Incidental Mutation 'R2279:Htra1'
ID 242972
Institutional Source Beutler Lab
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
MMRRC Submission 040278-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2279 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 130537933-130587388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130563752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 208 (I208F)
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: I208F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: I208F

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G T 5: 90,412,576 (GRCm39) N1249K probably damaging Het
Anks1b T C 10: 89,885,958 (GRCm39) M218T probably damaging Het
Arfgef2 G C 2: 166,707,679 (GRCm39) G1025A probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Arhgap42 T C 9: 9,035,512 (GRCm39) M277V probably benign Het
Cabin1 T C 10: 75,589,295 (GRCm39) I87M probably benign Het
Cdc42bpa A G 1: 179,864,484 (GRCm39) N149D probably damaging Het
Cdh20 C A 1: 104,875,139 (GRCm39) A307E probably damaging Het
Cdk18 A T 1: 132,043,690 (GRCm39) Y385N probably damaging Het
Cfap410 T C 10: 77,817,476 (GRCm39) Y68H probably damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cptp A G 4: 155,950,878 (GRCm39) I196T probably damaging Het
Cyp4b1 T A 4: 115,497,557 (GRCm39) Y147F probably benign Het
Dbf4 T C 5: 8,471,333 (GRCm39) N36S possibly damaging Het
Dbr1 G T 9: 99,462,200 (GRCm39) Q166H probably benign Het
Ddx42 T A 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dnah17 T C 11: 117,987,387 (GRCm39) K1308E possibly damaging Het
Dpep1 A T 8: 123,920,883 (GRCm39) D21V probably benign Het
Dspp G A 5: 104,326,250 (GRCm39) S871N unknown Het
En1 T A 1: 120,534,916 (GRCm39) *402K probably null Het
Eogt G T 6: 97,111,262 (GRCm39) R200S probably benign Het
Epb41l3 A G 17: 69,577,645 (GRCm39) T542A possibly damaging Het
Fam50b C T 13: 34,930,823 (GRCm39) Q100* probably null Het
Gask1a T C 9: 121,794,668 (GRCm39) I274T probably benign Het
Gh T C 11: 106,191,613 (GRCm39) E143G probably damaging Het
Hcn3 C A 3: 89,055,168 (GRCm39) R693L probably benign Het
Ifna13 T A 4: 88,562,156 (GRCm39) E156V probably benign Het
Ints6 A G 14: 62,942,131 (GRCm39) probably null Het
Kifc5b A G 17: 27,144,515 (GRCm39) I545V probably damaging Het
Lrrc4c C T 2: 97,460,850 (GRCm39) S492F possibly damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Map2k6 T C 11: 110,390,290 (GRCm39) S275P probably damaging Het
Mpp2 T C 11: 101,955,127 (GRCm39) E166G probably damaging Het
Mrpl48 G A 7: 100,214,471 (GRCm39) T48I probably damaging Het
Neu1 A G 17: 35,153,350 (GRCm39) D291G probably damaging Het
Nktr A G 9: 121,560,603 (GRCm39) K116E possibly damaging Het
Npc1 T C 18: 12,330,236 (GRCm39) probably null Het
Or6b9 A T 7: 106,555,834 (GRCm39) M103K probably benign Het
Or6c1b A T 10: 129,273,526 (GRCm39) M282L probably benign Het
Or8k1 T C 2: 86,047,148 (GRCm39) E302G probably benign Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Phactr1 A T 13: 43,231,265 (GRCm39) S244C possibly damaging Het
Prex1 A T 2: 166,419,875 (GRCm39) I79N probably benign Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Rnf32 G T 5: 29,430,278 (GRCm39) V366F probably benign Het
Rpn2 A G 2: 157,152,208 (GRCm39) T394A possibly damaging Het
Ryr3 A T 2: 112,479,664 (GRCm39) M4386K possibly damaging Het
Sirt7 T C 11: 120,515,321 (GRCm39) S112G probably damaging Het
Slc1a6 A T 10: 78,624,882 (GRCm39) M96L probably benign Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Slc30a2 G T 4: 134,075,857 (GRCm39) Q210H probably benign Het
Sorcs2 A T 5: 36,199,430 (GRCm39) probably null Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Sytl3 A G 17: 6,976,273 (GRCm39) probably benign Het
Tasor A C 14: 27,164,452 (GRCm39) K253Q probably damaging Het
Tgm7 A G 2: 120,929,045 (GRCm39) S284P probably damaging Het
Tmem45a A T 16: 56,643,882 (GRCm39) L89Q probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Txlna T C 4: 129,525,935 (GRCm39) E304G probably damaging Het
Zfp709 T C 8: 72,642,934 (GRCm39) V121A 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTTCTAGCTCTGAAGTGATTCCC -3'
(R):5'- GAGCTCTGATGTCCTCACCATC -3'

Sequencing Primer
(F):5'- GATGCATTCCAAAAAGTAGCTTAGCG -3'
(R):5'- TCACCTTCTGAGAGCTGGG -3'
Posted On 2014-10-16