Incidental Mutation 'R7641:Mep1b'
ID 590271
Institutional Source Beutler Lab
Gene Symbol Mep1b
Ensembl Gene ENSMUSG00000024313
Gene Name meprin 1 beta
Synonyms Mep-1b, meprin beta
MMRRC Submission 045699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R7641 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 21205401-21233256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21228034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 546 (F546L)
Ref Sequence ENSEMBL: ENSMUSP00000080866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082235]
AlphaFold Q61847
Predicted Effect possibly damaging
Transcript: ENSMUST00000082235
AA Change: F546L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080866
Gene: ENSMUSG00000024313
AA Change: F546L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 30 42 N/A INTRINSIC
ZnMc 68 208 1.23e-54 SMART
MAM 261 430 1.91e-52 SMART
MATH 433 569 4.88e-8 SMART
EGF 610 647 2.35e-2 SMART
transmembrane domain 658 680 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit 50% prenatal lethality; survivors have reduced birth weight and show altered renal gene expression, but otherwise are apparently normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T A 5: 121,657,370 (GRCm39) Q641L probably benign Het
Aknad1 A T 3: 108,679,291 (GRCm39) H474L probably benign Het
Alkal1 A T 1: 6,459,712 (GRCm39) Y96F probably damaging Het
Cars1 A G 7: 143,140,840 (GRCm39) probably null Het
Chtf18 A T 17: 25,941,249 (GRCm39) probably null Het
Cog2 C A 8: 125,264,621 (GRCm39) N333K probably damaging Het
Col6a5 T A 9: 105,758,625 (GRCm39) R2194* probably null Het
Dnah14 A T 1: 181,535,098 (GRCm39) I2355L probably benign Het
Dock8 G A 19: 25,151,697 (GRCm39) probably null Het
Dpy19l3 A C 7: 35,394,734 (GRCm39) D601E probably damaging Het
Elf1 G A 14: 79,808,163 (GRCm39) G205E probably damaging Het
Fsip2 A T 2: 82,817,256 (GRCm39) K4330* probably null Het
Gm6525 A T 3: 84,082,150 (GRCm39) T24S probably benign Het
Golga4 G T 9: 118,386,643 (GRCm39) R1255L probably benign Het
Gpn2 A T 4: 133,315,970 (GRCm39) Q243L probably null Het
Grb10 T C 11: 11,883,492 (GRCm39) K588E possibly damaging Het
Gys1 T C 7: 45,104,495 (GRCm39) S641P probably damaging Het
H2-M5 T A 17: 37,298,323 (GRCm39) M331L probably benign Het
Ighv6-6 T A 12: 114,398,837 (GRCm39) I10L probably benign Het
Jmy C T 13: 93,579,107 (GRCm39) R675Q probably damaging Het
Lonp2 A T 8: 87,392,386 (GRCm39) Q484L probably benign Het
Map3k20 T A 2: 72,228,705 (GRCm39) L308H probably damaging Het
Mier1 A G 4: 102,996,637 (GRCm39) E133G possibly damaging Het
Msh3 C A 13: 92,349,011 (GRCm39) V1074L probably benign Het
Muc6 A T 7: 141,224,247 (GRCm39) L1645Q unknown Het
Nat10 G A 2: 103,573,435 (GRCm39) A354V probably damaging Het
Or8b12i A G 9: 20,082,549 (GRCm39) L106P possibly damaging Het
Pdyn A T 2: 129,531,748 (GRCm39) V14E possibly damaging Het
Prdm16 T A 4: 154,429,901 (GRCm39) H356L probably damaging Het
Rasa3 A G 8: 13,634,961 (GRCm39) C453R probably benign Het
Rasgrf2 C T 13: 92,267,914 (GRCm39) S30N possibly damaging Het
Rlf A G 4: 121,016,393 (GRCm39) S315P probably damaging Het
Rusc2 C T 4: 43,425,335 (GRCm39) R1147W possibly damaging Het
Sacs T A 14: 61,440,320 (GRCm39) Y789N probably damaging Het
Sap130 T C 18: 31,786,676 (GRCm39) L289P probably damaging Het
Septin3 A G 15: 82,174,983 (GRCm39) Y308C probably damaging Het
Slc2a12 A G 10: 22,569,893 (GRCm39) D528G probably damaging Het
Slc2a13 A G 15: 91,156,359 (GRCm39) *638Q probably null Het
Smchd1 T A 17: 71,697,474 (GRCm39) E1155D probably benign Het
Sorcs2 G A 5: 36,555,296 (GRCm39) R32C probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Tonsl C T 15: 76,517,852 (GRCm39) D650N probably damaging Het
Tti1 A T 2: 157,850,949 (GRCm39) F97I possibly damaging Het
Ttn T C 2: 76,572,554 (GRCm39) Q26113R possibly damaging Het
Unc5d A T 8: 29,210,003 (GRCm39) N444K probably damaging Het
Usp17la A T 7: 104,510,654 (GRCm39) K420* probably null Het
Vmn2r114 T C 17: 23,527,177 (GRCm39) N452D possibly damaging Het
Vps16 T C 2: 130,282,448 (GRCm39) V427A probably benign Het
Wdr5b T A 16: 35,862,712 (GRCm39) V277D probably damaging Het
Zan T A 5: 137,465,370 (GRCm39) M462L possibly damaging Het
Zfp40 A G 17: 23,397,257 (GRCm39) V80A possibly damaging Het
Zfp930 A T 8: 69,681,337 (GRCm39) H344L probably damaging Het
Other mutations in Mep1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Mep1b APN 18 21,217,243 (GRCm39) nonsense probably null
IGL01470:Mep1b APN 18 21,230,524 (GRCm39) missense probably benign 0.26
IGL01866:Mep1b APN 18 21,228,050 (GRCm39) missense probably benign 0.34
IGL02865:Mep1b APN 18 21,226,441 (GRCm39) missense probably benign 0.02
IGL03093:Mep1b APN 18 21,226,710 (GRCm39) missense probably benign 0.01
IGL03126:Mep1b APN 18 21,221,617 (GRCm39) missense probably damaging 1.00
IGL03196:Mep1b APN 18 21,228,121 (GRCm39) missense probably benign 0.01
P0022:Mep1b UTSW 18 21,221,598 (GRCm39) splice site probably benign
R0143:Mep1b UTSW 18 21,228,164 (GRCm39) splice site probably benign
R0743:Mep1b UTSW 18 21,213,515 (GRCm39) missense possibly damaging 0.81
R0961:Mep1b UTSW 18 21,221,786 (GRCm39) nonsense probably null
R1913:Mep1b UTSW 18 21,226,286 (GRCm39) missense probably benign 0.21
R2162:Mep1b UTSW 18 21,219,296 (GRCm39) missense possibly damaging 0.82
R2307:Mep1b UTSW 18 21,221,632 (GRCm39) missense probably damaging 1.00
R3000:Mep1b UTSW 18 21,226,361 (GRCm39) missense probably damaging 0.96
R3833:Mep1b UTSW 18 21,219,296 (GRCm39) missense possibly damaging 0.82
R3862:Mep1b UTSW 18 21,217,226 (GRCm39) missense possibly damaging 0.56
R3863:Mep1b UTSW 18 21,217,226 (GRCm39) missense possibly damaging 0.56
R3864:Mep1b UTSW 18 21,217,226 (GRCm39) missense possibly damaging 0.56
R4171:Mep1b UTSW 18 21,228,163 (GRCm39) splice site probably null
R4774:Mep1b UTSW 18 21,219,241 (GRCm39) missense probably benign 0.24
R4798:Mep1b UTSW 18 21,226,311 (GRCm39) missense probably damaging 0.99
R5411:Mep1b UTSW 18 21,219,306 (GRCm39) missense probably damaging 1.00
R6952:Mep1b UTSW 18 21,221,727 (GRCm39) missense probably benign 0.00
R7056:Mep1b UTSW 18 21,224,247 (GRCm39) missense probably damaging 1.00
R7078:Mep1b UTSW 18 21,233,108 (GRCm39) missense probably benign 0.35
R7217:Mep1b UTSW 18 21,226,600 (GRCm39) missense probably benign 0.01
R7843:Mep1b UTSW 18 21,228,110 (GRCm39) missense probably damaging 1.00
R8103:Mep1b UTSW 18 21,222,442 (GRCm39) missense possibly damaging 0.56
R8794:Mep1b UTSW 18 21,224,325 (GRCm39) missense probably damaging 0.96
R8845:Mep1b UTSW 18 21,230,379 (GRCm39) nonsense probably null
R8877:Mep1b UTSW 18 21,221,630 (GRCm39) missense possibly damaging 0.72
R8975:Mep1b UTSW 18 21,208,714 (GRCm39) missense probably benign 0.17
R9352:Mep1b UTSW 18 21,209,431 (GRCm39) missense probably damaging 1.00
R9448:Mep1b UTSW 18 21,217,199 (GRCm39) missense probably damaging 1.00
R9782:Mep1b UTSW 18 21,208,720 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- TGCCTGGGACTACACCATAG -3'
(R):5'- GCAAGACCACATGCTTCCTG -3'

Sequencing Primer
(F):5'- TGGGACTACACCATAGCTCAATAG -3'
(R):5'- AAGACCACATGCTTCCTGTGTTAG -3'
Posted On 2019-10-24