
D103E |
possibly damaging |
Het |
Clstn1 |
A |
C |
4: 149,728,081 (GRCm39) |
D583A |
possibly damaging |
Het |
Cryba1 |
T |
C |
11: 77,610,283 (GRCm39) |
D144G |
probably damaging |
Het |
Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
C |
9: 64,214,408 (GRCm39) |
T1027A |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,559,213 (GRCm39) |
E653G |
probably benign |
Het |
Dst |
A |
G |
1: 34,227,758 (GRCm39) |
I1459V |
probably benign |
Het |
Dyrk3 |
T |
C |
1: 131,057,877 (GRCm39) |
T64A |
probably benign |
Het |
Emp2 |
C |
T |
16: 10,102,479 (GRCm39) |
C111Y |
probably benign |
Het |
Enam |
A |
G |
5: 88,649,853 (GRCm39) |
Y454C |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,193,984 (GRCm39) |
C1328S |
probably benign |
Het |
Gata3 |
T |
C |
2: 9,879,386 (GRCm39) |
T197A |
probably benign |
Het |
Gm1043 |
A |
G |
5: 37,344,573 (GRCm39) |
T212A |
probably damaging |
Het |
H2-Eb1 |
T |
C |
17: 34,534,006 (GRCm39) |
|
probably benign |
Het |
Hand1 |
T |
C |
11: 57,722,506 (GRCm39) |
H36R |
probably damaging |
Het |
Hmgcs2 |
C |
A |
3: 98,204,317 (GRCm39) |
Y239* |
probably null |
Het |
Hoxc12 |
A |
G |
15: 102,845,490 (GRCm39) |
Y68C |
probably damaging |
Het |
Inpp5a |
A |
G |
7: 139,096,579 (GRCm39) |
I143V |
probably benign |
Het |
Klhdc2 |
C |
A |
12: 69,343,822 (GRCm39) |
F18L |
probably benign |
Het |
Kpnb1 |
T |
C |
11: 97,069,130 (GRCm39) |
Y251C |
probably damaging |
Het |
Lrch4 |
A |
T |
5: 137,635,570 (GRCm39) |
N315I |
probably damaging |
Het |
Map3k10 |
A |
C |
7: 27,367,780 (GRCm39) |
V286G |
probably damaging |
Het |
Myo7b |
G |
A |
18: 32,138,602 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
G |
T |
7: 5,322,221 (GRCm39) |
L809I |
probably damaging |
Het |
Oacyl |
T |
C |
18: 65,870,896 (GRCm39) |
|
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,583,374 (GRCm39) |
V175A |
possibly damaging |
Het |
Paxbp1 |
T |
A |
16: 90,833,424 (GRCm39) |
D270V |
probably damaging |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pira13 |
T |
C |
7: 3,819,871 (GRCm39) |
N564S |
possibly damaging |
Het |
Plcb3 |
G |
A |
19: 6,940,760 (GRCm39) |
R359C |
probably damaging |
Het |
Plcxd3 |
G |
A |
15: 4,546,350 (GRCm39) |
S118N |
probably damaging |
Het |
Ptpn14 |
T |
C |
1: 189,583,144 (GRCm39) |
S664P |
possibly damaging |
Het |
Sirt1 |
T |
C |
10: 63,159,752 (GRCm39) |
I443V |
possibly damaging |
Het |
Slc7a8 |
G |
A |
14: 54,972,643 (GRCm39) |
|
probably benign |
Het |
Smim14 |
A |
G |
5: 65,610,682 (GRCm39) |
|
probably benign |
Het |
Sost |
C |
T |
11: 101,857,744 (GRCm39) |
C19Y |
probably benign |
Het |
Tcaf1 |
G |
T |
6: 42,652,301 (GRCm39) |
A727E |
probably damaging |
Het |
Thoc1 |
T |
C |
18: 9,963,829 (GRCm39) |
L144P |
probably damaging |
Het |
Tmem132b |
A |
T |
5: 125,860,485 (GRCm39) |
T577S |
possibly damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tshr |
T |
C |
12: 91,505,060 (GRCm39) |
F666S |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,698,205 (GRCm39) |
V192A |
possibly damaging |
Het |
Zfp697 |
T |
C |
3: 98,335,482 (GRCm39) |
W416R |
probably damaging |
Het |
|
Other mutations in Corin |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00557:Corin
|
APN |
5 |
72,462,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01114:Corin
|
APN |
5 |
72,462,354 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01351:Corin
|
APN |
5 |
72,496,334 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01516:Corin
|
APN |
5 |
72,611,830 (GRCm39) |
nonsense |
probably null |
|
IGL01785:Corin
|
APN |
5 |
72,497,219 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01786:Corin
|
APN |
5 |
72,497,219 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01845:Corin
|
APN |
5 |
72,511,282 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02097:Corin
|
APN |
5 |
72,529,489 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02629:Corin
|
APN |
5 |
72,490,016 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03085:Corin
|
APN |
5 |
72,511,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03120:Corin
|
APN |
5 |
72,518,032 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03150:Corin
|
APN |
5 |
72,460,201 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03183:Corin
|
APN |
5 |
72,458,929 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03185:Corin
|
APN |
5 |
72,490,124 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03408:Corin
|
APN |
5 |
72,500,304 (GRCm39) |
missense |
probably benign |
0.40 |
alpaca
|
UTSW |
5 |
72,661,295 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0078:Corin
|
UTSW |
5 |
72,611,816 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1065:Corin
|
UTSW |
5 |
72,458,993 (GRCm39) |
nonsense |
probably null |
|
R1301:Corin
|
UTSW |
5 |
72,462,276 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1466:Corin
|
UTSW |
5 |
72,460,133 (GRCm39) |
critical splice donor site |
probably null |
|
R1466:Corin
|
UTSW |
5 |
72,460,133 (GRCm39) |
critical splice donor site |
probably null |
|
R1520:Corin
|
UTSW |
5 |
72,488,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Corin
|
UTSW |
5 |
72,460,133 (GRCm39) |
critical splice donor site |
probably null |
|
R1617:Corin
|
UTSW |
5 |
72,661,295 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1912:Corin
|
UTSW |
5 |
72,515,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R2059:Corin
|
UTSW |
5 |
72,473,394 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2173:Corin
|
UTSW |
5 |
72,661,422 (GRCm39) |
missense |
probably benign |
0.01 |
R2242:Corin
|
UTSW |
5 |
72,490,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R2373:Corin
|
UTSW |
5 |
72,496,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R2850:Corin
|
UTSW |
5 |
72,462,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R3683:Corin
|
UTSW |
5 |
72,488,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R3684:Corin
|
UTSW |
5 |
72,488,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R3790:Corin
|
UTSW |
5 |
72,592,641 (GRCm39) |
missense |
probably benign |
0.38 |
R3847:Corin
|
UTSW |
5 |
72,579,508 (GRCm39) |
missense |
probably benign |
0.13 |
R3926:Corin
|
UTSW |
5 |
72,529,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R3939:Corin
|
UTSW |
5 |
72,497,222 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3945:Corin
|
UTSW |
5 |
72,515,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R4079:Corin
|
UTSW |
5 |
72,661,226 (GRCm39) |
missense |
probably benign |
0.03 |
R4224:Corin
|
UTSW |
5 |
72,500,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R4473:Corin
|
UTSW |
5 |
72,496,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R4585:Corin
|
UTSW |
5 |
72,487,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R4586:Corin
|
UTSW |
5 |
72,487,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R4849:Corin
|
UTSW |
5 |
72,460,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Corin
|
UTSW |
5 |
72,529,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R5080:Corin
|
UTSW |
5 |
72,511,194 (GRCm39) |
intron |
probably benign |
|
R5138:Corin
|
UTSW |
5 |
72,496,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R5262:Corin
|
UTSW |
5 |
72,462,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R5268:Corin
|
UTSW |
5 |
72,500,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R5302:Corin
|
UTSW |
5 |
72,473,441 (GRCm39) |
missense |
probably benign |
0.07 |
R5307:Corin
|
UTSW |
5 |
72,514,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R5324:Corin
|
UTSW |
5 |
72,592,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R5352:Corin
|
UTSW |
5 |
72,462,376 (GRCm39) |
missense |
probably benign |
0.04 |
R5373:Corin
|
UTSW |
5 |
72,462,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R5374:Corin
|
UTSW |
5 |
72,462,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R5484:Corin
|
UTSW |
5 |
72,515,827 (GRCm39) |
missense |
probably benign |
0.15 |
R5502:Corin
|
UTSW |
5 |
72,473,449 (GRCm39) |
nonsense |
probably null |
|
R5544:Corin
|
UTSW |
5 |
72,462,357 (GRCm39) |
nonsense |
probably null |
|
R5682:Corin
|
UTSW |
5 |
72,579,497 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5818:Corin
|
UTSW |
5 |
72,592,738 (GRCm39) |
missense |
probably benign |
0.00 |
R5992:Corin
|
UTSW |
5 |
72,473,732 (GRCm39) |
missense |
probably benign |
0.01 |
R6115:Corin
|
UTSW |
5 |
72,518,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R6181:Corin
|
UTSW |
5 |
72,529,439 (GRCm39) |
critical splice donor site |
probably null |
|
R6317:Corin
|
UTSW |
5 |
72,496,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Corin
|
UTSW |
5 |
72,458,870 (GRCm39) |
missense |
probably benign |
0.28 |
R7242:Corin
|
UTSW |
5 |
72,462,398 (GRCm39) |
missense |
probably benign |
0.14 |
R7452:Corin
|
UTSW |
5 |
72,592,590 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7783:Corin
|
UTSW |
5 |
72,458,967 (GRCm39) |
missense |
probably benign |
0.26 |
R7903:Corin
|
UTSW |
5 |
72,458,843 (GRCm39) |
missense |
probably benign |
0.00 |
R7956:Corin
|
UTSW |
5 |
72,579,530 (GRCm39) |
missense |
probably damaging |
0.99 |
R8007:Corin
|
UTSW |
5 |
72,473,446 (GRCm39) |
missense |
probably damaging |
0.96 |
R8125:Corin
|
UTSW |
5 |
72,515,806 (GRCm39) |
missense |
probably damaging |
0.96 |
R8215:Corin
|
UTSW |
5 |
72,462,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R8251:Corin
|
UTSW |
5 |
72,514,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R8364:Corin
|
UTSW |
5 |
72,462,274 (GRCm39) |
missense |
probably benign |
|
R8505:Corin
|
UTSW |
5 |
72,592,750 (GRCm39) |
missense |
probably benign |
0.21 |
R8746:Corin
|
UTSW |
5 |
72,592,695 (GRCm39) |
missense |
probably benign |
0.31 |
R8887:Corin
|
UTSW |
5 |
72,486,953 (GRCm39) |
critical splice donor site |
probably null |
|
R9484:Corin
|
UTSW |
5 |
72,497,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9640:Corin
|
UTSW |
5 |
72,592,597 (GRCm39) |
missense |
probably benign |
|
Z1177:Corin
|
UTSW |
5 |
72,611,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAACCCAGATCAAATAACTCAGGAGTG -3'
(R):5'- CAGAATGGAGACTGCCGTGAGC -3'
Sequencing Primer
(F):5'- CATTTTGGATACTAGCATGAGGTC -3'
(R):5'- GCTCCTACTTTCAGAATCACACG -3'
|
Posted On |
2013-07-30 |