Incidental Mutation 'R9751:Mcpt4'
ID 732538
Institutional Source Beutler Lab
Gene Symbol Mcpt4
Ensembl Gene ENSMUSG00000061068
Gene Name mast cell protease 4
Synonyms MMCP-4B, Mcp4, myonase, Mcp-4, MMCP-4, MMCP-4A
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9751 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 56059629-56062313 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56060054 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 215 (I215T)
Ref Sequence ENSEMBL: ENSMUSP00000038103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043249]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043249
AA Change: I215T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038103
Gene: ENSMUSG00000061068
AA Change: I215T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 239 6.1e-88 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this locus affects thrombin regulation and fibronectin turnover. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,011,740 I54M Het
Abca4 A G 3: 122,087,477 N514D probably benign Het
Adgre1 G A 17: 57,450,101 R786H probably null Het
Ankrd7 G A 6: 18,868,025 V97I probably damaging Het
Bmper C T 9: 23,406,713 P543S possibly damaging Het
Brwd1 A T 16: 95,993,815 M2233K possibly damaging Het
C1s2 G T 6: 124,625,594 P553T probably damaging Het
Cachd1 G A 4: 100,966,241 V497I possibly damaging Het
Cacng4 A G 11: 107,735,193 S191P probably damaging Het
Cd109 C A 9: 78,698,160 T1015K probably damaging Het
Clstn2 A G 9: 97,457,650 L756P probably damaging Het
Crybg3 A T 16: 59,557,524 D1122E possibly damaging Het
Csf2 A T 11: 54,249,594 L6* probably null Het
Csnk1g2 T A 10: 80,637,911 Y71N possibly damaging Het
Dlg2 C A 7: 90,915,523 H116N probably benign Het
Dnah14 C T 1: 181,792,045 S3978L probably damaging Het
Dpp8 C T 9: 65,053,171 T328I probably null Het
Dysf T C 6: 84,186,468 V1625A probably damaging Het
Egf C A 3: 129,754,889 V26F probably damaging Het
Fam126a C T 5: 23,991,750 E47K probably benign Het
Fam20a T A 11: 109,675,166 Y414F probably damaging Het
Fsip2 T C 2: 82,987,897 I4658T probably benign Het
Gm11639 G A 11: 104,893,085 G2754E probably benign Het
Gm21319 T C 12: 87,773,756 N11S possibly damaging Het
Igflr1 A T 7: 30,567,228 Q167L possibly damaging Het
Krt79 T G 15: 101,930,761 E424D probably benign Het
Map3k6 A G 4: 133,251,857 probably null Het
Med13 T C 11: 86,299,158 Y975C probably damaging Het
Meioc T A 11: 102,675,593 Y678* probably null Het
Myof T C 19: 37,936,370 T1190A probably benign Het
Nap1l4 A C 7: 143,534,395 probably benign Het
Ncapg T C 5: 45,693,853 V796A probably damaging Het
Olfr1167 T A 2: 88,149,270 I250L probably benign Het
Olfr1168 T A 2: 88,184,916 V13E possibly damaging Het
Olfr1224-ps1 C T 2: 89,156,438 V246M possibly damaging Het
Olfr1257 C T 2: 89,881,612 T262I probably benign Het
Olfr493 T C 7: 108,346,438 Y181C probably benign Het
Paxbp1 A G 16: 91,027,300 S515P probably benign Het
Plce1 C T 19: 38,728,970 S1401F probably damaging Het
Rptor A G 11: 119,887,138 K1043E probably benign Het
Rtn4rl2 T G 2: 84,880,695 N75T probably damaging Het
Slc35f4 A G 14: 49,298,834 I448T possibly damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,301,649 probably benign Het
Tas2r115 A G 6: 132,737,955 I11T possibly damaging Het
Tbc1d5 A G 17: 50,874,652 V351A possibly damaging Het
Tmem55b A G 14: 50,927,979 V257A probably benign Het
Trim43b A T 9: 89,089,517 D195E probably benign Het
Trim65 C A 11: 116,130,738 A90S probably benign Het
Trip11 C T 12: 101,884,506 V1100I possibly damaging Het
Tyrp1 A G 4: 80,840,775 E295G probably null Het
Ube2g2 G A 10: 77,644,473 V138I probably benign Het
Wdr60 T A 12: 116,241,783 probably null Het
Other mutations in Mcpt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Mcpt4 APN 14 56061030 missense probably benign
IGL02733:Mcpt4 APN 14 56060667 missense probably benign 0.03
R0622:Mcpt4 UTSW 14 56060662 missense probably benign 0.06
R1699:Mcpt4 UTSW 14 56059959 makesense probably null
R4298:Mcpt4 UTSW 14 56060987 missense possibly damaging 0.70
R4413:Mcpt4 UTSW 14 56060536 missense probably damaging 0.98
R5191:Mcpt4 UTSW 14 56061009 missense probably benign 0.00
R5378:Mcpt4 UTSW 14 56062293 splice site probably null
R6650:Mcpt4 UTSW 14 56060633 missense possibly damaging 0.82
R7062:Mcpt4 UTSW 14 56060668 missense probably benign 0.09
R7730:Mcpt4 UTSW 14 56059971 missense probably benign
R7809:Mcpt4 UTSW 14 56060684 missense possibly damaging 0.77
R8363:Mcpt4 UTSW 14 56062235 missense probably damaging 1.00
R9368:Mcpt4 UTSW 14 56061677 missense probably damaging 0.97
X0019:Mcpt4 UTSW 14 56062272 start codon destroyed probably null 0.94
Z1088:Mcpt4 UTSW 14 56060510 nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATGCTTTGTTGAACCCAAGGG -3'
(R):5'- GGGAAACAGTCTCAACACTAGG -3'

Sequencing Primer
(F):5'- CCCAAGGGTTATCAGAAGAGCTC -3'
(R):5'- TTCTCACCTACAGGGAGA -3'
Posted On 2022-11-14