Incidental Mutation 'R0720:Htra3'
ID 63514
Institutional Source Beutler Lab
Gene Symbol Htra3
Ensembl Gene ENSMUSG00000029096
Gene Name HtrA serine peptidase 3
Synonyms 9530081K03Rik, 2210021K23Rik
MMRRC Submission 038902-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0720 (G1)
Quality Score 94
Status Validated
Chromosome 5
Chromosomal Location 35809367-35837126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35811453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 392 (I392M)
Ref Sequence ENSEMBL: ENSMUSP00000084910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087629] [ENSMUST00000201028]
AlphaFold Q9D236
Predicted Effect probably damaging
Transcript: ENSMUST00000087629
AA Change: I392M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084910
Gene: ENSMUSG00000029096
AA Change: I392M

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IB 29 89 1.6e-3 SMART
KAZAL 86 132 1.59e-7 SMART
Pfam:Trypsin 171 347 7.4e-15 PFAM
Pfam:Trypsin_2 181 325 1.4e-31 PFAM
PDZ 361 446 5.13e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201028
SMART Domains Protein: ENSMUSP00000144597
Gene: ENSMUSG00000029096

DomainStartEndE-ValueType
KAZAL 2 49 1.2e-4 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A G 17: 43,024,063 (GRCm39) I136T probably damaging Het
Bbs7 T C 3: 36,646,572 (GRCm39) D416G probably damaging Het
Commd4 G T 9: 57,062,718 (GRCm39) D179E probably benign Het
Cyp3a57 T C 5: 145,327,213 (GRCm39) probably benign Het
Dnah5 A G 15: 28,314,007 (GRCm39) N1941S probably null Het
Dynap T C 18: 70,374,055 (GRCm39) D157G unknown Het
Entrep2 A G 7: 64,469,658 (GRCm39) probably benign Het
Eri3 T C 4: 117,410,242 (GRCm39) probably null Het
Fbxo25 A G 8: 13,985,222 (GRCm39) Y305C probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fxr2 A G 11: 69,530,241 (GRCm39) D36G probably benign Het
Gas2l3 T C 10: 89,249,805 (GRCm39) T438A probably benign Het
Gcm1 A T 9: 77,971,923 (GRCm39) Y288F possibly damaging Het
Gm3164 C A 14: 4,442,719 (GRCm38) S218R probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Kansl1l T C 1: 66,840,515 (GRCm39) M262V possibly damaging Het
Lrrc47 T C 4: 154,104,344 (GRCm39) probably null Het
Macf1 A T 4: 123,326,718 (GRCm39) N4926K probably damaging Het
Mllt10 T C 2: 18,201,406 (GRCm39) S631P probably benign Het
Nlrp14 A G 7: 106,781,220 (GRCm39) H139R probably benign Het
Or1e34 T A 11: 73,778,688 (GRCm39) N170I probably benign Het
Or5w20 A T 2: 87,727,013 (GRCm39) T157S probably benign Het
Ptger2 T C 14: 45,226,590 (GRCm39) C57R probably benign Het
Rhot1 T C 11: 80,114,769 (GRCm39) V59A probably damaging Het
Rmdn2 G A 17: 79,975,458 (GRCm39) probably null Het
Rxfp2 G T 5: 149,967,584 (GRCm39) K148N probably benign Het
Sec23a G A 12: 59,018,057 (GRCm39) T623M probably damaging Het
Smcr8 T C 11: 60,669,269 (GRCm39) L139P probably damaging Het
Spag6l A T 16: 16,584,960 (GRCm39) probably benign Het
Taar1 T C 10: 23,796,971 (GRCm39) I223T probably damaging Het
Tdo2 G T 3: 81,870,065 (GRCm39) A269E probably damaging Het
Tnfsf18 A G 1: 161,331,156 (GRCm39) Y102C possibly damaging Het
Tns1 A G 1: 73,964,740 (GRCm39) L1297P probably benign Het
Txndc8 C T 4: 57,984,245 (GRCm39) probably benign Het
Ubr5 T C 15: 37,973,235 (GRCm39) N2622S probably damaging Het
Vmn2r99 T A 17: 19,599,305 (GRCm39) F330I probably benign Het
Zdhhc2 T A 8: 40,925,948 (GRCm39) probably null Het
Other mutations in Htra3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Htra3 APN 5 35,821,420 (GRCm39) splice site probably null
IGL02092:Htra3 APN 5 35,828,416 (GRCm39) missense probably damaging 0.97
IGL02164:Htra3 APN 5 35,810,410 (GRCm39) missense probably benign 0.26
IGL03123:Htra3 APN 5 35,823,477 (GRCm39) missense probably damaging 1.00
R0412:Htra3 UTSW 5 35,828,409 (GRCm39) missense probably damaging 1.00
R0962:Htra3 UTSW 5 35,825,700 (GRCm39) missense probably damaging 0.98
R3785:Htra3 UTSW 5 35,828,472 (GRCm39) missense probably benign 0.00
R4995:Htra3 UTSW 5 35,828,418 (GRCm39) missense probably damaging 0.99
R4999:Htra3 UTSW 5 35,828,469 (GRCm39) missense probably benign
R5316:Htra3 UTSW 5 35,821,420 (GRCm39) missense probably damaging 1.00
R5940:Htra3 UTSW 5 35,810,324 (GRCm39) missense possibly damaging 0.85
R7077:Htra3 UTSW 5 35,825,660 (GRCm39) missense probably damaging 1.00
R8252:Htra3 UTSW 5 35,810,305 (GRCm39) missense probably benign 0.15
R8459:Htra3 UTSW 5 35,828,569 (GRCm39) intron probably benign
R8789:Htra3 UTSW 5 35,836,602 (GRCm39) missense unknown
R8986:Htra3 UTSW 5 35,836,372 (GRCm39) missense probably damaging 1.00
R9304:Htra3 UTSW 5 35,836,515 (GRCm39) missense probably benign 0.19
R9589:Htra3 UTSW 5 35,821,409 (GRCm39) missense probably damaging 0.97
R9665:Htra3 UTSW 5 35,836,654 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCAGAAGGCTTGGGGTCACATAAG -3'
(R):5'- TCTCGGTCCATTCCACGACTGAAC -3'

Sequencing Primer
(F):5'- TTGGGGTCACATAAGGTCAGC -3'
(R):5'- CCATCTCATGGTTCAGGCAG -3'
Posted On 2013-07-30