Mutagenetix > Incidental Mutation

Incidental Mutation 'R5411:Mep1b'

427505

Institutional Source

Beutler Lab

Gene Symbol

Mep1b

Ensembl Gene

ENSMUSG00000024313

Gene Name

meprin 1 beta

Synonyms

Mep-1b, meprin beta

MMRRC Submission

042980-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R5411 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21205401-21233256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21219306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 153 (H153Q)

Ref Sequence

ENSEMBL: ENSMUSP00000080866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082235]

AlphaFold

Q61847

Predicted Effect

probably damaging
Transcript: ENSMUST00000082235
AA Change: H153Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080866
Gene: ENSMUSG00000024313
AA Change: H153Q

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	A	9: 53,493,946 (GRCm39)	V392F	probably damaging	Het
Ache	C	T	5: 137,288,326 (GRCm39)	P11S	possibly damaging	Het
Ache	T	A	5: 137,288,692 (GRCm39)		probably null	Het
Acoxl	A	T	2: 127,696,821 (GRCm39)	H23L	probably benign	Het
Adamtsl1	G	A	4: 86,306,650 (GRCm39)		probably null	Het
Adar	T	A	3: 89,646,519 (GRCm39)	F45I	probably benign	Het
Adgrf4	A	C	17: 42,978,104 (GRCm39)	L413R	probably damaging	Het
Atp6v1g3	A	T	1: 138,215,627 (GRCm39)	I96F	probably benign	Het
Brsk2	T	C	7: 141,554,594 (GRCm39)	M653T	probably benign	Het
Cacna1s	G	T	1: 136,033,549 (GRCm39)	V1275L	probably benign	Het
Ces3b	T	C	8: 105,815,264 (GRCm39)	V5A	possibly damaging	Het
Chpt1	A	T	10: 88,312,969 (GRCm39)	I281N	probably damaging	Het
Col10a1	A	G	10: 34,270,553 (GRCm39)	E175G	probably damaging	Het
Col27a1	T	C	4: 63,142,902 (GRCm39)	S197P	probably damaging	Het
Csmd1	T	A	8: 15,960,471 (GRCm39)	R3315W	probably damaging	Het
Ctnna2	T	C	6: 77,091,914 (GRCm39)	E443G	probably damaging	Het
Dhx9	G	T	1: 153,356,969 (GRCm39)	S93R	probably benign	Het
Efcab8	A	G	2: 153,625,676 (GRCm39)	H112R	probably damaging	Het
Eif3d	A	T	15: 77,843,887 (GRCm39)	N486K	probably damaging	Het
Esp8	C	T	17: 40,840,909 (GRCm39)	R57*	probably null	Het
Eya3	A	T	4: 132,417,090 (GRCm39)	I130F	probably damaging	Het
Fat2	G	T	11: 55,143,052 (GRCm39)	L4266I	probably benign	Het
Fras1	T	A	5: 96,793,019 (GRCm39)	D983E	probably benign	Het
Gcc2	T	C	10: 58,106,791 (GRCm39)	S640P	probably damaging	Het
Gys2	C	T	6: 142,394,147 (GRCm39)	G464R	probably damaging	Het
Heatr5a	G	A	12: 51,935,026 (GRCm39)	T1659I	probably damaging	Het
Il17ra	A	G	6: 120,458,403 (GRCm39)	D518G	probably damaging	Het
Kcnk13	A	G	12: 100,027,510 (GRCm39)	Y195C	probably damaging	Het
Kmt2a	T	A	9: 44,759,782 (GRCm39)	H722L	probably damaging	Het
Luzp1	C	A	4: 136,270,653 (GRCm39)	Q959K	possibly damaging	Het
Mfsd13b	A	T	7: 120,599,346 (GRCm39)	I381F	probably benign	Het
Mvk	A	G	5: 114,597,034 (GRCm39)	T334A	probably benign	Het
Naa30	T	C	14: 49,425,008 (GRCm39)	V320A	probably damaging	Het
Naip5	C	T	13: 100,382,254 (GRCm39)	G152S	possibly damaging	Het
Neb	A	C	2: 52,185,384 (GRCm39)	S949R	probably damaging	Het
Nfya	A	T	17: 48,699,046 (GRCm39)	I214N	possibly damaging	Het
Nsf	G	T	11: 103,773,637 (GRCm39)	N292K	probably damaging	Het
Nup133	T	C	8: 124,653,945 (GRCm39)	T505A	probably benign	Het
Or4c1	A	C	2: 89,133,920 (GRCm39)	S5R	probably benign	Het
Or4p7	A	G	2: 88,221,605 (GRCm39)	T5A	probably benign	Het
Or5h24	T	A	16: 58,919,067 (GRCm39)	H96L	unknown	Het
Or9s23	A	T	1: 92,501,546 (GRCm39)	T218S	probably benign	Het
P4ha3	A	T	7: 99,943,022 (GRCm39)	R136W	probably damaging	Het
Parp12	A	G	6: 39,067,142 (GRCm39)	V550A	probably damaging	Het
Phf11a	T	C	14: 59,532,387 (GRCm39)	D16G	probably benign	Het
Pramel31	T	A	4: 144,088,207 (GRCm39)	M1K	probably null	Het
Rab3gap2	A	G	1: 185,009,342 (GRCm39)		probably null	Het
Sco1	A	G	11: 66,954,784 (GRCm39)	D263G	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sfpq	T	A	4: 126,915,516 (GRCm39)	S103T	unknown	Het
Shisa7	G	A	7: 4,832,975 (GRCm39)	R263C	probably damaging	Het
Ssc4d	T	A	5: 135,992,254 (GRCm39)	D144V	probably benign	Het
Stxbp5l	G	A	16: 36,950,213 (GRCm39)	P1044L	probably damaging	Het
Tgm6	G	A	2: 129,987,116 (GRCm39)	R528Q	probably benign	Het
Tlr3	A	T	8: 45,849,992 (GRCm39)	H892Q	probably benign	Het
Tmc2	A	G	2: 130,082,035 (GRCm39)	H406R	probably damaging	Het
Tmtc1	A	T	6: 148,345,397 (GRCm39)		probably null	Het
Ttc19	A	G	11: 62,174,977 (GRCm39)	I139M	probably benign	Het
Utrn	G	A	10: 12,524,929 (GRCm39)	R2185C	probably benign	Het
Wdfy4	T	C	14: 32,681,959 (GRCm39)	N3004S	probably damaging	Het
Wdr3	C	A	3: 100,050,300 (GRCm39)	G746W	probably damaging	Het
Zfp335	T	A	2: 164,744,165 (GRCm39)	Q500L	probably damaging	Het
Zfp804b	A	T	5: 6,820,071 (GRCm39)	D961E	probably benign	Het
Zkscan16	CTTCAGCTTTCA	CTTCA	4: 58,956,745 (GRCm39)		probably null	Het

Other mutations in Mep1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7641:Mep1b	UTSW	18	21,228,034 (GRCm39)	missense	possibly damaging	0.47
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'- GAGCGCAATTCAATGTTGTTG -3'
(R):5'- GACATGATGAAGTGTATCTGGTCTC -3'

Sequencing Primer
(F):5'- CGCAATTCAATGTTGTTGTGCAG -3'
(R):5'- TGAAGTGTATCTGGTCTCCAAACACC -3'

Posted On

2016-09-01