Incidental Mutation 'IGL02500:Htra1'
ID296020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htra1
Ensembl Gene ENSMUSG00000006205
Gene NameHtrA serine peptidase 1
SynonymsPrss11, insulin-like growth factor binding protein 5 protease, RSPP11, L56, HtrA1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02500
Quality Score
Status
Chromosome7
Chromosomal Location130936111-130985660 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130984974 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 429 (K429R)
Ref Sequence ENSEMBL: ENSMUSP00000006367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006367] [ENSMUST00000124096]
Predicted Effect probably benign
Transcript: ENSMUST00000006367
AA Change: K429R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: K429R

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: ENSMUST00000140741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150905
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,618,926 I409N possibly damaging Het
Aoc3 T A 11: 101,337,389 L674* probably null Het
Arhgef10 G A 8: 14,961,238 E265K probably damaging Het
Cd53 A G 3: 106,768,826 I75T probably damaging Het
Col26a1 A T 5: 136,754,339 L235* probably null Het
Crem G T 18: 3,273,477 Q60K probably damaging Het
Cyp2j8 T C 4: 96,470,650 D344G probably damaging Het
Cyr61 T C 3: 145,648,700 K152R probably damaging Het
Dchs1 T C 7: 105,755,806 T2510A probably benign Het
Dnajc4 T C 19: 6,988,088 Q215R possibly damaging Het
Espl1 A G 15: 102,315,800 H1262R probably benign Het
Exoc2 G T 13: 30,911,196 T239K probably damaging Het
Fzd6 A T 15: 39,031,386 S316C probably damaging Het
Il1rapl2 C T X: 138,846,503 T647I possibly damaging Het
Kcnn3 T A 3: 89,661,112 probably benign Het
Kiz G A 2: 146,863,813 V98I probably benign Het
Klk1b24 A T 7: 44,188,324 probably benign Het
Lrrc30 T A 17: 67,631,862 N241I probably damaging Het
Map2k4 A G 11: 65,696,310 V288A probably damaging Het
Mefv T C 16: 3,713,577 H459R probably damaging Het
Mettl21a G T 1: 64,608,054 Q115K probably benign Het
Msra A G 14: 64,285,188 probably benign Het
Myh8 G A 11: 67,305,710 R1752H probably benign Het
Nrp1 T C 8: 128,425,799 F163S possibly damaging Het
Ntng1 T A 3: 110,135,330 Y60F probably damaging Het
Pax6 G T 2: 105,692,770 R317L probably benign Het
Pcdh17 A G 14: 84,533,469 E1129G probably benign Het
Phlpp2 C T 8: 109,913,618 H472Y probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prkce A G 17: 86,168,914 N108D probably benign Het
Prkdc T G 16: 15,714,282 probably null Het
Ptprm T C 17: 66,920,048 Y702C probably damaging Het
Rbbp8nl T C 2: 180,279,329 T421A possibly damaging Het
Retnlg A T 16: 48,872,960 L33F probably benign Het
Slc16a7 T A 10: 125,230,933 Y279F probably damaging Het
Slc8a1 T C 17: 81,388,713 Y964C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sspo C A 6: 48,478,379 C3047* probably null Het
Tmprss11b C T 5: 86,667,323 probably null Het
Txnrd1 T G 10: 82,879,217 W98G probably damaging Het
Ulk1 A T 5: 110,809,134 I66N probably damaging Het
Ush2a A G 1: 188,822,696 Y3557C probably damaging Het
Vmn2r57 T A 7: 41,428,226 H172L probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T A 7: 81,041,726 C1218S probably benign Het
Other mutations in Htra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Htra1 APN 7 130936378 missense probably benign
IGL02708:Htra1 APN 7 130962035 missense probably damaging 1.00
IGL03341:Htra1 APN 7 130981714 missense probably benign 0.04
R0045:Htra1 UTSW 7 130961532 missense probably damaging 1.00
R0045:Htra1 UTSW 7 130961532 missense probably damaging 1.00
R0387:Htra1 UTSW 7 130979478 missense probably damaging 1.00
R0681:Htra1 UTSW 7 130979297 intron probably benign
R0963:Htra1 UTSW 7 130982279 missense possibly damaging 0.75
R1244:Htra1 UTSW 7 130985069 missense possibly damaging 0.87
R1892:Htra1 UTSW 7 130985069 missense possibly damaging 0.87
R2279:Htra1 UTSW 7 130962022 missense probably damaging 1.00
R4084:Htra1 UTSW 7 130936344 missense probably benign 0.00
R4774:Htra1 UTSW 7 130985026 missense probably benign 0.29
R4880:Htra1 UTSW 7 130962083 missense probably damaging 1.00
R4909:Htra1 UTSW 7 130985072 missense probably benign 0.43
R5183:Htra1 UTSW 7 130983716 missense possibly damaging 0.58
R5819:Htra1 UTSW 7 130981739 missense probably damaging 1.00
R5893:Htra1 UTSW 7 130961591 missense probably damaging 1.00
R6709:Htra1 UTSW 7 130936218 intron probably benign
R6845:Htra1 UTSW 7 130936291 intron probably benign
Posted On2015-04-16