Mutagenetix > Incidental Mutation

Incidental Mutation 'R4774:Mep1b'

367809

Institutional Source

Beutler Lab

Gene Symbol

Mep1b

Ensembl Gene

ENSMUSG00000024313

Gene Name

meprin 1 beta

Synonyms

Mep-1b, meprin beta

MMRRC Submission

042412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R4774 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21205401-21233256 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21219241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 132 (I132F)

Ref Sequence

ENSEMBL: ENSMUSP00000080866 (fasta)

Gene Model

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

AlphaFold

Q61847

Predicted Effect

probably benign
Transcript: ENSMUST00000082235
AA Change: I132F

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080866
Gene: ENSMUSG00000024313
AA Change: I132F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (97/99)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,585,043 (GRCm39)	I844V	probably damaging	Het
Acnat1	T	A	4: 49,450,784 (GRCm39)	Y109F	probably benign	Het
Alox12b	T	C	11: 69,054,033 (GRCm39)	V205A	probably benign	Het
Arl6ip1	G	A	7: 117,721,208 (GRCm39)	R77C	probably damaging	Het
Atp8b1	A	G	18: 64,666,730 (GRCm39)	C1156R	possibly damaging	Het
Atp8b3	A	C	10: 80,372,156 (GRCm39)	N24K	probably damaging	Het
Bdh1	T	C	16: 31,273,954 (GRCm39)	V209A	possibly damaging	Het
Blm	A	T	7: 80,113,596 (GRCm39)	C1234S	probably damaging	Het
Caml	A	G	13: 55,779,740 (GRCm39)	D271G	possibly damaging	Het
Capn11	T	C	17: 45,944,006 (GRCm39)	D545G	probably benign	Het
Catspere1	T	C	1: 177,765,304 (GRCm39)		noncoding transcript	Het
Cep128	T	C	12: 91,200,969 (GRCm39)	E347G	probably damaging	Het
Cngb3	A	G	4: 19,415,713 (GRCm39)	T408A	possibly damaging	Het
Coa8	A	G	12: 111,679,823 (GRCm39)	T33A	possibly damaging	Het
Cog1	G	A	11: 113,548,253 (GRCm39)	R18Q	possibly damaging	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Csmd1	T	C	8: 16,059,369 (GRCm39)	H2122R	probably benign	Het
Ctu2	T	G	8: 123,207,851 (GRCm39)	S26A	probably benign	Het
Dbf4	G	A	5: 8,453,062 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,116 (GRCm39)	D663E	probably benign	Het
Dpep2	T	C	8: 106,717,388 (GRCm39)	T123A	possibly damaging	Het
Eed	A	G	7: 89,613,976 (GRCm39)	I274T	probably damaging	Het
Eif3b	A	G	5: 140,405,255 (GRCm39)	D47G	probably benign	Het
Epas1	T	C	17: 87,113,186 (GRCm39)	V124A	probably damaging	Het
Fer1l6	T	C	15: 58,449,798 (GRCm39)	L668P	probably damaging	Het
Fnip2	C	A	3: 79,373,028 (GRCm39)	E1017*	probably null	Het
Gm43517	A	T	12: 49,436,690 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,491,345 (GRCm39)		probably null	Het
H2-Eb2	T	A	17: 34,553,375 (GRCm39)	V187E	probably damaging	Het
H2-Q1	T	C	17: 35,540,242 (GRCm39)		probably benign	Het
Hpgd	T	C	8: 56,751,454 (GRCm39)	V94A	probably damaging	Het
Htra1	T	A	7: 130,586,756 (GRCm39)	N446K	probably benign	Het
Igkv3-4	T	A	6: 70,649,269 (GRCm39)	S89R	probably damaging	Het
Immt	C	T	6: 71,829,720 (GRCm39)	T142I	probably damaging	Het
Itpkb	C	A	1: 180,245,759 (GRCm39)	P759T	probably damaging	Het
Jmjd1c	G	A	10: 67,060,571 (GRCm39)	V688I	possibly damaging	Het
Kbtbd13	G	T	9: 65,298,025 (GRCm39)	R304S	probably benign	Het
Lama5	A	C	2: 179,827,734 (GRCm39)	L2176R	probably damaging	Het
Lrp1b	G	C	2: 40,551,544 (GRCm39)	L418V	probably null	Het
Lrrc4b	C	A	7: 44,111,796 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,915,182 (GRCm39)	N3292S	probably damaging	Het
Mettl2	A	G	11: 105,017,436 (GRCm39)		probably null	Het
Nherf2	T	C	17: 24,863,873 (GRCm39)	M1V	probably null	Het
Niban1	A	T	1: 151,591,445 (GRCm39)	D529V	probably damaging	Het
Nmd3	T	C	3: 69,652,569 (GRCm39)	L385S	probably benign	Het
Nol4	T	C	18: 23,045,683 (GRCm39)	E243G	probably damaging	Het
Odad1	T	A	7: 45,597,804 (GRCm39)	S571R	probably damaging	Het
Or4l1	T	A	14: 50,166,726 (GRCm39)	I92F	probably damaging	Het
Or51k1	A	G	7: 103,661,795 (GRCm39)	I38T	probably benign	Het
Or5j3	A	T	2: 86,129,042 (GRCm39)	N294I	possibly damaging	Het
Or8b52	A	G	9: 38,576,519 (GRCm39)	I207T	probably benign	Het
Pcnp	A	G	16: 55,837,522 (GRCm39)		probably benign	Het
Pla2g6	A	C	15: 79,171,818 (GRCm39)	C680G	probably damaging	Het
Plekha7	G	T	7: 115,744,178 (GRCm39)	D661E	probably damaging	Het
Prim1	A	T	10: 127,862,887 (GRCm39)		probably benign	Het
Psg29	T	A	7: 16,944,460 (GRCm39)	N323K	probably benign	Het
Ptrh2	G	A	11: 86,580,833 (GRCm39)	R150H	probably damaging	Het
Rasa1	A	G	13: 85,398,621 (GRCm39)		probably benign	Het
Rasa3	T	C	8: 13,627,501 (GRCm39)	D667G	probably benign	Het
Rnase2a	T	C	14: 51,493,201 (GRCm39)	N55D	probably damaging	Het
Rsf1	GCGGCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,123 (GRCm39)		probably benign	Het
Sbp	T	A	17: 24,164,218 (GRCm39)	N133K	probably damaging	Het
Scml4	A	G	10: 42,833,743 (GRCm39)		probably benign	Het
Sema5b	T	A	16: 35,483,552 (GRCm39)	N1063K	probably damaging	Het
Serpind1	C	T	16: 17,154,272 (GRCm39)	T33M	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc15a2	A	T	16: 36,602,057 (GRCm39)	L80*	probably null	Het
Sorcs3	A	G	19: 48,782,602 (GRCm39)	D1039G	probably benign	Het
Spon1	A	G	7: 113,639,102 (GRCm39)	E776G	probably damaging	Het
Tdp1	C	T	12: 99,868,623 (GRCm39)	A259V	possibly damaging	Het
Tex46	C	A	4: 136,337,991 (GRCm39)	P61Q	probably benign	Het
Tnr	T	A	1: 159,724,636 (GRCm39)	L1109Q	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpra1	G	A	6: 88,887,661 (GRCm39)		probably benign	Het
Trim43c	A	T	9: 88,729,705 (GRCm39)	H383L	possibly damaging	Het
Trip6	A	G	5: 137,308,433 (GRCm39)	C439R	probably damaging	Het
Tsen2	C	T	6: 115,552,894 (GRCm39)	S398L	possibly damaging	Het
Tubgcp2	T	C	7: 139,576,074 (GRCm39)	D863G	probably damaging	Het
Ube2d2a	A	G	18: 35,903,498 (GRCm39)		probably benign	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc5c	A	T	3: 141,534,278 (GRCm39)	E933V	probably damaging	Het
Vmn1r208	A	G	13: 22,956,646 (GRCm39)	F284L	probably benign	Het
Vmn2r53	T	A	7: 12,334,692 (GRCm39)	R323*	probably null	Het
Zan	G	A	5: 137,387,281 (GRCm39)	T4924I	unknown	Het
Zfp597	G	T	16: 3,683,851 (GRCm39)	Q302K	probably benign	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
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
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'- AAGGTTTGTAATGAAGAGTGCTG -3'
(R):5'- TGTAAGAGAAACATACCTGGCTG -3'

Sequencing Primer
(F):5'- CAGATTTCCAGAGCAGCCATGTTG -3'
(R):5'- GAGAAACATACCTGGCTGAATCCTG -3'

Posted On

2015-12-29