Incidental Mutation 'R1466:Corin'
ID 166033
Institutional Source Beutler Lab
Gene Symbol Corin
Ensembl Gene ENSMUSG00000005220
Gene Name corin
Synonyms Lrp4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R1466 (G1)
Quality Score 173
Status Not validated
Chromosome 5
Chromosomal Location 72300025-72504473 bp(-) (GRCm38)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 72302790 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005352] [ENSMUST00000094710] [ENSMUST00000126664] [ENSMUST00000167460] [ENSMUST00000175766] [ENSMUST00000176974] [ENSMUST00000177290]
AlphaFold Q9Z319
Predicted Effect probably null
Transcript: ENSMUST00000005352
SMART Domains Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220

DomainStartEndE-ValueType
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: ENSMUST00000094710
SMART Domains Protein: ENSMUSP00000142749
Gene: ENSMUSG00000046808

DomainStartEndE-ValueType
SCOP:d1eula_ 5 180 9e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126664
SMART Domains Protein: ENSMUSP00000143594
Gene: ENSMUSG00000046808

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 111 176 1.2e-21 PFAM
Pfam:E1-E2_ATPase 181 450 3e-10 PFAM
low complexity region 523 534 N/A INTRINSIC
low complexity region 684 696 N/A INTRINSIC
Pfam:Cation_ATPase 739 859 3.4e-7 PFAM
Pfam:HAD 754 1114 1.3e-12 PFAM
Pfam:PhoLip_ATPase_C 1131 1376 4.3e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158570
Predicted Effect probably null
Transcript: ENSMUST00000167460
SMART Domains Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000175766
SMART Domains Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000176974
SMART Domains Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000177290
SMART Domains Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220

DomainStartEndE-ValueType
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 0.9470 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.9%
  • 10x: 90.8%
  • 20x: 71.5%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C T 11: 77,515,410 (GRCm38) A71V probably damaging Het
Adamts12 T C 15: 11,311,359 (GRCm38) F1234S probably benign Het
Ahnak A G 19: 9,015,875 (GRCm38) D4841G probably damaging Het
Akap13 T C 7: 75,729,049 (GRCm38) S2095P possibly damaging Het
Ampd2 T C 3: 108,080,337 (GRCm38) probably null Het
Arhgef17 G T 7: 100,929,659 (GRCm38) P694Q possibly damaging Het
Arrdc1 T C 2: 24,925,795 (GRCm38) I398V probably benign Het
Ash1l T C 3: 89,052,065 (GRCm38) Y2250H probably damaging Het
Aspg A G 12: 112,121,852 (GRCm38) N385D probably benign Het
Atxn3 G A 12: 101,926,499 (GRCm38) R319C possibly damaging Het
BC005561 T A 5: 104,518,257 (GRCm38) I215N probably damaging Het
Brca2 G A 5: 150,552,258 (GRCm38) A2478T probably damaging Het
C1s1 C T 6: 124,531,131 (GRCm38) C633Y probably damaging Het
C8g C T 2: 25,500,216 (GRCm38) A6T probably benign Het
Cbl A T 9: 44,154,244 (GRCm38) V706E probably benign Het
Cfhr1 C T 1: 139,557,574 (GRCm38) E45K probably benign Het
Chd7 G A 4: 8,840,561 (GRCm38) probably null Het
Chek1 G T 9: 36,725,857 (GRCm38) A2E probably damaging Het
Cntnap1 C A 11: 101,180,360 (GRCm38) F366L probably damaging Het
Crb2 T C 2: 37,783,388 (GRCm38) Y99H probably damaging Het
Ctdspl2 G A 2: 122,003,929 (GRCm38) R332K probably benign Het
Cym G A 3: 107,213,458 (GRCm38) T277I probably damaging Het
Cyp2d11 C T 15: 82,391,735 (GRCm38) C215Y probably benign Het
Dido1 G A 2: 180,662,328 (GRCm38) P1261L probably damaging Het
Dnah10 T A 5: 124,763,096 (GRCm38) Y1265N probably benign Het
Dtx3l G A 16: 35,932,728 (GRCm38) L503F probably damaging Het
Efhb A G 17: 53,437,178 (GRCm38) F462L probably damaging Het
Enpep T A 3: 129,319,448 (GRCm38) T203S probably damaging Het
Fat3 A C 9: 16,375,482 (GRCm38) V915G probably damaging Het
Fbln7 A G 2: 128,877,429 (GRCm38) T49A probably benign Het
Fcho1 C T 8: 71,712,560 (GRCm38) A418T probably benign Het
Fgf14 T A 14: 124,676,539 (GRCm38) K60M probably benign Het
Galnt4 A G 10: 99,108,709 (GRCm38) R99G probably benign Het
Gimap4 C A 6: 48,691,282 (GRCm38) Q196K probably benign Het
Glcci1 C T 6: 8,537,964 (GRCm38) T6I probably damaging Het
Gm10110 A T 14: 89,898,075 (GRCm38) noncoding transcript Het
Gm4884 A G 7: 41,043,128 (GRCm38) K174E probably damaging Het
Gm6583 C T 5: 112,354,764 (GRCm38) G358D probably benign Het
Grip2 A T 6: 91,788,443 (GRCm38) D19E probably damaging Het
Grk4 T C 5: 34,694,750 (GRCm38) S113P probably benign Het
Hectd3 G A 4: 116,996,566 (GRCm38) E220K probably damaging Het
Helz2 G A 2: 181,236,297 (GRCm38) P903S probably damaging Het
Hydin T A 8: 110,532,953 (GRCm38) V2519E possibly damaging Het
Ints11 G A 4: 155,888,110 (GRCm38) probably null Het
Kif1a A G 1: 93,054,929 (GRCm38) W718R possibly damaging Het
Kif1b A T 4: 149,223,252 (GRCm38) Y839N probably damaging Het
Kif20b T A 19: 34,950,599 (GRCm38) V1047D probably benign Het
Klhl23 T C 2: 69,833,888 (GRCm38) I527T probably damaging Het
Klra10 T A 6: 130,279,315 (GRCm38) R125S probably damaging Het
Klra10 T C 6: 130,279,431 (GRCm38) N87D probably damaging Het
Lars G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Lcn4 G A 2: 26,668,576 (GRCm38) P166L probably damaging Het
Letmd1 T A 15: 100,472,542 (GRCm38) probably null Het
Map4k2 G T 19: 6,341,917 (GRCm38) W87L probably damaging Het
Mccc1 A G 3: 35,974,286 (GRCm38) V457A probably benign Het
Mdn1 T A 4: 32,730,788 (GRCm38) S2886T probably benign Het
Mroh2b G T 15: 4,925,684 (GRCm38) D720Y probably damaging Het
Mrpl24 T A 3: 87,921,928 (GRCm38) Y21* probably null Het
Mrps35 C T 6: 147,055,984 (GRCm38) T169M probably damaging Het
Mtcl1 T A 17: 66,380,435 (GRCm38) D492V probably damaging Het
Muc2 A G 7: 141,748,974 (GRCm38) Y457C probably damaging Het
Muc4 G A 16: 32,753,595 (GRCm38) G1157D probably benign Het
Myg1 T A 15: 102,337,390 (GRCm38) L275Q probably damaging Het
Naga T A 15: 82,334,788 (GRCm38) M237L probably null Het
Oc90 T A 15: 65,897,720 (GRCm38) Y96F probably damaging Het
Olfr1029 T A 2: 85,975,995 (GRCm38) F251I probably damaging Het
Olfr103 A T 17: 37,336,956 (GRCm38) L92H probably benign Het
Olfr1253 C T 2: 89,752,267 (GRCm38) C187Y probably damaging Het
Olfr46 A G 7: 140,610,969 (GRCm38) I268V probably benign Het
Olfr522 A G 7: 140,162,203 (GRCm38) V249A probably damaging Het
Orc4 A T 2: 48,909,494 (GRCm38) C324S possibly damaging Het
Pcdh10 T G 3: 45,379,974 (GRCm38) L241R probably damaging Het
Pdzrn4 T C 15: 92,770,537 (GRCm38) S857P probably benign Het
Plec C T 15: 76,185,908 (GRCm38) E1000K possibly damaging Het
Plvap A T 8: 71,508,481 (GRCm38) V149D probably benign Het
Ppef1 C A X: 160,625,674 (GRCm38) probably null Het
Prkaa1 C A 15: 5,178,798 (GRCm38) P507T probably benign Het
Ptch1 A G 13: 63,524,969 (GRCm38) Y804H probably benign Het
R3hdm2 A G 10: 127,476,690 (GRCm38) I434V probably benign Het
Rfx5 T A 3: 94,956,303 (GRCm38) Y88N probably damaging Het
Rnase2b A T 14: 51,162,839 (GRCm38) K126* probably null Het
Rpl3l A G 17: 24,730,871 (GRCm38) I15V probably benign Het
Saal1 G T 7: 46,702,545 (GRCm38) probably null Het
Sbpl A C 17: 23,953,254 (GRCm38) D230E unknown Het
Scn10a T C 9: 119,666,490 (GRCm38) Y322C probably damaging Het
Sec16a A T 2: 26,431,157 (GRCm38) Y1308N probably damaging Het
Sis A T 3: 72,932,060 (GRCm38) D824E possibly damaging Het
Slc25a36 A G 9: 97,080,355 (GRCm38) F194L probably damaging Het
Slc27a4 T A 2: 29,811,190 (GRCm38) V331E probably damaging Het
Slc7a11 G T 3: 50,381,073 (GRCm38) probably null Het
Slco4c1 A T 1: 96,841,172 (GRCm38) S322T probably damaging Het
Smarcc2 A T 10: 128,474,245 (GRCm38) T376S probably damaging Het
Srebf1 C T 11: 60,200,702 (GRCm38) R999H probably benign Het
St3gal3 A C 4: 118,107,662 (GRCm38) M1R probably null Het
Syp A T X: 7,648,705 (GRCm38) probably benign Het
Tas1r2 A G 4: 139,669,411 (GRCm38) D687G probably damaging Het
Tekt4 A T 17: 25,472,074 (GRCm38) Q118L probably benign Het
Tph2 T C 10: 115,079,695 (GRCm38) N480S probably benign Het
Tsc2 A T 17: 24,608,973 (GRCm38) M839K probably damaging Het
Ttc22 T C 4: 106,622,780 (GRCm38) F77S probably damaging Het
Uaca C T 9: 60,854,321 (GRCm38) A205V possibly damaging Het
Uhmk1 A T 1: 170,208,653 (GRCm38) probably null Het
Usp17lc A G 7: 103,418,941 (GRCm38) H481R possibly damaging Het
Vwa3a A G 7: 120,768,165 (GRCm38) Y181C probably damaging Het
Wfikkn2 G A 11: 94,238,895 (GRCm38) T140I probably damaging Het
Zfp704 G T 3: 9,447,348 (GRCm38) T288N possibly damaging Het
Zfp93 T C 7: 24,276,096 (GRCm38) V502A probably damaging Het
Zzef1 C T 11: 72,924,679 (GRCm38) P2942S probably damaging Het
Other mutations in Corin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Corin APN 5 72,304,888 (GRCm38) missense probably damaging 1.00
IGL01114:Corin APN 5 72,305,011 (GRCm38) missense probably damaging 1.00
IGL01351:Corin APN 5 72,338,991 (GRCm38) missense probably damaging 1.00
IGL01516:Corin APN 5 72,454,487 (GRCm38) nonsense probably null
IGL01785:Corin APN 5 72,339,876 (GRCm38) missense probably damaging 1.00
IGL01786:Corin APN 5 72,339,876 (GRCm38) missense probably damaging 1.00
IGL01845:Corin APN 5 72,353,939 (GRCm38) missense probably damaging 1.00
IGL02097:Corin APN 5 72,372,146 (GRCm38) missense probably damaging 1.00
IGL02629:Corin APN 5 72,332,673 (GRCm38) missense probably damaging 1.00
IGL03085:Corin APN 5 72,353,930 (GRCm38) missense probably damaging 1.00
IGL03120:Corin APN 5 72,360,689 (GRCm38) missense probably damaging 1.00
IGL03150:Corin APN 5 72,302,858 (GRCm38) missense probably damaging 1.00
IGL03183:Corin APN 5 72,301,586 (GRCm38) missense probably damaging 0.99
IGL03185:Corin APN 5 72,332,781 (GRCm38) missense probably damaging 1.00
IGL03408:Corin APN 5 72,342,961 (GRCm38) missense probably benign 0.40
alpaca UTSW 5 72,503,952 (GRCm38) missense possibly damaging 0.85
R0078:Corin UTSW 5 72,454,473 (GRCm38) missense possibly damaging 0.77
R0724:Corin UTSW 5 72,332,795 (GRCm38) splice site probably benign
R1065:Corin UTSW 5 72,301,650 (GRCm38) nonsense probably null
R1301:Corin UTSW 5 72,304,933 (GRCm38) missense possibly damaging 0.81
R1466:Corin UTSW 5 72,302,790 (GRCm38) critical splice donor site probably null
R1520:Corin UTSW 5 72,330,895 (GRCm38) missense probably damaging 1.00
R1584:Corin UTSW 5 72,302,790 (GRCm38) critical splice donor site probably null
R1617:Corin UTSW 5 72,503,952 (GRCm38) missense possibly damaging 0.85
R1912:Corin UTSW 5 72,358,403 (GRCm38) missense probably damaging 1.00
R2059:Corin UTSW 5 72,316,051 (GRCm38) missense possibly damaging 0.76
R2173:Corin UTSW 5 72,504,079 (GRCm38) missense probably benign 0.01
R2242:Corin UTSW 5 72,332,711 (GRCm38) missense probably damaging 1.00
R2373:Corin UTSW 5 72,339,038 (GRCm38) missense probably damaging 1.00
R2850:Corin UTSW 5 72,304,955 (GRCm38) missense probably damaging 1.00
R3683:Corin UTSW 5 72,330,855 (GRCm38) missense probably damaging 1.00
R3684:Corin UTSW 5 72,330,855 (GRCm38) missense probably damaging 1.00
R3790:Corin UTSW 5 72,435,298 (GRCm38) missense probably benign 0.38
R3847:Corin UTSW 5 72,422,165 (GRCm38) missense probably benign 0.13
R3926:Corin UTSW 5 72,372,130 (GRCm38) missense probably damaging 1.00
R3939:Corin UTSW 5 72,339,879 (GRCm38) missense possibly damaging 0.80
R3945:Corin UTSW 5 72,358,424 (GRCm38) missense probably damaging 1.00
R4079:Corin UTSW 5 72,503,883 (GRCm38) missense probably benign 0.03
R4224:Corin UTSW 5 72,343,108 (GRCm38) missense probably damaging 1.00
R4473:Corin UTSW 5 72,339,057 (GRCm38) missense probably damaging 1.00
R4585:Corin UTSW 5 72,329,699 (GRCm38) missense probably damaging 1.00
R4586:Corin UTSW 5 72,329,699 (GRCm38) missense probably damaging 1.00
R4849:Corin UTSW 5 72,302,835 (GRCm38) missense probably damaging 1.00
R4926:Corin UTSW 5 72,372,182 (GRCm38) missense probably damaging 1.00
R5080:Corin UTSW 5 72,353,851 (GRCm38) intron probably benign
R5138:Corin UTSW 5 72,339,059 (GRCm38) missense probably damaging 1.00
R5262:Corin UTSW 5 72,304,955 (GRCm38) missense probably damaging 1.00
R5268:Corin UTSW 5 72,343,019 (GRCm38) missense probably damaging 1.00
R5302:Corin UTSW 5 72,316,098 (GRCm38) missense probably benign 0.07
R5307:Corin UTSW 5 72,356,978 (GRCm38) missense probably damaging 1.00
R5324:Corin UTSW 5 72,435,257 (GRCm38) missense probably damaging 1.00
R5352:Corin UTSW 5 72,305,033 (GRCm38) missense probably benign 0.04
R5373:Corin UTSW 5 72,304,953 (GRCm38) missense probably damaging 1.00
R5374:Corin UTSW 5 72,304,953 (GRCm38) missense probably damaging 1.00
R5484:Corin UTSW 5 72,358,484 (GRCm38) missense probably benign 0.15
R5502:Corin UTSW 5 72,316,106 (GRCm38) nonsense probably null
R5544:Corin UTSW 5 72,305,014 (GRCm38) nonsense probably null
R5682:Corin UTSW 5 72,422,154 (GRCm38) missense possibly damaging 0.85
R5818:Corin UTSW 5 72,435,395 (GRCm38) missense probably benign 0.00
R5992:Corin UTSW 5 72,316,389 (GRCm38) missense probably benign 0.01
R6115:Corin UTSW 5 72,360,729 (GRCm38) missense probably damaging 1.00
R6181:Corin UTSW 5 72,372,096 (GRCm38) critical splice donor site probably null
R6317:Corin UTSW 5 72,339,045 (GRCm38) missense probably damaging 1.00
R7053:Corin UTSW 5 72,301,527 (GRCm38) missense probably benign 0.28
R7242:Corin UTSW 5 72,305,055 (GRCm38) missense probably benign 0.14
R7452:Corin UTSW 5 72,435,247 (GRCm38) missense possibly damaging 0.94
R7783:Corin UTSW 5 72,301,624 (GRCm38) missense probably benign 0.26
R7903:Corin UTSW 5 72,301,500 (GRCm38) missense probably benign 0.00
R7956:Corin UTSW 5 72,422,187 (GRCm38) missense probably damaging 0.99
R8007:Corin UTSW 5 72,316,103 (GRCm38) missense probably damaging 0.96
R8125:Corin UTSW 5 72,358,463 (GRCm38) missense probably damaging 0.96
R8215:Corin UTSW 5 72,305,018 (GRCm38) missense probably damaging 1.00
R8251:Corin UTSW 5 72,356,926 (GRCm38) missense probably damaging 1.00
R8364:Corin UTSW 5 72,304,931 (GRCm38) missense probably benign
R8505:Corin UTSW 5 72,435,407 (GRCm38) missense probably benign 0.21
R8746:Corin UTSW 5 72,435,352 (GRCm38) missense probably benign 0.31
R8887:Corin UTSW 5 72,329,610 (GRCm38) critical splice donor site probably null
R9484:Corin UTSW 5 72,339,937 (GRCm38) missense probably damaging 1.00
R9640:Corin UTSW 5 72,435,254 (GRCm38) missense probably benign
Z1177:Corin UTSW 5 72,454,493 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGTTATACATGGCAATGCCCTCTG -3'
(R):5'- CTTTGAACGCAGTGCCCTTTAAGC -3'

Sequencing Primer
(F):5'- CTGCTTAAGACAGTGGATTTGAAG -3'
(R):5'- GATCTGTGCTGGCTATGAGT -3'
Posted On 2014-03-28