Incidental Mutation 'IGL02708:Htra1'
ID 304456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htra1
Ensembl Gene ENSMUSG00000006205
Gene Name HtrA serine peptidase 1
Synonyms Prss11, insulin-like growth factor binding protein 5 protease, RSPP11, L56, HtrA1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02708
Quality Score
Status
Chromosome 7
Chromosomal Location 130537933-130587388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130563765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 212 (D212V)
Ref Sequence ENSEMBL: ENSMUSP00000006367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006367] [ENSMUST00000124096]
AlphaFold Q9R118
Predicted Effect probably damaging
Transcript: ENSMUST00000006367
AA Change: D212V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: D212V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IB 35 112 2.49e-24 SMART
KAZAL 109 155 4.28e-13 SMART
Pfam:Trypsin 192 364 3.5e-17 PFAM
Pfam:Trypsin_2 204 342 3.1e-35 PFAM
PDZ 381 466 7.48e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153290
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 trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,738,213 (GRCm39) V1104D probably damaging Het
Adgrl2 A T 3: 148,532,161 (GRCm39) V1024E probably damaging Het
Agbl2 A G 2: 90,631,686 (GRCm39) H348R probably benign Het
Aifm2 T C 10: 61,574,354 (GRCm39) probably benign Het
Ankrd26 T C 6: 118,495,379 (GRCm39) probably benign Het
Avpr1b A G 1: 131,528,389 (GRCm39) D304G probably damaging Het
Duox1 A G 2: 122,156,498 (GRCm39) D475G possibly damaging Het
E2f8 T C 7: 48,516,982 (GRCm39) probably null Het
Fat2 T A 11: 55,173,211 (GRCm39) I2501F probably damaging Het
Gm4181 A G 14: 51,870,689 (GRCm39) C91R probably benign Het
Gm5424 T A 10: 61,907,390 (GRCm39) noncoding transcript Het
Gnai3 A G 3: 108,025,660 (GRCm39) F140L probably benign Het
Irgm2 T C 11: 58,111,350 (GRCm39) V347A probably benign Het
Itch A G 2: 155,015,964 (GRCm39) T150A probably benign Het
Itgb3 A C 11: 104,528,655 (GRCm39) I261L possibly damaging Het
Kalrn C T 16: 34,212,420 (GRCm39) V31M probably damaging Het
Klra7 C T 6: 130,203,463 (GRCm39) C181Y probably damaging Het
Klrb1 A G 6: 128,690,548 (GRCm39) L58S probably benign Het
Kndc1 A G 7: 139,481,097 (GRCm39) E61G probably damaging Het
Krt78 T A 15: 101,861,842 (GRCm39) T135S possibly damaging Het
Mpdz A G 4: 81,202,808 (GRCm39) probably null Het
Mphosph6 A G 8: 118,519,525 (GRCm39) probably benign Het
Myo19 T C 11: 84,790,222 (GRCm39) S393P possibly damaging Het
Or51a5 A G 7: 102,771,027 (GRCm39) probably benign Het
Or8g53 T C 9: 39,683,214 (GRCm39) N294S probably damaging Het
Pkdrej T C 15: 85,704,988 (GRCm39) Y316C probably damaging Het
Pkp3 A T 7: 140,669,681 (GRCm39) probably benign Het
Pramel31 T A 4: 144,089,983 (GRCm39) L341H probably damaging Het
Psmb8 A G 17: 34,420,217 (GRCm39) K270E probably benign Het
Ptprq T C 10: 107,488,561 (GRCm39) N959D probably damaging Het
Rab6b T G 9: 103,038,074 (GRCm39) probably null Het
Rhobtb3 T C 13: 76,065,843 (GRCm39) D180G probably damaging Het
Sccpdh G A 1: 179,508,074 (GRCm39) C238Y probably benign Het
Srm C T 4: 148,677,803 (GRCm39) S147L probably benign Het
Synj1 A T 16: 90,788,350 (GRCm39) S173T probably damaging Het
Tas1r1 T C 4: 152,112,797 (GRCm39) E752G possibly damaging Het
Tmem151a G T 19: 5,132,875 (GRCm39) Y110* probably null Het
Ttn A G 2: 76,556,957 (GRCm39) V30016A probably damaging Het
Txnrd2 A G 16: 18,287,590 (GRCm39) E331G probably benign Het
Vldlr T C 19: 27,215,485 (GRCm39) C161R possibly damaging Het
Vmn1r91 T A 7: 19,835,415 (GRCm39) S111R probably damaging Het
Vmn2r66 T A 7: 84,655,796 (GRCm39) I407F probably benign Het
Vps13d T C 4: 144,854,850 (GRCm39) M2258V probably benign Het
Ypel1 A T 16: 16,923,872 (GRCm39) V59D probably benign Het
Other mutations in Htra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Htra1 APN 7 130,538,108 (GRCm39) missense probably benign
IGL02500:Htra1 APN 7 130,586,704 (GRCm39) missense probably benign 0.01
IGL03341:Htra1 APN 7 130,583,444 (GRCm39) missense probably benign 0.04
R0045:Htra1 UTSW 7 130,563,262 (GRCm39) missense probably damaging 1.00
R0045:Htra1 UTSW 7 130,563,262 (GRCm39) missense probably damaging 1.00
R0387:Htra1 UTSW 7 130,581,208 (GRCm39) missense probably damaging 1.00
R0681:Htra1 UTSW 7 130,581,027 (GRCm39) intron probably benign
R0963:Htra1 UTSW 7 130,584,009 (GRCm39) missense possibly damaging 0.75
R1244:Htra1 UTSW 7 130,586,799 (GRCm39) missense possibly damaging 0.87
R1892:Htra1 UTSW 7 130,586,799 (GRCm39) missense possibly damaging 0.87
R2279:Htra1 UTSW 7 130,563,752 (GRCm39) missense probably damaging 1.00
R4084:Htra1 UTSW 7 130,538,074 (GRCm39) missense probably benign 0.00
R4774:Htra1 UTSW 7 130,586,756 (GRCm39) missense probably benign 0.29
R4880:Htra1 UTSW 7 130,563,813 (GRCm39) missense probably damaging 1.00
R4909:Htra1 UTSW 7 130,586,802 (GRCm39) missense probably benign 0.43
R5183:Htra1 UTSW 7 130,585,446 (GRCm39) missense possibly damaging 0.58
R5819:Htra1 UTSW 7 130,583,469 (GRCm39) missense probably damaging 1.00
R5893:Htra1 UTSW 7 130,563,321 (GRCm39) missense probably damaging 1.00
R6709:Htra1 UTSW 7 130,537,948 (GRCm39) intron probably benign
R6845:Htra1 UTSW 7 130,538,021 (GRCm39) intron probably benign
R9332:Htra1 UTSW 7 130,563,851 (GRCm39) nonsense probably null
Posted On 2015-04-16