Incidental Mutation 'R5992:Corin'
ID 480877
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 # R5992 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 72300025-72504473 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72316389 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 699 (H699L)
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: H840L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: H840L

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: ENSMUST00000167460
AA Change: H774L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: H774L

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 benign
Transcript: ENSMUST00000175766
AA Change: H699L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
AA Change: H699L

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 noncoding transcript
Transcript: ENSMUST00000176396
Predicted Effect probably benign
Transcript: ENSMUST00000176974
AA Change: H737L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
AA Change: H737L

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 benign
Transcript: ENSMUST00000177290
AA Change: H707L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: H707L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,508,623 (GRCm38) L188* probably null Het
Acod1 C T 14: 103,055,035 (GRCm38) R332C probably damaging Het
Adamts3 T A 5: 89,691,335 (GRCm38) K852M probably damaging Het
Adm A T 7: 110,627,696 (GRCm38) probably benign Het
Aff4 A G 11: 53,373,010 (GRCm38) S286G probably damaging Het
Ank2 A G 3: 126,959,651 (GRCm38) probably null Het
Aqr A T 2: 114,143,049 (GRCm38) Y427* probably null Het
Arid1b C A 17: 4,994,956 (GRCm38) probably benign Het
Arpp21 T A 9: 112,143,485 (GRCm38) R259* probably null Het
Cep290 C T 10: 100,543,321 (GRCm38) A55V possibly damaging Het
Chsy3 GT G 18: 59,176,166 (GRCm38) 163 probably null Het
Clcn2 T C 16: 20,713,654 (GRCm38) E68G possibly damaging Het
Cyld T C 8: 88,733,053 (GRCm38) Y446H probably damaging Het
Dcst1 T A 3: 89,352,576 (GRCm38) E613V probably damaging Het
Dlk1 T C 12: 109,455,581 (GRCm38) C74R probably damaging Het
Dnah12 A C 14: 26,697,341 (GRCm38) K128T probably benign Het
Dspp T A 5: 104,178,451 (GRCm38) S893R unknown Het
Dtl A T 1: 191,568,572 (GRCm38) probably null Het
F2rl1 T A 13: 95,514,270 (GRCm38) S35C probably benign Het
Fcgbp A T 7: 28,120,534 (GRCm38) Y2562F probably benign Het
Fgf10 A T 13: 118,715,508 (GRCm38) D42V probably benign Het
Gm10271 A T 10: 116,972,592 (GRCm38) F6L probably damaging Het
Gm21190 T A 5: 15,524,851 (GRCm38) E256D probably damaging Het
Gm5157 A G 7: 21,185,421 (GRCm38) S66P probably damaging Het
Hal T G 10: 93,490,916 (GRCm38) L138R probably damaging Het
Hsd17b3 T C 13: 64,059,470 (GRCm38) probably null Het
Lrrc37 A T 11: 103,613,792 (GRCm38) M2450K possibly damaging Het
Lrsam1 T C 2: 32,955,222 (GRCm38) T94A probably benign Het
Macc1 T C 12: 119,447,585 (GRCm38) V696A probably damaging Het
Magi2 G A 5: 19,227,291 (GRCm38) M1I probably null Het
Marchf7 C A 2: 60,245,220 (GRCm38) N674K probably benign Het
Mfap1b A G 2: 121,470,295 (GRCm38) V34A probably benign Het
Mob3b G A 4: 35,084,069 (GRCm38) S40L probably benign Het
Ndufs2 A T 1: 171,236,418 (GRCm38) V386E probably damaging Het
Nfic C T 10: 81,420,747 (GRCm38) A19T probably damaging Het
Nfs1 G A 2: 156,134,453 (GRCm38) R174W probably damaging Het
Nin G T 12: 70,045,524 (GRCm38) S670R possibly damaging Het
Nrxn1 T C 17: 90,623,507 (GRCm38) I754V probably benign Het
Nwd1 T C 8: 72,653,573 (GRCm38) probably null Het
Or4a39 T A 2: 89,406,879 (GRCm38) M67L probably benign Het
Or4c1 T A 2: 89,303,359 (GRCm38) T78S possibly damaging Het
Or51a6 G T 7: 102,955,009 (GRCm38) N197K probably benign Het
Pcdhgb8 A G 18: 37,763,449 (GRCm38) E524G probably damaging Het
Phlpp1 A T 1: 106,318,993 (GRCm38) R638* probably null Het
Pkmyt1 G C 17: 23,735,326 (GRCm38) W360S probably benign Het
Plxnd1 C A 6: 115,967,787 (GRCm38) probably null Het
Poldip3 A T 15: 83,129,229 (GRCm38) N322K probably damaging Het
Prmt3 A T 7: 49,828,947 (GRCm38) I419L probably benign Het
Prss36 A T 7: 127,944,830 (GRCm38) V123E probably damaging Het
Prss58 A G 6: 40,897,769 (GRCm38) I46T probably damaging Het
Rac1 T C 5: 143,506,998 (GRCm38) probably benign Het
Rb1cc1 A G 1: 6,233,996 (GRCm38) Y36C probably damaging Het
Rif1 C G 2: 52,095,844 (GRCm38) L614V probably damaging Het
Rnd2 C T 11: 101,468,999 (GRCm38) L57F probably damaging Het
Rp1 A T 1: 4,148,703 (GRCm38) F951L unknown Het
Rps6ka5 G T 12: 100,575,250 (GRCm38) P417T possibly damaging Het
Ryr1 A G 7: 29,067,637 (GRCm38) W2967R probably damaging Het
Sacs T A 14: 61,205,543 (GRCm38) S1679R probably damaging Het
Scn1a A C 2: 66,335,456 (GRCm38) W153G probably damaging Het
Serpinb7 A G 1: 107,445,996 (GRCm38) Y114C probably damaging Het
Son T C 16: 91,658,904 (GRCm38) M1513T probably benign Het
Spag8 C T 4: 43,651,534 (GRCm38) V447M probably benign Het
St3gal2 T A 8: 110,969,553 (GRCm38) Y257N probably damaging Het
Tars1 A T 15: 11,397,196 (GRCm38) D40E probably damaging Het
Tlr3 T C 8: 45,397,814 (GRCm38) H158R probably benign Het
Tppp2 G T 14: 51,918,935 (GRCm38) V50L probably benign Het
Trrap T C 5: 144,810,184 (GRCm38) S1503P probably benign Het
Ttll4 T G 1: 74,685,391 (GRCm38) S573R probably damaging Het
Vmn2r104 A T 17: 20,029,485 (GRCm38) N841K probably damaging Het
Vmn2r3 A T 3: 64,259,647 (GRCm38) C688S probably damaging Het
Vps16 T C 2: 130,424,449 (GRCm38) probably null Het
Zfp608 G A 18: 54,899,248 (GRCm38) T540I probably benign Het
Zfp775 G A 6: 48,619,816 (GRCm38) R208Q 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
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
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'- TTGTTCATTCGGGCAGCAG -3'
(R):5'- TATATGCTTCCGCTGTGGTC -3'

Sequencing Primer
(F):5'- CGGCCACAGTCTAACAAGGATG -3'
(R):5'- CCGCTGTGGTCTCCAAC -3'
Posted On 2017-06-26