Incidental Mutation 'R8789:Htra3'
ID 686584
Institutional Source Beutler Lab
Gene Symbol Htra3
Ensembl Gene ENSMUSG00000029096
Gene Name HtrA serine peptidase 3
Synonyms 9530081K03Rik, 2210021K23Rik
MMRRC Submission 068608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8789 (G1)
Quality Score 44.0073
Status Validated
Chromosome 5
Chromosomal Location 35809367-35837126 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35836602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 30 (P30L)
Ref Sequence ENSEMBL: ENSMUSP00000084910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087629] [ENSMUST00000114233] [ENSMUST00000201028]
AlphaFold Q9D236
Predicted Effect unknown
Transcript: ENSMUST00000087629
AA Change: P30L
SMART Domains Protein: ENSMUSP00000084910
Gene: ENSMUSG00000029096
AA Change: P30L

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 unknown
Transcript: ENSMUST00000114233
AA Change: P30L
SMART Domains Protein: ENSMUSP00000109871
Gene: ENSMUSG00000029096
AA Change: P30L

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 4.4e-15 PFAM
Pfam:Trypsin_2 181 325 7.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201028
SMART Domains Protein: ENSMUSP00000144597
Gene: ENSMUSG00000029096

DomainStartEndE-ValueType
KAZAL 2 49 1.2e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 C T 2: 158,478,604 (GRCm39) Q485* probably null Het
Arsa C T 15: 89,358,260 (GRCm39) V350I probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cav2 T C 6: 17,281,996 (GRCm39) Y85H probably damaging Het
Ccdc93 A G 1: 121,424,784 (GRCm39) Q570R probably damaging Het
Cd72 A G 4: 43,452,628 (GRCm39) S122P probably damaging Het
Cep72 A G 13: 74,186,367 (GRCm39) M619T possibly damaging Het
Cers5 C A 15: 99,637,551 (GRCm39) V233F possibly damaging Het
Cntn5 A G 9: 9,673,292 (GRCm39) Y803H probably damaging Het
Crybg2 T C 4: 133,801,554 (GRCm39) S596P probably benign Het
Crybg3 T C 16: 59,375,359 (GRCm39) E251G probably benign Het
Csmd1 T A 8: 17,266,722 (GRCm39) N68I probably damaging Het
Ctr9 A G 7: 110,642,933 (GRCm39) N466S possibly damaging Het
Cyp2a4 T A 7: 26,007,106 (GRCm39) I71N probably damaging Het
Cyp2j11 C T 4: 96,227,405 (GRCm39) E204K probably damaging Het
Cyp4f39 T C 17: 32,710,848 (GRCm39) F469S probably damaging Het
Dmac2 T A 7: 25,320,495 (GRCm39) S65T probably benign Het
Duxf1 T C 10: 58,059,426 (GRCm39) N443D unknown Het
Elp3 G A 14: 65,802,870 (GRCm39) P243S probably damaging Het
Foxg1 T A 12: 49,432,143 (GRCm39) M292K probably benign Het
Fsip2 T C 2: 82,815,822 (GRCm39) S3852P possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm10912 A C 2: 103,897,046 (GRCm39) K62Q possibly damaging Het
Grk2 G A 19: 4,338,511 (GRCm39) R474C probably damaging Het
Hapstr1 T C 16: 8,660,865 (GRCm39) I114T probably benign Het
Hoxc12 T C 15: 102,846,732 (GRCm39) I208T probably benign Het
Itgal A G 7: 126,904,421 (GRCm39) H298R probably benign Het
Klrb1c A G 6: 128,761,148 (GRCm39) S160P probably benign Het
Or13c7d A T 4: 43,770,793 (GRCm39) C73S probably damaging Het
Or2z9 T C 8: 72,854,135 (GRCm39) F177S probably damaging Het
Phrf1 T A 7: 140,836,581 (GRCm39) D284E unknown Het
Pmp2 T A 3: 10,247,564 (GRCm39) I42F probably damaging Het
Psg26 T C 7: 18,216,494 (GRCm39) D115G probably damaging Het
Pym1 T C 10: 128,601,073 (GRCm39) V32A probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Recql4 T C 15: 76,588,546 (GRCm39) H1105R probably benign Het
Rimkla T C 4: 119,349,607 (GRCm39) Y17C probably damaging Het
Rnf207 C T 4: 152,391,924 (GRCm39) R623K probably benign Het
Ros1 A T 10: 51,999,328 (GRCm39) N1207K probably damaging Het
Scg2 G T 1: 79,413,500 (GRCm39) Q368K probably benign Het
Serpinb6e G A 13: 34,017,213 (GRCm39) T269I probably damaging Het
Tsc22d2 A T 3: 58,367,438 (GRCm39) K663* probably null Het
Ubr4 T A 4: 139,137,494 (GRCm39) N1026K possibly damaging Het
Ubtfl1 A G 9: 18,321,609 (GRCm39) D379G unknown Het
Vps13d T C 4: 144,795,743 (GRCm39) M3700V Het
Zscan4-ps3 T C 7: 11,346,288 (GRCm39) L136P probably damaging 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
R0720:Htra3 UTSW 5 35,811,453 (GRCm39) missense probably damaging 0.99
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
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'- TAAGTATGCCCGTCTGTGC -3'
(R):5'- TGTCTTGGCCTTTAAGCGCC -3'

Sequencing Primer
(F):5'- ACACAGTGTGGGTCCAAC -3'
(R):5'- CTGAAGCTCGGCTGAGAG -3'
Posted On 2021-11-17