Incidental Mutation 'IGL02629:Corin'
ID |
301197 |
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 # |
IGL02629
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
72457368-72661816 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72490016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 653
(N653S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005352]
[ENSMUST00000167460]
[ENSMUST00000175766]
[ENSMUST00000176974]
[ENSMUST00000177290]
|
AlphaFold |
Q9Z319 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005352
AA Change: N719S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000005352 Gene: ENSMUSG00000005220 AA Change: N719S
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 damaging
Transcript: ENSMUST00000167460
AA Change: N653S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127389 Gene: ENSMUSG00000005220 AA Change: N653S
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: N578S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135889 Gene: ENSMUSG00000005220 AA Change: N578S
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 |
possibly damaging
Transcript: ENSMUST00000176974
AA Change: N616S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000135722 Gene: ENSMUSG00000005220 AA Change: N616S
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 damaging
Transcript: ENSMUST00000177290
AA Change: N586S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135511 Gene: ENSMUSG00000005220 AA Change: N586S
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,445,006 (GRCm39) |
|
probably benign |
Het |
Aadacl3 |
A |
G |
4: 144,190,199 (GRCm39) |
I34T |
possibly damaging |
Het |
Acan |
T |
A |
7: 78,761,727 (GRCm39) |
I1979N |
possibly damaging |
Het |
Ankrd27 |
A |
G |
7: 35,325,121 (GRCm39) |
D701G |
probably benign |
Het |
Arhgap31 |
C |
T |
16: 38,429,526 (GRCm39) |
G450S |
probably benign |
Het |
Braf |
T |
C |
6: 39,665,233 (GRCm39) |
E45G |
possibly damaging |
Het |
Btnl6 |
C |
T |
17: 34,733,442 (GRCm39) |
V178M |
probably damaging |
Het |
Capg |
A |
T |
6: 72,532,737 (GRCm39) |
Q67L |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,736,525 (GRCm39) |
N663S |
probably damaging |
Het |
Casz1 |
T |
A |
4: 149,028,848 (GRCm39) |
S1098T |
probably benign |
Het |
Cd55b |
A |
T |
1: 130,347,535 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,384,531 (GRCm39) |
L2583P |
probably damaging |
Het |
Clec4a1 |
A |
C |
6: 122,909,106 (GRCm39) |
|
probably null |
Het |
Dhx36 |
T |
C |
3: 62,414,155 (GRCm39) |
E69G |
probably benign |
Het |
Dpy19l1 |
C |
A |
9: 24,350,009 (GRCm39) |
|
probably benign |
Het |
Fam184a |
T |
C |
10: 53,574,907 (GRCm39) |
N234S |
possibly damaging |
Het |
Foxg1 |
A |
G |
12: 49,432,331 (GRCm39) |
S355G |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,686,417 (GRCm39) |
S277P |
probably damaging |
Het |
Hadh |
T |
A |
3: 131,029,284 (GRCm39) |
D245V |
probably damaging |
Het |
Jag2 |
G |
A |
12: 112,878,134 (GRCm39) |
|
probably benign |
Het |
Klhl18 |
A |
T |
9: 110,259,006 (GRCm39) |
|
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,875,799 (GRCm39) |
Y89C |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,817,024 (GRCm39) |
Y31F |
possibly damaging |
Het |
Ndufb5 |
A |
G |
3: 32,791,348 (GRCm39) |
T32A |
probably benign |
Het |
Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
Nudt6 |
A |
G |
3: 37,459,320 (GRCm39) |
Y222H |
probably benign |
Het |
Or4x6 |
A |
T |
2: 89,949,201 (GRCm39) |
L247* |
probably null |
Het |
Pla2g4c |
A |
T |
7: 13,069,302 (GRCm39) |
R159* |
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,940,957 (GRCm39) |
D1103G |
probably damaging |
Het |
Pof1b |
T |
G |
X: 111,554,934 (GRCm39) |
|
probably benign |
Het |
Prrg2 |
C |
T |
7: 44,706,166 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
A |
G |
1: 127,837,600 (GRCm39) |
T221A |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,526,541 (GRCm39) |
N1244D |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rnf123 |
A |
T |
9: 107,947,988 (GRCm39) |
|
probably benign |
Het |
Rnf44 |
T |
G |
13: 54,830,875 (GRCm39) |
Q207P |
possibly damaging |
Het |
Serpina3g |
A |
G |
12: 104,207,437 (GRCm39) |
D200G |
probably damaging |
Het |
Slc5a4a |
T |
A |
10: 75,983,413 (GRCm39) |
S17T |
unknown |
Het |
Smc4 |
G |
T |
3: 68,933,206 (GRCm39) |
C609F |
probably damaging |
Het |
Sync |
T |
C |
4: 129,187,744 (GRCm39) |
F259L |
probably damaging |
Het |
Tas2r113 |
T |
C |
6: 132,870,299 (GRCm39) |
L109P |
probably damaging |
Het |
Tjp2 |
C |
A |
19: 24,099,743 (GRCm39) |
|
probably benign |
Het |
Tmem30a |
C |
A |
9: 79,683,531 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,522,476 (GRCm39) |
V226A |
possibly damaging |
Het |
Upk2 |
A |
T |
9: 44,365,436 (GRCm39) |
L44Q |
probably damaging |
Het |
Usp42 |
T |
C |
5: 143,708,909 (GRCm39) |
Y203C |
possibly damaging |
Het |
Vmn1r28 |
A |
T |
6: 58,242,801 (GRCm39) |
I215F |
probably benign |
Het |
Zswim2 |
A |
G |
2: 83,755,553 (GRCm39) |
V116A |
possibly 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 |
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 |