Incidental Mutation 'R5080:Corin'
ID |
387074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Corin
|
Ensembl Gene |
ENSMUSG00000005220 |
Gene Name |
corin, serine peptidase |
Synonyms |
Lrp4 |
MMRRC Submission |
042669-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R5080 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72457368-72661816 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 72511194 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: ENSMUST00000176320
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176396
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176439
|
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: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
Validation Efficiency |
96% (54/56) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
G |
A |
14: 103,286,744 (GRCm39) |
G16S |
possibly damaging |
Het |
Adcy4 |
A |
T |
14: 56,009,832 (GRCm39) |
M740K |
probably damaging |
Het |
Atp1a2 |
T |
C |
1: 172,112,012 (GRCm39) |
|
probably benign |
Het |
Atrn |
T |
A |
2: 130,812,044 (GRCm39) |
I663N |
possibly damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,567,394 (GRCm39) |
|
probably null |
Het |
Carf |
C |
A |
1: 60,189,772 (GRCm39) |
Q631K |
probably damaging |
Het |
Ces1d |
T |
C |
8: 93,908,175 (GRCm39) |
D306G |
probably benign |
Het |
Csf1r |
T |
C |
18: 61,257,373 (GRCm39) |
F575L |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,247,690 (GRCm39) |
D181G |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,162,565 (GRCm39) |
M1I |
probably null |
Het |
Dnah7b |
C |
T |
1: 46,221,540 (GRCm39) |
R1215* |
probably null |
Het |
Dpp3 |
T |
A |
19: 4,965,108 (GRCm39) |
D464V |
probably benign |
Het |
Drosha |
C |
A |
15: 12,842,229 (GRCm39) |
A344D |
probably benign |
Het |
Fat3 |
G |
T |
9: 15,910,634 (GRCm39) |
S1789R |
probably benign |
Het |
Fhip2a |
A |
T |
19: 57,361,713 (GRCm39) |
K134I |
probably damaging |
Het |
Frg2f1 |
T |
C |
4: 119,388,230 (GRCm39) |
T90A |
possibly damaging |
Het |
Frrs1 |
T |
C |
3: 116,696,585 (GRCm39) |
I544T |
probably benign |
Het |
Gm20939 |
T |
C |
17: 95,184,419 (GRCm39) |
C356R |
probably damaging |
Het |
Ifi206 |
T |
A |
1: 173,301,414 (GRCm39) |
I755F |
possibly damaging |
Het |
Kntc1 |
T |
A |
5: 123,900,649 (GRCm39) |
V249E |
possibly damaging |
Het |
Lama5 |
A |
T |
2: 179,848,993 (GRCm39) |
L230* |
probably null |
Het |
Lce1e |
C |
T |
3: 92,615,137 (GRCm39) |
C70Y |
unknown |
Het |
Ltbp2 |
T |
C |
12: 84,850,638 (GRCm39) |
N892S |
probably damaging |
Het |
Mfsd4b5 |
T |
A |
10: 39,846,570 (GRCm39) |
M337L |
probably damaging |
Het |
Noxo1 |
T |
A |
17: 24,918,331 (GRCm39) |
C164S |
probably damaging |
Het |
Or2y1b |
G |
T |
11: 49,208,914 (GRCm39) |
M180I |
probably benign |
Het |
Or5j3 |
G |
A |
2: 86,128,258 (GRCm39) |
V33M |
probably benign |
Het |
Osbpl6 |
T |
C |
2: 76,354,429 (GRCm39) |
S15P |
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,750 (GRCm39) |
Y1076C |
probably benign |
Het |
Pik3c2a |
T |
A |
7: 115,947,509 (GRCm39) |
H1391L |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,316,742 (GRCm39) |
Y573C |
probably benign |
Het |
Prpf3 |
T |
A |
3: 95,741,109 (GRCm39) |
H600L |
probably benign |
Het |
Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
Rpl15-ps6 |
A |
G |
15: 52,341,446 (GRCm39) |
|
noncoding transcript |
Het |
Serpini1 |
T |
C |
3: 75,523,967 (GRCm39) |
S192P |
probably damaging |
Het |
Sp110 |
G |
T |
1: 85,523,776 (GRCm39) |
Y18* |
probably null |
Het |
Stard6 |
A |
T |
18: 70,629,293 (GRCm39) |
I126F |
probably damaging |
Het |
Strip2 |
T |
A |
6: 29,945,592 (GRCm39) |
L660H |
probably damaging |
Het |
Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
Tns1 |
G |
T |
1: 73,992,099 (GRCm39) |
P860T |
probably damaging |
Het |
Togaram1 |
T |
C |
12: 65,030,177 (GRCm39) |
S994P |
probably benign |
Het |
Tomm34 |
G |
A |
2: 163,912,816 (GRCm39) |
|
probably benign |
Het |
Trank1 |
G |
A |
9: 111,218,289 (GRCm39) |
E1890K |
probably damaging |
Het |
Wasf3 |
C |
T |
5: 146,397,907 (GRCm39) |
H225Y |
probably benign |
Het |
Wdr37 |
A |
T |
13: 8,897,710 (GRCm39) |
|
probably null |
Het |
Zbtb7c |
A |
C |
18: 76,270,413 (GRCm39) |
D167A |
probably benign |
Het |
Zkscan4 |
A |
G |
13: 21,665,498 (GRCm39) |
T158A |
probably benign |
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 |
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 |
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'- CATCCGCAGCCACACATTTG -3'
(R):5'- GCCCCAGAAGACATCATTCTTAGTC -3'
Sequencing Primer
(F):5'- AGCCACACATTTGTTTCTTATTTCG -3'
(R):5'- CCTTCAGACAGAGGGTTGG -3'
|
Posted On |
2016-06-06 |