Incidental Mutation 'IGL00272:Habp2'
ID 11204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Habp2
Ensembl Gene ENSMUSG00000025075
Gene Name hyaluronic acid binding protein 2
Synonyms FSAP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL00272
Quality Score
Status
Chromosome 19
Chromosomal Location 56275569-56309254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56306264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 482 (C482Y)
Ref Sequence ENSEMBL: ENSMUSP00000132444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040711] [ENSMUST00000073536] [ENSMUST00000078284] [ENSMUST00000095947] [ENSMUST00000095948] [ENSMUST00000163502] [ENSMUST00000166049] [ENSMUST00000165522] [ENSMUST00000171341] [ENSMUST00000167239] [ENSMUST00000166203]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040711
SMART Domains Protein: ENSMUSP00000048364
Gene: ENSMUSG00000049134

DomainStartEndE-ValueType
LIM 5 57 5.39e-11 SMART
NEBU 64 94 2.17e1 SMART
NEBU 168 197 1.94e-4 SMART
NEBU 202 232 1.39e-5 SMART
NEBU 239 268 2.23e-4 SMART
NEBU 308 337 2.83e-6 SMART
NEBU 346 376 3.82e-3 SMART
NEBU 382 412 1.18e-3 SMART
NEBU 450 480 8.97e-9 SMART
NEBU 485 515 1.73e-10 SMART
NEBU 521 551 8.12e-7 SMART
NEBU 555 585 1.73e-1 SMART
NEBU 590 620 2.33e-7 SMART
NEBU 621 651 1.49e-5 SMART
NEBU 655 686 5.12e-4 SMART
NEBU 689 719 8.12e-7 SMART
NEBU 724 754 2.64e-6 SMART
NEBU 760 790 3.48e-6 SMART
NEBU 798 828 2.35e-3 SMART
NEBU 833 863 6.11e-2 SMART
NEBU 864 894 1.69e-4 SMART
NEBU 899 929 3.88e-4 SMART
NEBU 932 962 4e-6 SMART
NEBU 967 997 4.22e-5 SMART
NEBU 1003 1033 2.64e-6 SMART
NEBU 1041 1071 3.68e-5 SMART
NEBU 1076 1106 4.16e-4 SMART
NEBU 1107 1137 1.1e-3 SMART
NEBU 1142 1172 1.68e1 SMART
NEBU 1175 1205 4.59e-6 SMART
NEBU 1210 1240 4.06e-7 SMART
NEBU 1246 1276 1.99e-1 SMART
NEBU 1284 1314 1.85e-1 SMART
NEBU 1319 1349 1.39e-5 SMART
NEBU 1350 1380 4.03e-2 SMART
NEBU 1385 1415 1.76e-2 SMART
NEBU 1418 1448 2.09e0 SMART
NEBU 1453 1483 6.4e-5 SMART
NEBU 1489 1519 8.63e-1 SMART
NEBU 1527 1557 1.33e-2 SMART
NEBU 1562 1592 1.84e-5 SMART
NEBU 1593 1623 7.24e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000073536
SMART Domains Protein: ENSMUSP00000073228
Gene: ENSMUSG00000049134

DomainStartEndE-ValueType
LIM 5 57 5.39e-11 SMART
NEBU 64 94 2.17e1 SMART
NEBU 168 197 1.94e-4 SMART
NEBU 202 232 1.39e-5 SMART
NEBU 239 268 2.23e-4 SMART
NEBU 308 337 2.83e-6 SMART
NEBU 346 376 7.24e-4 SMART
NEBU 381 411 3.46e-1 SMART
NEBU 417 447 1.18e-3 SMART
NEBU 485 515 8.97e-9 SMART
NEBU 520 550 1.73e-10 SMART
NEBU 556 586 8.12e-7 SMART
NEBU 590 620 1.73e-1 SMART
NEBU 625 655 2.33e-7 SMART
NEBU 656 686 1.49e-5 SMART
NEBU 690 721 5.12e-4 SMART
NEBU 724 754 8.12e-7 SMART
NEBU 759 789 2.64e-6 SMART
NEBU 795 825 3.48e-6 SMART
NEBU 833 863 2.35e-3 SMART
NEBU 868 898 6.11e-2 SMART
NEBU 899 929 1.69e-4 SMART
NEBU 934 964 3.88e-4 SMART
NEBU 967 997 4e-6 SMART
NEBU 1002 1032 4.22e-5 SMART
NEBU 1038 1068 2.64e-6 SMART
NEBU 1076 1106 3.68e-5 SMART
NEBU 1111 1141 4.16e-4 SMART
NEBU 1142 1172 1.1e-3 SMART
NEBU 1177 1207 1.68e1 SMART
NEBU 1210 1240 4.59e-6 SMART
NEBU 1245 1275 4.06e-7 SMART
NEBU 1281 1311 1.99e-1 SMART
NEBU 1319 1349 1.85e-1 SMART
NEBU 1354 1384 1.39e-5 SMART
NEBU 1385 1415 4.03e-2 SMART
NEBU 1420 1450 1.76e-2 SMART
NEBU 1453 1483 2.09e0 SMART
NEBU 1488 1518 6.4e-5 SMART
NEBU 1524 1554 8.63e-1 SMART
NEBU 1562 1592 1.33e-2 SMART
NEBU 1597 1627 1.84e-5 SMART
NEBU 1628 1658 7.24e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078284
AA Change: C487Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075
AA Change: C487Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
Tryp_SPc 307 544 1.47e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095947
SMART Domains Protein: ENSMUSP00000093640
Gene: ENSMUSG00000049134

DomainStartEndE-ValueType
NEBU 86 115 1.2e-6 SMART
NEBU 120 150 9.1e-8 SMART
NEBU 157 186 1.4e-6 SMART
NEBU 226 255 1.8e-8 SMART
NEBU 264 294 2.5e-5 SMART
NEBU 300 330 7.8e-6 SMART
NEBU 368 398 6e-11 SMART
NEBU 403 433 1.1e-12 SMART
NEBU 439 469 5.2e-9 SMART
NEBU 473 503 1.1e-3 SMART
NEBU 508 538 1.5e-9 SMART
NEBU 539 569 1e-7 SMART
NEBU 573 604 3.3e-6 SMART
NEBU 607 637 5.4e-9 SMART
NEBU 642 672 1.7e-8 SMART
NEBU 678 708 2.3e-8 SMART
NEBU 716 746 1.5e-5 SMART
NEBU 751 781 4.1e-4 SMART
NEBU 782 812 1.1e-6 SMART
NEBU 817 847 2.6e-6 SMART
NEBU 850 880 2.6e-8 SMART
NEBU 885 915 2.7e-7 SMART
NEBU 921 951 1.7e-8 SMART
NEBU 959 989 2.4e-7 SMART
NEBU 994 1024 2.7e-6 SMART
NEBU 1025 1055 7.2e-6 SMART
NEBU 1060 1090 1.1e-1 SMART
NEBU 1093 1123 3e-8 SMART
NEBU 1128 1158 2.6e-9 SMART
NEBU 1164 1194 1.3e-3 SMART
NEBU 1202 1232 1.2e-3 SMART
NEBU 1237 1267 8.8e-8 SMART
NEBU 1268 1298 2.7e-4 SMART
NEBU 1303 1333 1.2e-4 SMART
NEBU 1336 1366 1.4e-2 SMART
NEBU 1371 1401 4.3e-7 SMART
NEBU 1407 1437 5.6e-3 SMART
NEBU 1445 1475 8.8e-5 SMART
NEBU 1480 1510 1.2e-7 SMART
NEBU 1511 1541 4.8e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095948
AA Change: C450Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075
AA Change: C450Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
EGF 33 66 4.66e-6 SMART
EGF 71 105 3.97e0 SMART
EGF 110 145 2.26e-4 SMART
KR 149 235 2.72e-39 SMART
Tryp_SPc 270 507 1.47e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163502
SMART Domains Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
KR 1 41 5.87e-6 SMART
Tryp_SPc 76 220 5.6e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166049
AA Change: C482Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075
AA Change: C482Y

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
Tryp_SPc 302 539 1.47e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165522
SMART Domains Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
Pfam:Trypsin 41 106 6.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169099
SMART Domains Protein: ENSMUSP00000125889
Gene: ENSMUSG00000049134

DomainStartEndE-ValueType
NEBU 32 61 2.83e-6 SMART
NEBU 70 100 7.24e-4 SMART
NEBU 105 135 3.46e-1 SMART
NEBU 141 171 1.18e-3 SMART
NEBU 209 239 8.97e-9 SMART
NEBU 244 274 1.73e-10 SMART
NEBU 280 310 8.12e-7 SMART
NEBU 314 344 1.73e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171341
SMART Domains Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
EGF 70 103 4.66e-6 SMART
EGF 108 142 3.97e0 SMART
EGF 147 182 2.26e-4 SMART
KR 186 272 2.72e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167239
SMART Domains Protein: ENSMUSP00000128196
Gene: ENSMUSG00000049134

DomainStartEndE-ValueType
LIM 5 57 5.39e-11 SMART
NEBU 64 94 2.17e1 SMART
NEBU 168 197 1.94e-4 SMART
NEBU 202 232 1.39e-5 SMART
NEBU 239 268 2.23e-4 SMART
NEBU 308 337 2.83e-6 SMART
NEBU 346 376 3.82e-3 SMART
NEBU 382 412 1.18e-3 SMART
NEBU 450 480 8.97e-9 SMART
NEBU 485 515 1.73e-10 SMART
NEBU 521 551 8.12e-7 SMART
NEBU 555 585 1.73e-1 SMART
NEBU 590 620 2.33e-7 SMART
NEBU 621 651 1.49e-5 SMART
NEBU 655 686 5.12e-4 SMART
NEBU 689 719 8.12e-7 SMART
NEBU 724 754 2.64e-6 SMART
NEBU 760 790 3.48e-6 SMART
NEBU 798 828 2.35e-3 SMART
NEBU 833 863 6.11e-2 SMART
NEBU 864 894 1.69e-4 SMART
NEBU 899 929 3.88e-4 SMART
NEBU 932 962 4e-6 SMART
NEBU 967 997 4.22e-5 SMART
NEBU 1003 1033 2.64e-6 SMART
NEBU 1041 1071 3.68e-5 SMART
NEBU 1076 1106 4.16e-4 SMART
NEBU 1107 1137 1.1e-3 SMART
NEBU 1142 1172 1.68e1 SMART
NEBU 1175 1205 4.59e-6 SMART
NEBU 1210 1240 4.06e-7 SMART
NEBU 1246 1276 1.99e-1 SMART
NEBU 1284 1314 1.85e-1 SMART
NEBU 1319 1349 1.39e-5 SMART
NEBU 1350 1380 4.03e-2 SMART
NEBU 1385 1415 3.06e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166203
SMART Domains Protein: ENSMUSP00000132582
Gene: ENSMUSG00000049134

DomainStartEndE-ValueType
LIM 5 57 5.39e-11 SMART
NEBU 64 94 2.17e1 SMART
NEBU 168 197 1.94e-4 SMART
NEBU 202 232 1.39e-5 SMART
NEBU 239 268 2.23e-4 SMART
NEBU 308 337 2.83e-6 SMART
NEBU 346 376 7.24e-4 SMART
NEBU 381 411 3.46e-1 SMART
NEBU 417 447 1.18e-3 SMART
NEBU 485 515 8.97e-9 SMART
NEBU 520 550 1.06e-10 SMART
NEBU 554 584 1.73e-1 SMART
NEBU 589 619 2.33e-7 SMART
NEBU 620 650 1.49e-5 SMART
NEBU 654 685 5.12e-4 SMART
NEBU 688 718 8.12e-7 SMART
NEBU 723 753 2.64e-6 SMART
NEBU 759 789 3.48e-6 SMART
NEBU 797 827 2.35e-3 SMART
NEBU 832 862 6.11e-2 SMART
NEBU 863 893 1.69e-4 SMART
NEBU 898 928 3.88e-4 SMART
NEBU 931 961 4e-6 SMART
NEBU 966 996 4.22e-5 SMART
NEBU 1002 1032 2.64e-6 SMART
NEBU 1040 1070 3.68e-5 SMART
NEBU 1075 1105 4.16e-4 SMART
NEBU 1106 1136 1.1e-3 SMART
NEBU 1141 1171 1.68e1 SMART
NEBU 1174 1204 4.59e-6 SMART
NEBU 1209 1239 4.06e-7 SMART
NEBU 1245 1275 1.99e-1 SMART
NEBU 1283 1313 1.85e-1 SMART
NEBU 1318 1348 1.39e-5 SMART
NEBU 1349 1379 4.03e-2 SMART
NEBU 1384 1414 1.76e-2 SMART
NEBU 1417 1447 2.09e0 SMART
NEBU 1452 1482 6.4e-5 SMART
NEBU 1488 1518 8.63e-1 SMART
NEBU 1526 1556 1.33e-2 SMART
NEBU 1561 1591 1.84e-5 SMART
NEBU 1592 1622 7.24e-4 SMART
Coding Region Coverage
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 peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,700,279 (GRCm39) V41A probably damaging Het
Ankrd12 C T 17: 66,293,169 (GRCm39) V755I probably benign Het
Arrdc3 T C 13: 81,038,691 (GRCm39) S218P probably damaging Het
Bzw1 T C 1: 58,442,101 (GRCm39) V292A possibly damaging Het
Cers2 T C 3: 95,229,211 (GRCm39) Y228H probably damaging Het
Dnaaf6 A G X: 139,006,711 (GRCm39) I197V probably benign Het
Egf C T 3: 129,505,098 (GRCm39) M625I probably benign Het
Fbxw8 A T 5: 118,206,162 (GRCm39) H595Q probably benign Het
Fshr T A 17: 89,292,699 (GRCm39) I660F probably benign Het
Gapdh C T 6: 125,139,470 (GRCm39) V267M probably damaging Het
Ginm1 T C 10: 7,668,460 (GRCm39) probably benign Het
Gja1 A G 10: 56,264,418 (GRCm39) D259G probably benign Het
Gm21814 T A 6: 149,483,502 (GRCm39) noncoding transcript Het
Gm26870 T C 9: 3,002,340 (GRCm39) probably benign Het
Knl1 A C 2: 118,894,564 (GRCm39) N79T probably damaging Het
Lama3 G A 18: 12,624,605 (GRCm39) C1450Y probably damaging Het
Lats2 T C 14: 57,929,026 (GRCm39) T950A probably benign Het
Map2k2 T A 10: 80,956,907 (GRCm39) M95K probably damaging Het
Med12l T A 3: 58,949,757 (GRCm39) I160N probably damaging Het
Or9m1b A G 2: 87,836,988 (GRCm39) S45P probably damaging Het
Or9m2 A T 2: 87,820,782 (GRCm39) D109V probably damaging Het
Pes1 T C 11: 3,926,803 (GRCm39) S362P probably damaging Het
Ppp6r2 G T 15: 89,170,016 (GRCm39) A844S probably benign Het
Rnf130 A G 11: 49,984,623 (GRCm39) I308V probably damaging Het
Scn11a T C 9: 119,645,669 (GRCm39) N95S probably damaging Het
Shoc1 A G 4: 59,086,961 (GRCm39) F284L probably benign Het
Skint2 A G 4: 112,481,409 (GRCm39) T91A probably damaging Het
Smg1 A G 7: 117,797,494 (GRCm39) probably benign Het
Snapc1 A G 12: 74,015,148 (GRCm39) probably null Het
Stard10 A T 7: 100,971,173 (GRCm39) Y47F probably damaging Het
Tenm3 C T 8: 48,870,095 (GRCm39) V233I probably damaging Het
Tex14 G A 11: 87,426,469 (GRCm39) S1165N probably damaging Het
Unc5a A G 13: 55,143,633 (GRCm39) I106V probably benign Het
Vps54 T A 11: 21,227,909 (GRCm39) Y275N possibly damaging Het
Wdr87-ps G T 7: 29,237,047 (GRCm39) noncoding transcript Het
Other mutations in Habp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Habp2 APN 19 56,298,548 (GRCm39) missense probably benign 0.13
IGL01737:Habp2 APN 19 56,304,739 (GRCm39) missense probably benign 0.00
IGL02174:Habp2 APN 19 56,300,169 (GRCm39) missense probably damaging 0.96
IGL02250:Habp2 APN 19 56,297,361 (GRCm39) missense probably benign 0.00
IGL02706:Habp2 APN 19 56,298,570 (GRCm39) critical splice donor site probably null
IGL02953:Habp2 APN 19 56,302,664 (GRCm39) critical splice donor site probably null
IGL02986:Habp2 APN 19 56,299,624 (GRCm39) missense probably benign 0.25
IGL03010:Habp2 APN 19 56,299,655 (GRCm39) critical splice donor site probably null
R0415:Habp2 UTSW 19 56,306,149 (GRCm39) unclassified probably benign
R0483:Habp2 UTSW 19 56,304,864 (GRCm39) unclassified probably benign
R0627:Habp2 UTSW 19 56,302,478 (GRCm39) missense probably damaging 1.00
R1188:Habp2 UTSW 19 56,300,154 (GRCm39) missense probably benign 0.39
R1880:Habp2 UTSW 19 56,306,260 (GRCm39) missense possibly damaging 0.83
R2214:Habp2 UTSW 19 56,306,249 (GRCm39) missense possibly damaging 0.88
R2473:Habp2 UTSW 19 56,276,464 (GRCm39) missense possibly damaging 0.92
R2869:Habp2 UTSW 19 56,276,423 (GRCm39) unclassified probably benign
R2871:Habp2 UTSW 19 56,276,423 (GRCm39) unclassified probably benign
R3917:Habp2 UTSW 19 56,299,611 (GRCm39) missense probably damaging 1.00
R3969:Habp2 UTSW 19 56,300,133 (GRCm39) missense probably damaging 1.00
R4014:Habp2 UTSW 19 56,308,054 (GRCm39) missense probably benign 0.04
R4853:Habp2 UTSW 19 56,299,623 (GRCm39) splice site probably null
R5835:Habp2 UTSW 19 56,295,218 (GRCm39) missense probably benign 0.16
R6270:Habp2 UTSW 19 56,295,295 (GRCm39) missense possibly damaging 0.93
R6390:Habp2 UTSW 19 56,295,255 (GRCm39) missense possibly damaging 0.63
R7110:Habp2 UTSW 19 56,299,596 (GRCm39) nonsense probably null
R7268:Habp2 UTSW 19 56,302,518 (GRCm39) missense probably damaging 1.00
R7456:Habp2 UTSW 19 56,307,957 (GRCm39) missense probably damaging 1.00
R7583:Habp2 UTSW 19 56,300,236 (GRCm39) missense probably benign 0.03
R8021:Habp2 UTSW 19 56,302,485 (GRCm39) missense probably benign 0.04
R8354:Habp2 UTSW 19 56,301,388 (GRCm39) nonsense probably null
R8383:Habp2 UTSW 19 56,304,768 (GRCm39) missense probably damaging 1.00
R8813:Habp2 UTSW 19 56,295,216 (GRCm39) missense probably benign 0.08
R9140:Habp2 UTSW 19 56,307,934 (GRCm39) missense probably benign 0.03
R9367:Habp2 UTSW 19 56,304,781 (GRCm39) missense probably damaging 1.00
R9515:Habp2 UTSW 19 56,295,253 (GRCm39) missense probably benign 0.00
Z1176:Habp2 UTSW 19 56,306,192 (GRCm39) missense probably damaging 1.00
Z1177:Habp2 UTSW 19 56,307,985 (GRCm39) frame shift probably null
Posted On 2012-12-06