Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Mepe'

255461

Institutional Source

Beutler Lab

Gene Symbol

Mepe

Ensembl Gene

ENSMUSG00000053863

Gene Name

matrix extracellular phosphoglycoprotein with ASARM motif (bone)

Synonyms

OF45

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R2920 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

104473195-104486477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104486113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 418 (R418C)

Ref Sequence

ENSEMBL: ENSMUSP00000065200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066207]

AlphaFold

Q8K4L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066207
AA Change: R418C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065200
Gene: ENSMUSG00000053863
AA Change: R418C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Osteoregulin	29	192	4.2e-76	PFAM
low complexity region	257	272	N/A	INTRINSIC
low complexity region	426	438	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have increased amounts of trabecular bone in their skeleton and undergo less age related bone loss. Otherwise, they display a normal phenotype. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,265,987 (GRCm39)	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,596,984 (GRCm39)	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,033,749 (GRCm39)	T621I	probably damaging	Het
Atp2b3	A	C	X: 72,577,526 (GRCm39)	T318P	probably benign	Het
Atrx	A	T	X: 104,874,474 (GRCm39)	V1962D	probably benign	Het
Chl1	C	A	6: 103,672,304 (GRCm39)	T531K	probably damaging	Het
Clca3b	T	A	3: 144,543,614 (GRCm39)	D405V	probably benign	Het
Clca3b	C	T	3: 144,552,692 (GRCm39)	D115N	probably benign	Het
Comtd1	A	G	14: 21,897,686 (GRCm39)	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,939,325 (GRCm39)	V108A	probably benign	Het
Crebbp	A	G	16: 3,936,946 (GRCm39)	V343A	probably damaging	Het
Edrf1	T	A	7: 133,269,301 (GRCm39)	D1109E	probably benign	Het
Elmo3	A	G	8: 106,034,691 (GRCm39)	E359G	possibly damaging	Het
Ep400	C	A	5: 110,903,780 (GRCm39)	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,891,284 (GRCm39)	N516S	probably damaging	Het
Glb1l	T	A	1: 75,185,834 (GRCm39)	E31D	probably benign	Het
Hdac1-ps	A	G	17: 78,800,275 (GRCm39)	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,337,552 (GRCm39)	V110I	probably damaging	Het
Ints3	T	C	3: 90,300,469 (GRCm39)	E884G	probably benign	Het
Lin7b	A	G	7: 45,017,821 (GRCm39)	V170A	possibly damaging	Het
Lrch2	A	T	X: 146,256,026 (GRCm39)	V750E	probably damaging	Het
Mettl25	A	T	10: 105,601,038 (GRCm39)		probably null	Het
Mphosph9	G	A	5: 124,399,069 (GRCm39)	T982I	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,226 (GRCm39)	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,778,501 (GRCm39)	K445R	probably damaging	Het
Ntng2	T	C	2: 29,094,223 (GRCm39)	M383V	probably benign	Het
Or13n4	C	T	7: 106,423,571 (GRCm39)	R54Q	probably benign	Het
Or2z2	T	C	11: 58,346,403 (GRCm39)	Y124C	probably damaging	Het
Or7a37	A	C	10: 78,805,846 (GRCm39)	D121A	probably damaging	Het
Pak6	A	T	2: 118,524,488 (GRCm39)		probably benign	Het
Pcdh8	G	T	14: 80,006,154 (GRCm39)	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,489,138 (GRCm39)	V286I	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rint1	A	G	5: 24,010,400 (GRCm39)	E203G	probably benign	Het
Sdf2	G	C	11: 78,145,680 (GRCm39)	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,138,617 (GRCm39)	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,201,512 (GRCm39)	S669*	probably null	Het
Slc38a7	A	G	8: 96,572,571 (GRCm39)	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,241,369 (GRCm39)	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,098 (GRCm39)	V60A	probably benign	Het
Tcerg1l	T	C	7: 137,850,108 (GRCm39)	R422G	probably damaging	Het
Tmem107	T	C	11: 68,962,247 (GRCm39)	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,273,266 (GRCm39)	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,381,909 (GRCm39)	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,060,973 (GRCm39)	I204L	probably benign	Het
Zbtb1	T	A	12: 76,432,619 (GRCm39)	S202T	possibly damaging	Het

Other mutations in Mepe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Mepe	APN	5	104,485,843 (GRCm39)	missense	probably damaging	1.00
IGL01896:Mepe	APN	5	104,486,135 (GRCm39)	missense	possibly damaging	0.85
IGL01997:Mepe	APN	5	104,485,466 (GRCm39)	missense	probably damaging	1.00
IGL02311:Mepe	APN	5	104,485,571 (GRCm39)	missense	probably damaging	0.98
IGL02586:Mepe	APN	5	104,485,316 (GRCm39)	missense	probably benign	0.39
F6893:Mepe	UTSW	5	104,485,242 (GRCm39)	missense	possibly damaging	0.87
R1187:Mepe	UTSW	5	104,486,114 (GRCm39)	missense	probably damaging	0.98
R1218:Mepe	UTSW	5	104,474,939 (GRCm39)	missense	probably benign
R1633:Mepe	UTSW	5	104,485,540 (GRCm39)	missense	probably benign	0.25
R2024:Mepe	UTSW	5	104,474,957 (GRCm39)	missense	possibly damaging	0.72
R2026:Mepe	UTSW	5	104,474,957 (GRCm39)	missense	possibly damaging	0.72
R2027:Mepe	UTSW	5	104,474,957 (GRCm39)	missense	possibly damaging	0.72
R2393:Mepe	UTSW	5	104,485,327 (GRCm39)	missense	possibly damaging	0.95
R3040:Mepe	UTSW	5	104,485,988 (GRCm39)	missense	probably damaging	0.99
R3716:Mepe	UTSW	5	104,485,294 (GRCm39)	missense	probably benign	0.25
R3973:Mepe	UTSW	5	104,484,944 (GRCm39)	missense	probably benign
R3976:Mepe	UTSW	5	104,484,944 (GRCm39)	missense	probably benign
R4894:Mepe	UTSW	5	104,473,268 (GRCm39)	missense	probably damaging	0.98
R5556:Mepe	UTSW	5	104,486,078 (GRCm39)	missense	probably damaging	1.00
R6256:Mepe	UTSW	5	104,484,940 (GRCm39)	missense	probably benign	0.01
R6788:Mepe	UTSW	5	104,486,074 (GRCm39)	nonsense	probably null
R7361:Mepe	UTSW	5	104,485,009 (GRCm39)	missense	probably benign	0.41
R8431:Mepe	UTSW	5	104,486,047 (GRCm39)	missense	possibly damaging	0.91
R8679:Mepe	UTSW	5	104,485,754 (GRCm39)	missense	possibly damaging	0.91
R8745:Mepe	UTSW	5	104,485,525 (GRCm39)	missense	possibly damaging	0.93
R8817:Mepe	UTSW	5	104,485,151 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GCAGCAAAGGTAGCTCTAGC -3'
(R):5'- TAGCACAATGTCCTGGAGGG -3'

Sequencing Primer
(F):5'- TTGACTGCAAGCCAAAGATTTCCAG -3'
(R):5'- GGACCAGGTCTGTTGGC -3'

Posted On

2014-12-29