Incidental Mutation 'R3790:Corin'
ID |
272482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Corin
|
Ensembl Gene |
ENSMUSG00000005220 |
Gene Name |
corin, serine peptidase |
Synonyms |
Lrp4 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.237)
|
Stock # |
R3790 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72457368-72661816 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72592641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 184
(Q184R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005352]
[ENSMUST00000167460]
[ENSMUST00000175766]
[ENSMUST00000176974]
[ENSMUST00000177290]
|
AlphaFold |
Q9Z319 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005352
AA Change: Q252R
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000005352 Gene: ENSMUSG00000005220 AA Change: Q252R
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: Q186R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000127389 Gene: ENSMUSG00000005220 AA Change: Q186R
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
AA Change: Q184R
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135889 Gene: ENSMUSG00000005220 AA Change: Q184R
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 |
probably benign
Transcript: ENSMUST00000176974
AA Change: Q186R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000135722 Gene: ENSMUSG00000005220 AA Change: Q186R
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
AA Change: Q119R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000135511 Gene: ENSMUSG00000005220 AA Change: Q119R
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 |
0.1112 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (47/48) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat3 |
G |
A |
17: 13,147,460 (GRCm39) |
Q186* |
probably null |
Het |
Alk |
A |
G |
17: 72,910,427 (GRCm39) |
L93P |
possibly damaging |
Het |
Ankrd24 |
C |
T |
10: 81,478,513 (GRCm39) |
|
probably benign |
Het |
Anks6 |
A |
T |
4: 47,049,212 (GRCm39) |
V231E |
probably damaging |
Het |
Ap5z1 |
C |
T |
5: 142,456,168 (GRCm39) |
S329L |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,446,485 (GRCm39) |
|
probably benign |
Het |
Cemip2 |
T |
G |
19: 21,784,816 (GRCm39) |
I433S |
probably damaging |
Het |
Cers4 |
C |
A |
8: 4,568,285 (GRCm39) |
Q113K |
possibly damaging |
Het |
Ces3b |
A |
T |
8: 105,813,520 (GRCm39) |
I264F |
possibly damaging |
Het |
Cops3 |
T |
C |
11: 59,718,797 (GRCm39) |
M166V |
probably benign |
Het |
Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
Gm53 |
T |
C |
11: 96,142,477 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn1 |
A |
G |
1: 150,498,745 (GRCm39) |
S4045P |
probably benign |
Het |
Kif22 |
A |
G |
7: 126,628,668 (GRCm39) |
L480P |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,648,111 (GRCm39) |
|
probably benign |
Het |
Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
Lnx1 |
A |
G |
5: 74,789,027 (GRCm39) |
|
probably benign |
Het |
Lrsam1 |
T |
C |
2: 32,848,171 (GRCm39) |
E43G |
probably null |
Het |
Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
Nbea |
T |
A |
3: 55,912,450 (GRCm39) |
E1112D |
probably benign |
Het |
Nepn |
T |
A |
10: 52,276,626 (GRCm39) |
L60I |
probably damaging |
Het |
Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
Or4c122 |
A |
G |
2: 89,079,337 (GRCm39) |
F234L |
probably benign |
Het |
Or4k5 |
A |
C |
14: 50,386,026 (GRCm39) |
F102V |
possibly damaging |
Het |
Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
Psg23 |
C |
A |
7: 18,346,126 (GRCm39) |
V190L |
probably benign |
Het |
Psg29 |
A |
G |
7: 16,938,950 (GRCm39) |
K75E |
possibly damaging |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Rgs4 |
A |
G |
1: 169,571,991 (GRCm39) |
S103P |
probably damaging |
Het |
Sis |
T |
C |
3: 72,828,747 (GRCm39) |
Y1144C |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,907,001 (GRCm39) |
|
probably benign |
Het |
Snrnp35 |
T |
A |
5: 124,628,248 (GRCm39) |
D20E |
probably damaging |
Het |
Syce1l |
C |
A |
8: 114,369,897 (GRCm39) |
A10E |
possibly damaging |
Het |
Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
Tmem212 |
T |
C |
3: 27,940,594 (GRCm39) |
|
probably null |
Het |
Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,568,471 (GRCm39) |
C27474F |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
Vars1 |
A |
G |
17: 35,218,310 (GRCm39) |
V48A |
probably benign |
Het |
Vmn2r1 |
T |
C |
3: 63,994,185 (GRCm39) |
|
probably null |
Het |
Washc2 |
A |
G |
6: 116,224,933 (GRCm39) |
|
probably benign |
Het |
Zfp943 |
A |
G |
17: 22,211,403 (GRCm39) |
D163G |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,031,230 (GRCm39) |
Y626C |
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 |
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 |
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'- TATGACAGATGTGGGTCCCTTC -3'
(R):5'- CCTGGCATGTTATGTAAGCTTAC -3'
Sequencing Primer
(F):5'- GGGTCCCTTCTCCCCCTAAAAG -3'
(R):5'- TATTCGACTTCTAACTGTGAGTGTC -3'
|
Posted On |
2015-03-25 |