Mutagenetix > Incidental Mutation

Incidental Mutation 'R3976:Mepe'

312634

Institutional Source

Beutler Lab

Gene Symbol

Mepe

Ensembl Gene

ENSMUSG00000053863

Gene Name

matrix extracellular phosphoglycoprotein with ASARM motif (bone)

Synonyms

OF45

MMRRC Submission

040842-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R3976 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104473195-104486477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104484944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 28 (P28L)

Ref Sequence

ENSEMBL: ENSMUSP00000065200 (fasta)

Gene Model

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

AlphaFold

Q8K4L6

Predicted Effect

probably benign
Transcript: ENSMUST00000066207
AA Change: P28L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065200
Gene: ENSMUSG00000053863
AA Change: P28L

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,039,615 (GRCm39)	D466G	probably benign	Het
Asb4	A	T	6: 5,390,771 (GRCm39)	M55L	probably benign	Het
Atxn7l1	T	C	12: 33,375,954 (GRCm39)	S10P	probably damaging	Het
Bola3	T	C	6: 83,328,249 (GRCm39)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,255,134 (GRCm39)		probably null	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Cyb5r3	A	G	15: 83,044,330 (GRCm39)	V180A	possibly damaging	Het
Dglucy	A	T	12: 100,807,648 (GRCm39)	T186S	probably benign	Het
Eml5	A	T	12: 98,768,724 (GRCm39)		probably benign	Het
Fam90a1a	G	A	8: 22,451,432 (GRCm39)	D98N	probably damaging	Het
Fbxo16	T	A	14: 65,524,606 (GRCm39)	L42Q	probably damaging	Het
Fbxw16	A	G	9: 109,268,697 (GRCm39)	V231A	probably benign	Het
Fermt3	G	A	19: 6,979,792 (GRCm39)	A447V	possibly damaging	Het
Fignl2	A	G	15: 100,950,467 (GRCm39)	L605P	unknown	Het
Gcsam	T	G	16: 45,440,192 (GRCm39)	N78K	probably damaging	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Gm28042	C	T	2: 119,867,237 (GRCm39)	H218Y	probably benign	Het
Herpud2	A	G	9: 25,021,734 (GRCm39)	V304A	probably damaging	Het
Kcnma1	C	T	14: 24,053,815 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,903,530 (GRCm39)	D251G	probably benign	Het
Mapkbp1	T	C	2: 119,852,339 (GRCm39)	V957A	possibly damaging	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Opn4	C	T	14: 34,319,066 (GRCm39)	R173H	probably benign	Het
Or2k2	A	G	4: 58,785,164 (GRCm39)	L186P	probably damaging	Het
Or4f14	C	T	2: 111,742,951 (GRCm39)	G108D	possibly damaging	Het
Phf8-ps	A	T	17: 33,285,405 (GRCm39)	S466T	probably benign	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Rab18	T	A	18: 6,778,529 (GRCm39)	D53E	probably benign	Het
Rel	A	G	11: 23,692,939 (GRCm39)	S365P	probably benign	Het
Rhbg	C	A	3: 88,151,843 (GRCm39)	G383V	probably damaging	Het
Rnps1-ps	A	T	6: 7,983,149 (GRCm39)		noncoding transcript	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Runx2	T	C	17: 44,920,966 (GRCm39)	T339A	possibly damaging	Het
Ryr3	T	C	2: 112,506,182 (GRCm39)	E3455G	possibly damaging	Het
Serpina1d	A	T	12: 103,734,107 (GRCm39)	S66T	probably benign	Het
Setd3	T	C	12: 108,131,417 (GRCm39)	K3R	possibly damaging	Het
Spg7	A	G	8: 123,806,187 (GRCm39)	D299G	probably damaging	Het
Sptbn5	C	T	2: 119,878,742 (GRCm39)		noncoding transcript	Het
Srcap	A	G	7: 127,148,411 (GRCm39)	T1859A	probably benign	Het
Suox	A	G	10: 128,506,906 (GRCm39)	V374A	probably damaging	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tubal3	C	T	13: 3,982,946 (GRCm39)	S242L	probably benign	Het
Ugt2b1	C	A	5: 87,065,534 (GRCm39)	V502L	probably benign	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
R2920:Mepe	UTSW	5	104,486,113 (GRCm39)	missense	probably damaging	0.99
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
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'- CTTCCATCCCTATTGAGTTGTAGAC -3'
(R):5'- AGACTCTTTACAGGCTGCGTG -3'

Sequencing Primer
(F):5'- CATCCCTATTGAGTTGTAGACTTTAC -3'
(R):5'- TGATATTTCTGAGGAGGGCAGCAC -3'

Posted On

2015-04-30