Incidental Mutation 'R8125:Corin'
ID 631695
Institutional Source Beutler Lab
Gene Symbol Corin
Ensembl Gene ENSMUSG00000005220
Gene Name corin, serine peptidase
Synonyms Lrp4
MMRRC Submission 067554-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R8125 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 72457368-72661816 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72515806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 416 (H416L)
Ref Sequence ENSEMBL: ENSMUSP00000005352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005352] [ENSMUST00000167460] [ENSMUST00000175766] [ENSMUST00000176974] [ENSMUST00000177290]
AlphaFold Q9Z319
Predicted Effect probably damaging
Transcript: ENSMUST00000005352
AA Change: H416L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
AA Change: H416L

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 damaging
Transcript: ENSMUST00000167460
AA Change: H350L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
AA Change: H350L

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
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 benign
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 possibly damaging
Transcript: ENSMUST00000177290
AA Change: H283L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
AA Change: H283L

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: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 97.0%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,608,709 (GRCm39) T143K probably benign Het
4933434E20Rik T A 3: 89,972,818 (GRCm39) V74D possibly damaging Het
Acot11 C T 4: 106,617,277 (GRCm39) probably null Het
Adam20 A T 8: 41,247,973 (GRCm39) I28L probably benign Het
Adamtsl3 A G 7: 82,099,541 (GRCm39) probably null Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ahnak C T 19: 8,989,240 (GRCm39) A3508V possibly damaging Het
Arhgap20 T C 9: 51,738,209 (GRCm39) I235T probably damaging Het
B4galnt3 T C 6: 120,201,554 (GRCm39) T164A probably damaging Het
Brip1 A G 11: 86,077,817 (GRCm39) S204P possibly damaging Het
Ccdc185 C A 1: 182,574,835 (GRCm39) S618I probably benign Het
Ckap5 T A 2: 91,406,614 (GRCm39) I805K probably damaging Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Cmtm2a A T 8: 105,019,343 (GRCm39) I82N probably damaging Het
Csnk2a2 G A 8: 96,182,575 (GRCm39) P296L Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Dchs1 T C 7: 105,414,089 (GRCm39) T909A possibly damaging Het
Ddx60 C T 8: 62,436,945 (GRCm39) A965V probably benign Het
Dmbt1 A G 7: 130,700,953 (GRCm39) T1218A unknown Het
Ebf1 T C 11: 44,863,742 (GRCm39) I364T probably damaging Het
Efcab10 C A 12: 33,448,313 (GRCm39) R49S probably damaging Het
Eif2b1 G A 5: 124,717,162 (GRCm39) probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gm49358 T A 10: 86,656,857 (GRCm39) F273Y Het
Gria2 T A 3: 80,614,550 (GRCm39) I497F possibly damaging Het
Ipo9 T C 1: 135,331,078 (GRCm39) T426A probably benign Het
Klhl11 T C 11: 100,354,811 (GRCm39) I337V probably benign Het
Krtap19-5 A T 16: 88,693,236 (GRCm39) Y25* probably null Het
Lamb2 T G 9: 108,364,722 (GRCm39) S1159A probably benign Het
Mpig6b A T 17: 35,284,328 (GRCm39) L154Q probably damaging Het
Mrpl28 T C 17: 26,343,594 (GRCm39) I118T probably damaging Het
Msh3 A T 13: 92,435,690 (GRCm39) N536K probably benign Het
Mtcl3 T C 10: 29,072,894 (GRCm39) S729P probably damaging Het
Myh8 A G 11: 67,190,598 (GRCm39) K1308E possibly damaging Het
Nav3 C A 10: 109,688,520 (GRCm39) G586W probably damaging Het
Ncoa7 T C 10: 30,570,087 (GRCm39) K291E possibly damaging Het
Nr5a1 C T 2: 38,591,993 (GRCm39) V327I probably damaging Het
Nup85 TACAAGACAA TACAA 11: 115,469,063 (GRCm39) probably null Het
Or1o4 A T 17: 37,590,935 (GRCm39) H125Q probably benign Het
Or4f4-ps1 A T 2: 111,330,332 (GRCm39) D245V possibly damaging Het
Or4g17 T C 2: 111,210,086 (GRCm39) V247A probably damaging Het
Pard3b T C 1: 61,807,143 (GRCm39) Y53H probably damaging Het
Pcyox1l G A 18: 61,840,576 (GRCm39) P26L unknown Het
Pdzrn4 A G 15: 92,641,476 (GRCm39) S391G probably damaging Het
Pfn4 T A 12: 4,825,487 (GRCm39) M108K probably damaging Het
Pibf1 C T 14: 99,416,803 (GRCm39) Q459* probably null Het
Pkd1l1 C T 11: 8,897,241 (GRCm39) C556Y probably damaging Het
Plin1 A G 7: 79,379,599 (GRCm39) F84L possibly damaging Het
Rasa3 A G 8: 13,627,801 (GRCm39) probably null Het
Sdc1 G A 12: 8,840,663 (GRCm39) V143I probably benign Het
Skic3 T C 13: 76,278,446 (GRCm39) probably null Het
Skor2 C A 18: 76,947,373 (GRCm39) A365E unknown Het
Slc16a7 A G 10: 125,164,202 (GRCm39) probably null Het
Slc25a31 T A 3: 40,663,573 (GRCm39) V51E probably damaging Het
Slc6a6 C A 6: 91,703,087 (GRCm39) F153L probably damaging Het
Snx7 T A 3: 117,630,894 (GRCm39) K238M probably damaging Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
Spata31f3 A G 4: 42,873,051 (GRCm39) L80P probably damaging Het
Sphkap T G 1: 83,241,303 (GRCm39) Q1587P probably damaging Het
Tcte1 T C 17: 45,850,618 (GRCm39) I298T possibly damaging Het
Tmem247 A G 17: 87,229,795 (GRCm39) Y120C Het
Togaram2 C G 17: 72,023,489 (GRCm39) L802V probably benign Het
Trim32 T C 4: 65,532,199 (GRCm39) V252A probably benign Het
Ube2q2l T G 6: 136,378,184 (GRCm39) R215S possibly damaging Het
Vat1 T C 11: 101,351,029 (GRCm39) K404R probably benign Het
Xirp2 C A 2: 67,342,379 (GRCm39) T1540K probably benign Het
Zc2hc1c C T 12: 85,343,386 (GRCm39) H508Y probably damaging Het
Zfp407 A T 18: 84,579,310 (GRCm39) M601K probably damaging Het
Zfp951 A T 5: 104,963,169 (GRCm39) Y132* probably null Het
Other mutations in Corin
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TAAGAGCCATCCTCCCTGAGTG -3'
(R):5'- AGATGAGTCTTTGCCTTCAGGG -3'

Sequencing Primer
(F):5'- CCCTGAGTGCTGTTTACATAATGGAC -3'
(R):5'- CTGACACTGGTAGAAAGTAGCATTTG -3'
Posted On 2020-06-30