Incidental Mutation 'R4397:Prss38'
ID 325547
Institutional Source Beutler Lab
Gene Symbol Prss38
Ensembl Gene ENSMUSG00000049291
Gene Name serine protease 38
Synonyms Gm249, LOC216797
MMRRC Submission 041685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4397 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 59263495-59266483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59263854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 286 (Y286C)
Ref Sequence ENSEMBL: ENSMUSP00000052010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061481]
AlphaFold Q3UKY7
Predicted Effect probably damaging
Transcript: ENSMUST00000061481
AA Change: Y286C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052010
Gene: ENSMUSG00000049291
AA Change: Y286C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 55 284 7.08e-75 SMART
low complexity region 288 305 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133698
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Agap2 G A 10: 126,926,352 (GRCm39) A866T unknown Het
Aig1 A C 10: 13,528,726 (GRCm39) S237A probably benign Het
Baz1b C T 5: 135,273,300 (GRCm39) R1475W probably damaging Het
Bmp1 C T 14: 70,727,982 (GRCm39) probably null Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Dnajc15 T C 14: 78,112,234 (GRCm39) probably null Het
Fam135b T A 15: 71,320,525 (GRCm39) H1334L probably benign Het
Fancg A T 4: 43,008,897 (GRCm39) H113Q probably benign Het
Gfap G A 11: 102,787,810 (GRCm39) A45V probably benign Het
Gjd3 A T 11: 98,873,247 (GRCm39) L199Q probably damaging Het
Gvin-ps3 A G 7: 105,682,130 (GRCm39) noncoding transcript Het
H13 A G 2: 152,519,472 (GRCm39) D65G probably damaging Het
Hcls1 T C 16: 36,757,662 (GRCm39) V5A possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Iqgap3 T C 3: 88,011,665 (GRCm39) Y817H probably damaging Het
Iqsec2 C T X: 150,992,049 (GRCm39) T562I probably damaging Het
Klb A G 5: 65,537,382 (GRCm39) Y904C probably damaging Het
Kremen1 A T 11: 5,149,610 (GRCm39) S354T probably benign Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Lrp4 T C 2: 91,342,015 (GRCm39) V1876A probably benign Het
Magi3 T C 3: 104,127,030 (GRCm39) T85A probably damaging Het
Map3k12 C T 15: 102,409,694 (GRCm39) A694T probably benign Het
Mex3b T C 7: 82,519,031 (GRCm39) S449P possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nars2 T C 7: 96,622,771 (GRCm39) probably null Het
Nlrp1a T G 11: 70,988,030 (GRCm39) M1046L probably benign Het
Nphs1 T G 7: 30,181,390 (GRCm39) probably null Het
Nup133 G A 8: 124,671,040 (GRCm39) T119M probably benign Het
Or6c201 G T 10: 128,969,450 (GRCm39) N62K possibly damaging Het
Pcdhga9 A T 18: 37,871,694 (GRCm39) I508F probably damaging Het
Phactr3 A G 2: 177,817,199 (GRCm39) probably benign Het
Plcb3 T C 19: 6,943,193 (GRCm39) K155E probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Psg16 T C 7: 16,824,623 (GRCm39) S45P possibly damaging Het
Ptpn21 G T 12: 98,654,507 (GRCm39) P820Q probably damaging Het
Ptpn21 A G 12: 98,681,319 (GRCm39) V105A probably damaging Het
Rnf7 A G 9: 96,360,463 (GRCm39) M58T probably benign Het
Slc25a11 G A 11: 70,535,677 (GRCm39) A287V probably benign Het
Slit2 G T 5: 48,377,423 (GRCm39) probably null Het
Suco A G 1: 161,672,421 (GRCm39) Y460H probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Trpv6 A G 6: 41,602,172 (GRCm39) I379T possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Virma A G 4: 11,513,901 (GRCm39) E585G possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Vmn2r88 A T 14: 51,655,435 (GRCm39) D549V probably damaging Het
Other mutations in Prss38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03075:Prss38 APN 11 59,263,881 (GRCm39) missense probably damaging 1.00
LCD18:Prss38 UTSW 11 59,266,467 (GRCm39) utr 5 prime probably benign
R0001:Prss38 UTSW 11 59,264,006 (GRCm39) splice site probably benign
R0097:Prss38 UTSW 11 59,266,434 (GRCm39) missense possibly damaging 0.86
R0097:Prss38 UTSW 11 59,266,434 (GRCm39) missense possibly damaging 0.86
R0540:Prss38 UTSW 11 59,266,369 (GRCm39) missense possibly damaging 0.50
R0607:Prss38 UTSW 11 59,266,369 (GRCm39) missense possibly damaging 0.50
R1966:Prss38 UTSW 11 59,264,310 (GRCm39) missense probably damaging 1.00
R4394:Prss38 UTSW 11 59,263,854 (GRCm39) missense probably damaging 1.00
R4529:Prss38 UTSW 11 59,264,325 (GRCm39) missense probably damaging 1.00
R4738:Prss38 UTSW 11 59,263,771 (GRCm39) missense probably benign 0.00
R5061:Prss38 UTSW 11 59,265,196 (GRCm39) missense probably damaging 0.98
R5219:Prss38 UTSW 11 59,266,309 (GRCm39) splice site probably benign
R5306:Prss38 UTSW 11 59,263,821 (GRCm39) missense probably benign 0.00
R6894:Prss38 UTSW 11 59,263,850 (GRCm39) missense probably benign 0.19
R7286:Prss38 UTSW 11 59,266,384 (GRCm39) missense probably benign 0.00
R7860:Prss38 UTSW 11 59,265,996 (GRCm39) missense probably damaging 1.00
T0970:Prss38 UTSW 11 59,263,974 (GRCm39) missense possibly damaging 0.81
Z1176:Prss38 UTSW 11 59,265,160 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGTGTCCTGACTTCATGGAAC -3'
(R):5'- GGGCATACCTGGTCTAGTAGATC -3'

Sequencing Primer
(F):5'- TGCGTGGAAGCAGGATTTGAG -3'
(R):5'- CCTGGTCTAGTAGATCACAGAAAGC -3'
Posted On 2015-07-06