Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02650:Mapre3'

302096

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mapre3

Ensembl Gene

ENSMUSG00000029166

Gene Name

microtubule-associated protein, RP/EB family, member 3

Synonyms

EB3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

IGL02650

Quality Score

Status

Chromosome

Chromosomal Location

30814641-30866106 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30864709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 187 (I187N)

Ref Sequence

ENSEMBL: ENSMUSP00000143890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031058] [ENSMUST00000114716] [ENSMUST00000200692] [ENSMUST00000201203] [ENSMUST00000202501]

AlphaFold

Q6PER3

Predicted Effect

probably damaging
Transcript: ENSMUST00000031058
AA Change: I202N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166
AA Change: I202N

Domain	Start	End	E-Value	Type
Pfam:CH	14	114	4.1e-10	PFAM
low complexity region	201	214	N/A	INTRINSIC
Pfam:EB1	219	257	1.4e-17	PFAM
low complexity region	266	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114716

SMART Domains

Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC
Pfam:DUF2359	172	638	8e-247	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200692
AA Change: I187N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166
AA Change: I187N

Domain	Start	End	E-Value	Type
Pfam:CH	14	114	2.8e-12	PFAM
low complexity region	186	199	N/A	INTRINSIC
Pfam:EB1	204	242	1.6e-21	PFAM
low complexity region	251	265	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201203

SMART Domains

Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC
Pfam:DUF2359	217	683	6.9e-246	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202256

Predicted Effect

probably benign
Transcript: ENSMUST00000202501

SMART Domains

Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166

Domain	Start	End	E-Value	Type
Pfam:CH	14	114	6.9e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202951

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells fail to exhibit F2r agonist-induced vascular hyper-permeability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,741,537	T586A	probably benign	Het
Acads	G	T	5: 115,112,815	T141N	probably benign	Het
Ankmy1	C	T	1: 92,881,023	R721H	probably damaging	Het
Appl1	A	G	14: 26,950,708	V236A	possibly damaging	Het
Arhgef5	C	T	6: 43,272,935	Q207*	probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp6v0a2	G	T	5: 124,712,362		probably benign	Het
Cenpf	T	C	1: 189,652,473	K2537E	possibly damaging	Het
Cox7a1	A	T	7: 30,185,137	E32V	possibly damaging	Het
Dis3	A	T	14: 99,098,785	M95K	probably benign	Het
Dnah5	A	T	15: 28,289,047		probably benign	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Ghsr	A	T	3: 27,374,855	Q343L	probably benign	Het
Gm3252	T	A	14: 4,746,353	V215E	probably damaging	Het
Gm9979	A	G	13: 40,705,749		noncoding transcript	Het
Grik2	A	T	10: 49,101,235	M867K	probably benign	Het
Grm7	A	G	6: 111,358,958	T777A	probably damaging	Het
Hc	T	A	2: 35,000,874	Q1310L	possibly damaging	Het
Ifi44	A	G	3: 151,745,855	F205L	probably damaging	Het
Igkv4-86	T	C	6: 68,910,633	I40V	probably benign	Het
Jag1	T	C	2: 137,115,585	D69G	possibly damaging	Het
Lrch1	T	C	14: 74,813,698	D333G	probably damaging	Het
Myo15b	T	C	11: 115,886,511		probably null	Het
Nanos2	C	T	7: 18,987,869	P89S	probably damaging	Het
Olfr1214	T	A	2: 88,988,080	M41L	probably benign	Het
Parp16	G	A	9: 65,233,816	V223I	probably damaging	Het
Rnf123	A	G	9: 108,069,748	M231T	probably benign	Het
Suco	C	A	1: 161,848,753		probably benign	Het
Synj1	G	T	16: 90,976,696	T459N	probably benign	Het
Taf4b	C	T	18: 14,841,983	Q732*	probably null	Het
Tas2r102	A	G	6: 132,762,210	N27S	probably null	Het
Tctex1d1	C	A	4: 102,988,606	Q12K	probably benign	Het
Tll1	C	T	8: 64,046,997		probably benign	Het
Vmn1r168	A	G	7: 23,541,491	I258V	probably benign	Het
Vmn2r71	T	A	7: 85,624,327	M783K	probably damaging	Het
Vmn2r98	G	A	17: 19,080,961	V742I	probably benign	Het

Other mutations in Mapre3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Mapre3	APN	5	30864896	missense	probably benign	0.15
IGL01391:Mapre3	APN	5	30864897	missense	probably damaging	1.00
capen	UTSW	5	30864867	missense	probably damaging	1.00
R1272:Mapre3	UTSW	5	30861888	missense	probably damaging	1.00
R1298:Mapre3	UTSW	5	30864867	missense	probably damaging	1.00
R1447:Mapre3	UTSW	5	30861807	splice site	probably benign
R1524:Mapre3	UTSW	5	30861917	missense	probably damaging	0.99
R2006:Mapre3	UTSW	5	30861824	missense	probably damaging	1.00
R2086:Mapre3	UTSW	5	30863202	critical splice acceptor site	probably null
R5864:Mapre3	UTSW	5	30863238	missense	probably damaging	1.00
R6630:Mapre3	UTSW	5	30862542	missense	probably damaging	0.98
R7348:Mapre3	UTSW	5	30861829	missense	probably benign	0.05
R8143:Mapre3	UTSW	5	30863375	missense	possibly damaging	0.54
R9182:Mapre3	UTSW	5	30864672	missense	possibly damaging	0.52

Posted On

2015-04-16