Incidental Mutation 'R6280:Mep1a'
ID 507934
Institutional Source Beutler Lab
Gene Symbol Mep1a
Ensembl Gene ENSMUSG00000023914
Gene Name meprin 1 alpha
Synonyms Mep-1, meprin A alpha-subunit, meprin alpha, Mep-1a, Mep1
MMRRC Submission 044450-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6280 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 43785215-43813703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43813283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 46 (N46K)
Ref Sequence ENSEMBL: ENSMUSP00000113838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024707] [ENSMUST00000117137]
AlphaFold P28825
Predicted Effect probably damaging
Transcript: ENSMUST00000024707
AA Change: N59K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: N59K

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
ZnMc 83 222 1.16e-41 SMART
MAM 276 445 5.38e-61 SMART
MATH 445 590 6.9e-17 SMART
EGF 687 724 1.35e-2 SMART
transmembrane domain 727 749 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117137
AA Change: N46K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: N46K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
ZnMc 70 209 1.16e-41 SMART
MAM 263 432 5.38e-61 SMART
MATH 432 577 6.9e-17 SMART
EGF 674 711 1.35e-2 SMART
transmembrane domain 714 736 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152155
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Col18a1 A T 10: 76,948,323 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 (GRCm39) V442I probably benign Het
Fam83g G T 11: 61,594,008 (GRCm39) S514I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hira A G 16: 18,729,457 (GRCm39) N109D probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Irak4 G T 15: 94,449,691 (GRCm39) E57* probably null Het
Kcnh2 T A 5: 24,536,921 (GRCm39) H221L probably benign Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Pou2f3 A T 9: 43,050,634 (GRCm39) L242Q probably damaging Het
Pou2f3 G T 9: 43,050,635 (GRCm39) L242M probably damaging Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tbc1d5 T C 17: 51,089,338 (GRCm39) N614S probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A probably benign Het
Other mutations in Mep1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Mep1a APN 17 43,789,975 (GRCm39) missense probably benign 0.00
IGL02814:Mep1a APN 17 43,788,112 (GRCm39) missense probably benign
IGL03000:Mep1a APN 17 43,785,881 (GRCm39) missense probably benign
IGL03335:Mep1a APN 17 43,788,064 (GRCm39) missense possibly damaging 0.63
IGL03410:Mep1a APN 17 43,788,986 (GRCm39) splice site probably null
PIT4544001:Mep1a UTSW 17 43,793,178 (GRCm39) missense probably damaging 1.00
R0127:Mep1a UTSW 17 43,808,777 (GRCm39) splice site probably benign
R0306:Mep1a UTSW 17 43,813,534 (GRCm39) splice site probably benign
R0329:Mep1a UTSW 17 43,808,789 (GRCm39) critical splice donor site probably null
R0330:Mep1a UTSW 17 43,808,789 (GRCm39) critical splice donor site probably null
R0358:Mep1a UTSW 17 43,789,841 (GRCm39) missense possibly damaging 0.92
R0667:Mep1a UTSW 17 43,789,081 (GRCm39) missense probably benign 0.06
R1101:Mep1a UTSW 17 43,802,584 (GRCm39) missense probably benign 0.03
R1458:Mep1a UTSW 17 43,802,563 (GRCm39) missense probably damaging 1.00
R1525:Mep1a UTSW 17 43,802,527 (GRCm39) missense probably damaging 1.00
R1992:Mep1a UTSW 17 43,813,573 (GRCm39) missense probably benign
R2014:Mep1a UTSW 17 43,808,797 (GRCm39) missense probably benign 0.01
R2212:Mep1a UTSW 17 43,788,154 (GRCm39) missense probably benign 0.02
R3946:Mep1a UTSW 17 43,785,932 (GRCm39) nonsense probably null
R4400:Mep1a UTSW 17 43,785,897 (GRCm39) missense possibly damaging 0.77
R4598:Mep1a UTSW 17 43,802,469 (GRCm39) critical splice donor site probably null
R4616:Mep1a UTSW 17 43,797,132 (GRCm39) missense possibly damaging 0.81
R4688:Mep1a UTSW 17 43,793,139 (GRCm39) missense possibly damaging 0.89
R5085:Mep1a UTSW 17 43,789,035 (GRCm39) missense probably damaging 0.99
R5355:Mep1a UTSW 17 43,788,037 (GRCm39) missense probably damaging 0.98
R5832:Mep1a UTSW 17 43,789,055 (GRCm39) missense probably benign 0.27
R5833:Mep1a UTSW 17 43,789,055 (GRCm39) missense probably benign 0.27
R5834:Mep1a UTSW 17 43,789,055 (GRCm39) missense probably benign 0.27
R5835:Mep1a UTSW 17 43,789,055 (GRCm39) missense probably benign 0.27
R6340:Mep1a UTSW 17 43,790,124 (GRCm39) missense probably benign 0.00
R6340:Mep1a UTSW 17 43,789,949 (GRCm39) missense probably benign 0.00
R6934:Mep1a UTSW 17 43,793,121 (GRCm39) missense probably damaging 0.99
R7247:Mep1a UTSW 17 43,785,995 (GRCm39) missense possibly damaging 0.67
R7660:Mep1a UTSW 17 43,789,868 (GRCm39) missense probably benign 0.29
R7685:Mep1a UTSW 17 43,790,065 (GRCm39) missense probably benign 0.00
R7703:Mep1a UTSW 17 43,788,997 (GRCm39) missense possibly damaging 0.69
R7871:Mep1a UTSW 17 43,790,126 (GRCm39) missense probably benign 0.33
R8131:Mep1a UTSW 17 43,813,558 (GRCm39) missense probably benign 0.00
R8783:Mep1a UTSW 17 43,789,081 (GRCm39) missense probably benign 0.00
R8880:Mep1a UTSW 17 43,808,808 (GRCm39) missense possibly damaging 0.46
R9448:Mep1a UTSW 17 43,805,869 (GRCm39) critical splice acceptor site probably null
R9455:Mep1a UTSW 17 43,805,867 (GRCm39) missense probably benign 0.00
RF010:Mep1a UTSW 17 43,797,126 (GRCm39) missense probably damaging 0.99
Z1088:Mep1a UTSW 17 43,802,487 (GRCm39) missense probably damaging 1.00
Z1176:Mep1a UTSW 17 43,788,211 (GRCm39) missense probably benign 0.08
Z1177:Mep1a UTSW 17 43,797,197 (GRCm39) missense probably damaging 1.00
Z1177:Mep1a UTSW 17 43,797,188 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAAAGGCAATCCTGTCATAG -3'
(R):5'- GCATCCGTTGTAGCCTGTTAC -3'

Sequencing Primer
(F):5'- AATTAGGCATGGAGCTGCCTATCC -3'
(R):5'- GTTGTCTTCAACAAGGCTT -3'
Posted On 2018-03-15