Incidental Mutation 'IGL02097:Corin'
ID |
279620 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Corin
|
Ensembl Gene |
ENSMUSG00000005220 |
Gene Name |
corin, serine peptidase |
Synonyms |
Lrp4 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
IGL02097
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
72457368-72661816 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72529489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 289
(C289S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005352]
[ENSMUST00000167460]
[ENSMUST00000175766]
[ENSMUST00000176974]
[ENSMUST00000177290]
|
AlphaFold |
Q9Z319 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005352
AA Change: C357S
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000005352 Gene: ENSMUSG00000005220 AA Change: C357S
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
AA Change: C291S
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127389 Gene: ENSMUSG00000005220 AA Change: C291S
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 damaging
Transcript: ENSMUST00000175766
AA Change: C289S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135889 Gene: ENSMUSG00000005220 AA Change: C289S
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 |
noncoding transcript
Transcript: ENSMUST00000176439
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176974
AA Change: C291S
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135722 Gene: ENSMUSG00000005220 AA Change: C291S
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 |
possibly damaging
Transcript: ENSMUST00000177290
AA Change: C224S
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135511 Gene: ENSMUSG00000005220 AA Change: C224S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
T |
5: 105,109,052 (GRCm39) |
V415D |
possibly damaging |
Het |
Adcy3 |
C |
T |
12: 4,262,118 (GRCm39) |
A1056V |
probably damaging |
Het |
Adcy5 |
G |
A |
16: 35,092,468 (GRCm39) |
A610T |
probably damaging |
Het |
Arhgap21 |
G |
A |
2: 20,884,813 (GRCm39) |
T788I |
probably benign |
Het |
Asic1 |
T |
C |
15: 99,592,567 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
T |
A |
9: 107,870,199 (GRCm39) |
M68K |
probably benign |
Het |
Cdhr5 |
G |
T |
7: 140,849,894 (GRCm39) |
T637K |
probably damaging |
Het |
Cpne4 |
T |
C |
9: 104,563,701 (GRCm39) |
V26A |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,261,773 (GRCm39) |
D908G |
probably null |
Het |
Cyp2c29 |
A |
G |
19: 39,296,064 (GRCm39) |
D126G |
probably damaging |
Het |
Ddx42 |
G |
A |
11: 106,129,986 (GRCm39) |
S426N |
probably benign |
Het |
Dnah1 |
C |
T |
14: 31,026,958 (GRCm39) |
V689M |
possibly damaging |
Het |
Dtwd1 |
A |
G |
2: 126,006,715 (GRCm39) |
T246A |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,205,889 (GRCm39) |
M1036K |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,048,527 (GRCm39) |
N536S |
probably benign |
Het |
Gnal |
G |
A |
18: 67,350,279 (GRCm39) |
|
probably benign |
Het |
Gns |
A |
G |
10: 121,226,598 (GRCm39) |
T416A |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,124,943 (GRCm39) |
T603I |
probably damaging |
Het |
Hsp90b1 |
T |
A |
10: 86,527,548 (GRCm39) |
|
probably benign |
Het |
Krt23 |
C |
T |
11: 99,383,836 (GRCm39) |
G19R |
probably benign |
Het |
Lama2 |
C |
T |
10: 27,014,956 (GRCm39) |
R1584H |
probably benign |
Het |
Lmbr1l |
C |
T |
15: 98,815,772 (GRCm39) |
V11M |
probably damaging |
Het |
Man1a2 |
T |
C |
3: 100,489,447 (GRCm39) |
K511E |
possibly damaging |
Het |
Mrgpra3 |
C |
A |
7: 47,239,204 (GRCm39) |
V241F |
possibly damaging |
Het |
Myh3 |
A |
G |
11: 66,973,750 (GRCm39) |
D141G |
probably benign |
Het |
Mylk2 |
G |
A |
2: 152,757,056 (GRCm39) |
C277Y |
probably damaging |
Het |
Myo3b |
A |
T |
2: 70,069,173 (GRCm39) |
T471S |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,562,096 (GRCm39) |
V1023A |
probably benign |
Het |
Olfm5 |
T |
A |
7: 103,803,438 (GRCm39) |
T342S |
probably benign |
Het |
Or10g1 |
A |
G |
14: 52,647,511 (GRCm39) |
F273L |
probably benign |
Het |
Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
Pglyrp4 |
T |
C |
3: 90,642,910 (GRCm39) |
F263L |
probably benign |
Het |
Plekhh2 |
A |
T |
17: 84,906,608 (GRCm39) |
T1148S |
possibly damaging |
Het |
Prrc2b |
T |
C |
2: 32,081,513 (GRCm39) |
|
probably benign |
Het |
Rbm28 |
G |
T |
6: 29,138,617 (GRCm39) |
D398E |
possibly damaging |
Het |
Rnf220 |
A |
G |
4: 117,130,524 (GRCm39) |
F234L |
probably benign |
Het |
Sele |
T |
C |
1: 163,880,662 (GRCm39) |
S415P |
probably benign |
Het |
Shpk |
T |
C |
11: 73,094,821 (GRCm39) |
L79P |
probably damaging |
Het |
Slc35f4 |
C |
T |
14: 49,543,703 (GRCm39) |
A148T |
probably damaging |
Het |
Slc6a20a |
G |
A |
9: 123,489,684 (GRCm39) |
P120S |
possibly damaging |
Het |
Slc8a2 |
A |
G |
7: 15,891,081 (GRCm39) |
E701G |
possibly damaging |
Het |
Slco1a1 |
T |
A |
6: 141,885,765 (GRCm39) |
I87F |
possibly damaging |
Het |
Srebf1 |
T |
G |
11: 60,093,650 (GRCm39) |
D739A |
probably damaging |
Het |
Thg1l |
A |
G |
11: 45,841,055 (GRCm39) |
Y175H |
probably benign |
Het |
Traf3ip2 |
G |
A |
10: 39,530,475 (GRCm39) |
V540M |
probably damaging |
Het |
Wdr48 |
A |
G |
9: 119,753,329 (GRCm39) |
D644G |
probably damaging |
Het |
Zbtb1 |
A |
T |
12: 76,433,371 (GRCm39) |
K452N |
probably damaging |
Het |
Zfhx2 |
C |
T |
14: 55,300,351 (GRCm39) |
G2467R |
probably damaging |
Het |
Zfp334 |
A |
T |
2: 165,223,643 (GRCm39) |
Y133* |
probably null |
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 |
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 |
R0724:Corin
|
UTSW |
5 |
72,490,138 (GRCm39) |
splice site |
probably benign |
|
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 |
|
Posted On |
2015-04-16 |