Incidental Mutation 'R0724:Corin'
ID 63809
Institutional Source Beutler Lab
Gene Symbol Corin
Ensembl Gene ENSMUSG00000005220
Gene Name corin
Synonyms Lrp4
MMRRC Submission 038906-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R0724 (G1)
Quality Score 109
Status Validated
Chromosome 5
Chromosomal Location 72300025-72504473 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 72332795 bp (GRCm38)
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

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
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 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 noncoding transcript
Transcript: ENSMUST00000176396
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 probably benign
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 100% (62/62)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 145,044,763 (GRCm38) E136G probably benign Het
Adgre4 T A 17: 55,852,281 (GRCm38) S655R probably benign Het
Ak7 T A 12: 105,710,254 (GRCm38) V71E probably benign Het
Ank2 C T 3: 126,962,337 (GRCm38) R1077H probably damaging Het
Anxa3 A G 5: 96,828,748 (GRCm38) T198A possibly damaging Het
Atp1a1 A T 3: 101,592,439 (GRCm38) I109N possibly damaging Het
Camta1 A G 4: 151,077,892 (GRCm38) I119T probably damaging Het
Carm1 A G 9: 21,587,374 (GRCm38) Y504C probably damaging Het
Casp1 C T 9: 5,303,077 (GRCm38) P177L probably benign Het
Ccdc122 C A 14: 77,092,077 (GRCm38) probably benign Het
Ces1a A G 8: 93,039,513 (GRCm38) S158P probably damaging Het
Ces3a T A 8: 105,050,195 (GRCm38) D103E possibly damaging Het
Clstn1 A C 4: 149,643,624 (GRCm38) D583A possibly damaging Het
Cryba1 T C 11: 77,719,457 (GRCm38) D144G probably damaging Het
Cwf19l2 G T 9: 3,421,377 (GRCm38) probably null Het
Dis3l T C 9: 64,307,126 (GRCm38) T1027A possibly damaging Het
Dopey2 A G 16: 93,762,325 (GRCm38) E653G probably benign Het
Dst A G 1: 34,188,677 (GRCm38) I1459V probably benign Het
Dyrk3 T C 1: 131,130,140 (GRCm38) T64A probably benign Het
Emp2 C T 16: 10,284,615 (GRCm38) C111Y probably benign Het
Enam A G 5: 88,501,994 (GRCm38) Y454C probably damaging Het
Fbn1 A T 2: 125,352,064 (GRCm38) C1328S probably benign Het
Gata3 T C 2: 9,874,575 (GRCm38) T197A probably benign Het
Gm1043 A G 5: 37,187,229 (GRCm38) T212A probably damaging Het
Gm15448 T C 7: 3,816,872 (GRCm38) N564S possibly damaging Het
H2-Eb1 T C 17: 34,315,032 (GRCm38) probably benign Het
Hand1 T C 11: 57,831,680 (GRCm38) H36R probably damaging Het
Hmgcs2 C A 3: 98,297,001 (GRCm38) Y239* probably null Het
Hoxc12 A G 15: 102,937,055 (GRCm38) Y68C probably damaging Het
Inpp5a A G 7: 139,516,663 (GRCm38) I143V probably benign Het
Klhdc2 C A 12: 69,297,048 (GRCm38) F18L probably benign Het
Kpnb1 T C 11: 97,178,304 (GRCm38) Y251C probably damaging Het
Lrch4 A T 5: 137,637,308 (GRCm38) N315I probably damaging Het
Map3k10 A C 7: 27,668,355 (GRCm38) V286G probably damaging Het
Myo7b G A 18: 32,005,549 (GRCm38) probably benign Het
Nlrp2 G T 7: 5,319,222 (GRCm38) L809I probably damaging Het
Oacyl T C 18: 65,737,825 (GRCm38) probably benign Het
Olfr735 A G 14: 50,345,917 (GRCm38) V175A possibly damaging Het
Paxbp1 T A 16: 91,036,536 (GRCm38) D270V probably damaging Het
Pdia3 G A 2: 121,432,377 (GRCm38) G275S probably damaging Het
Plcb3 G A 19: 6,963,392 (GRCm38) R359C probably damaging Het
Plcxd3 G A 15: 4,516,868 (GRCm38) S118N probably damaging Het
Ptpn14 T C 1: 189,850,947 (GRCm38) S664P possibly damaging Het
Sirt1 T C 10: 63,323,973 (GRCm38) I443V possibly damaging Het
Slc7a8 G A 14: 54,735,186 (GRCm38) probably benign Het
Smim14 A G 5: 65,453,339 (GRCm38) probably benign Het
Sost C T 11: 101,966,918 (GRCm38) C19Y probably benign Het
Tcaf1 G T 6: 42,675,367 (GRCm38) A727E probably damaging Het
Thoc1 T C 18: 9,963,829 (GRCm38) L144P probably damaging Het
Tmem132b A T 5: 125,783,421 (GRCm38) T577S possibly damaging Het
Tnfrsf21 C T 17: 43,038,213 (GRCm38) H239Y probably benign Het
Tshr T C 12: 91,538,286 (GRCm38) F666S probably damaging Het
Wdr1 A G 5: 38,540,862 (GRCm38) V192A possibly damaging Het
Zfp697 T C 3: 98,428,166 (GRCm38) W416R 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
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
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'- CGAACCCAGATCAAATAACTCAGGAGTG -3'
(R):5'- CAGAATGGAGACTGCCGTGAGC -3'

Sequencing Primer
(F):5'- CATTTTGGATACTAGCATGAGGTC -3'
(R):5'- GCTCCTACTTTCAGAATCACACG -3'
Posted On 2013-07-30