Incidental Mutation 'IGL02090:Htra1'
ID 279433
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 # IGL02090
Quality Score
Status
Chromosome 7
Chromosomal Location 130537933-130587388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130538108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 36 (V36A)
Ref Sequence ENSEMBL: ENSMUSP00000006367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006367] [ENSMUST00000124096]
AlphaFold Q9R118
Predicted Effect probably benign
Transcript: ENSMUST00000006367
AA Change: V36A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: V36A

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 162,968,701 (GRCm39) T482A probably damaging Het
Adh1 T C 3: 137,988,546 (GRCm39) I173T possibly damaging Het
Apoa1 T C 9: 46,140,548 (GRCm39) S60P possibly damaging Het
Blnk A G 19: 40,922,929 (GRCm39) V396A probably benign Het
Borcs8 A G 8: 70,619,030 (GRCm39) D204G probably damaging Het
Calhm5 G A 10: 33,972,261 (GRCm39) P58L probably damaging Het
Cbfa2t2 A G 2: 154,373,336 (GRCm39) probably benign Het
Cdkal1 T G 13: 29,701,493 (GRCm39) I319L probably benign Het
Celsr1 T A 15: 85,791,922 (GRCm39) T2560S possibly damaging Het
Chd8 A G 14: 52,464,691 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,689,932 (GRCm39) probably benign Het
Dnah10 A G 5: 124,866,876 (GRCm39) N2265S probably damaging Het
Dnah5 C T 15: 28,240,187 (GRCm39) probably benign Het
Epgn G A 5: 91,181,816 (GRCm39) G133E probably damaging Het
Fdx2 C A 9: 20,984,766 (GRCm39) V13F probably benign Het
Gabarapl2 A G 8: 112,667,831 (GRCm39) Y25C probably damaging Het
Gigyf1 G A 5: 137,523,826 (GRCm39) probably null Het
Gm6040 G A 8: 21,407,169 (GRCm39) probably benign Het
Gm8229 T C 14: 44,604,054 (GRCm39) L81P unknown Het
Gstz1 A G 12: 87,210,528 (GRCm39) E137G probably benign Het
Ifnlr1 T C 4: 135,432,578 (GRCm39) V338A probably benign Het
Igsf8 A G 1: 172,140,156 (GRCm39) probably benign Het
Khdc1a T A 1: 21,421,212 (GRCm39) F132L probably benign Het
Kifc3 G A 8: 95,829,108 (GRCm39) S561L probably damaging Het
Mpi T C 9: 57,457,936 (GRCm39) T89A probably benign Het
Ncor2 A T 5: 125,111,467 (GRCm39) M1281K probably damaging Het
Or4c117 T C 2: 88,956,021 (GRCm39) N18S probably benign Het
Or4k49 G T 2: 111,495,333 (GRCm39) C254F probably damaging Het
Or6c213 T A 10: 129,574,181 (GRCm39) I202L probably benign Het
Or6c66b T C 10: 129,377,176 (GRCm39) Y257H probably damaging Het
Otog G A 7: 45,949,571 (GRCm39) G2403D probably damaging Het
Pdgfb C A 15: 79,898,184 (GRCm39) A6S probably benign Het
Pfkm T C 15: 98,021,121 (GRCm39) probably null Het
Plcb4 A G 2: 135,789,041 (GRCm39) M274V probably benign Het
Ppm1m A G 9: 106,074,001 (GRCm39) probably null Het
Rptn A G 3: 93,304,041 (GRCm39) D458G possibly damaging Het
Sertad3 C T 7: 27,175,950 (GRCm39) S128F probably benign Het
Sgo2b A T 8: 64,380,123 (GRCm39) L903Q probably damaging Het
Slc15a5 C T 6: 138,020,598 (GRCm39) R245H probably benign Het
Slc24a5 A T 2: 124,910,218 (GRCm39) T40S probably benign Het
Smchd1 T C 17: 71,738,248 (GRCm39) N539S possibly damaging Het
Tlr11 A G 14: 50,600,489 (GRCm39) D825G probably damaging Het
Top3b T G 16: 16,709,334 (GRCm39) V674G possibly damaging Het
Urb2 G A 8: 124,754,976 (GRCm39) V228I probably benign Het
Usp24 C T 4: 106,268,623 (GRCm39) A2061V possibly damaging Het
Wdr72 C A 9: 74,062,212 (GRCm39) H453N possibly damaging Het
Xkr9 T C 1: 13,771,600 (GRCm39) M372T probably damaging Het
Zc3h12d T G 10: 7,743,096 (GRCm39) S289A probably benign Het
Zfp607b A T 7: 27,398,140 (GRCm39) M75L possibly damaging Het
Other mutations in Htra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02500:Htra1 APN 7 130,586,704 (GRCm39) missense probably benign 0.01
IGL02708:Htra1 APN 7 130,563,765 (GRCm39) missense probably damaging 1.00
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