Mutagenetix > Incidental Mutation

Incidental Mutation 'R1447:Mapre3'

262790

Institutional Source

Beutler Lab

Gene Symbol

Mapre3

Ensembl Gene

ENSMUSG00000029166

Gene Name

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

Synonyms

EB3

MMRRC Submission

039502-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R1447 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

30971985-31023450 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 31019151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144591 (fasta)

Gene Model

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

AlphaFold

Q6PER3

Predicted Effect

probably benign
Transcript: ENSMUST00000031058

SMART Domains

Protein: ENSMUSP00000031058
Gene: ENSMUSG00000029166

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

noncoding transcript
Transcript: ENSMUST00000123334
AA Change: S47F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146459
AA Change: S56F

Predicted Effect

probably benign
Transcript: ENSMUST00000200692

SMART Domains

Protein: ENSMUSP00000143890
Gene: ENSMUSG00000029166

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

noncoding transcript
Transcript: ENSMUST00000201347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202025

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

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 84.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,263,447 (GRCm39)	D603V	probably benign	Het
Ahnak	A	T	19: 8,984,446 (GRCm39)	E1910V	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amotl1	A	G	9: 14,467,038 (GRCm39)	V704A	probably benign	Het
Ankrd50	A	T	3: 38,509,691 (GRCm39)	V892E	probably damaging	Het
Aoc1	G	A	6: 48,883,176 (GRCm39)	V351I	probably benign	Het
Atp6v1b1	T	C	6: 83,734,924 (GRCm39)	V412A	possibly damaging	Het
Atp8b2	A	T	3: 89,851,477 (GRCm39)	I906N	probably damaging	Het
Bltp1	T	C	3: 37,019,735 (GRCm39)	L2048P	probably damaging	Het
Bnc2	A	G	4: 84,211,457 (GRCm39)	V304A	probably benign	Het
Btaf1	A	G	19: 36,969,854 (GRCm39)	D1176G	probably benign	Het
C1qtnf3	G	A	15: 10,952,735 (GRCm39)	G66R	probably damaging	Het
Ccdc162	T	C	10: 41,456,243 (GRCm39)	E360G	probably damaging	Het
Csmd1	C	A	8: 15,975,306 (GRCm39)	G2968*	probably null	Het
Cyp2j7	A	T	4: 96,083,530 (GRCm39)	F473L	possibly damaging	Het
Ddx24	T	C	12: 103,390,566 (GRCm39)	K142E	possibly damaging	Het
Dnah1	A	T	14: 31,028,855 (GRCm39)	M625K	probably benign	Het
Dnah9	A	T	11: 65,999,308 (GRCm39)	Y944N	possibly damaging	Het
Eef1akmt1	T	A	14: 57,803,441 (GRCm39)	K38*	probably null	Het
Enpp2	C	T	15: 54,782,994 (GRCm39)		probably null	Het
Eps8l1	A	G	7: 4,477,055 (GRCm39)	E508G	probably damaging	Het
Etaa1	A	T	11: 17,896,625 (GRCm39)	D497E	possibly damaging	Het
Fam181b	C	T	7: 92,729,368 (GRCm39)	A47V	probably damaging	Het
Fubp3	T	C	2: 31,490,559 (GRCm39)	V221A	probably damaging	Het
Golga2	T	C	2: 32,187,788 (GRCm39)	V191A	possibly damaging	Het
Haus5	G	T	7: 30,361,216 (GRCm39)		probably null	Het
Hydin	T	C	8: 111,249,798 (GRCm39)	L2247P	probably damaging	Het
Lama5	A	C	2: 179,827,671 (GRCm39)	I2197S	probably damaging	Het
Mast2	C	A	4: 116,169,210 (GRCm39)	M733I	probably benign	Het
Mphosph10	A	T	7: 64,030,698 (GRCm39)	F514I	probably damaging	Het
Mterf3	A	G	13: 67,065,103 (GRCm39)	L266P	probably damaging	Het
Nup205	A	G	6: 35,192,120 (GRCm39)	D1114G	probably benign	Het
Or1ak2	T	G	2: 36,827,788 (GRCm39)	V219G	possibly damaging	Het
Or1e21	A	G	11: 73,344,700 (GRCm39)	F113L	probably benign	Het
Phf24	G	T	4: 42,938,232 (GRCm39)	E119*	probably null	Het
Pik3r5	G	A	11: 68,385,003 (GRCm39)	R636Q	probably benign	Het
Plaat3	G	A	19: 7,556,598 (GRCm39)	R133H	probably benign	Het
Rida	T	A	15: 34,488,757 (GRCm39)	Q45L	possibly damaging	Het
Ros1	T	C	10: 51,974,954 (GRCm39)	T1544A	possibly damaging	Het
Rpl7	T	A	1: 16,172,821 (GRCm39)	Y166F	probably benign	Het
Rps6ka5	A	G	12: 100,544,084 (GRCm39)	I338T	probably benign	Het
Scn3a	A	T	2: 65,300,324 (GRCm39)	N1347K	probably damaging	Het
Serpinb6d	A	G	13: 33,854,739 (GRCm39)	D238G	probably benign	Het
Sh3rf2	T	A	18: 42,234,736 (GRCm39)	I173N	probably benign	Het
Smarcc2	T	C	10: 128,305,660 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,670,070 (GRCm39)	S1531P	possibly damaging	Het
Thsd4	T	C	9: 59,904,496 (GRCm39)	N567D	probably benign	Het
Tmprss13	C	A	9: 45,239,878 (GRCm39)	P62Q	unknown	Het
Tmprss7	T	C	16: 45,501,033 (GRCm39)	Q256R	probably benign	Het
Tssc4	A	G	7: 142,623,892 (GRCm39)	T67A	probably benign	Het
Tssk5	G	A	15: 76,256,304 (GRCm39)	Q372*	probably null	Het
Usp47	G	T	7: 111,673,775 (GRCm39)		probably null	Het
Utp15	A	G	13: 98,389,386 (GRCm39)	I304T	possibly damaging	Het
Vmn1r35	A	C	6: 66,655,890 (GRCm39)	V93G	probably benign	Het
Zfhx3	A	C	8: 109,675,076 (GRCm39)	Q2042P	probably benign	Het
Zfp532	C	A	18: 65,758,061 (GRCm39)	R665S	probably damaging	Het
Zfp976	G	T	7: 42,262,023 (GRCm39)	P605T	possibly damaging	Het
Zfpl1	A	G	19: 6,132,649 (GRCm39)	V125A	possibly damaging	Het

Other mutations in Mapre3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Mapre3	APN	5	31,022,240 (GRCm39)	missense	probably benign	0.15
IGL01391:Mapre3	APN	5	31,022,241 (GRCm39)	missense	probably damaging	1.00
IGL02650:Mapre3	APN	5	31,022,053 (GRCm39)	missense	probably damaging	0.97
capen	UTSW	5	31,022,211 (GRCm39)	missense	probably damaging	1.00
R1272:Mapre3	UTSW	5	31,019,232 (GRCm39)	missense	probably damaging	1.00
R1298:Mapre3	UTSW	5	31,022,211 (GRCm39)	missense	probably damaging	1.00
R1524:Mapre3	UTSW	5	31,019,261 (GRCm39)	missense	probably damaging	0.99
R2006:Mapre3	UTSW	5	31,019,168 (GRCm39)	missense	probably damaging	1.00
R2086:Mapre3	UTSW	5	31,020,546 (GRCm39)	critical splice acceptor site	probably null
R5864:Mapre3	UTSW	5	31,020,582 (GRCm39)	missense	probably damaging	1.00
R6630:Mapre3	UTSW	5	31,019,886 (GRCm39)	missense	probably damaging	0.98
R7348:Mapre3	UTSW	5	31,019,173 (GRCm39)	missense	probably benign	0.05
R8143:Mapre3	UTSW	5	31,020,719 (GRCm39)	missense	possibly damaging	0.54
R9182:Mapre3	UTSW	5	31,022,016 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

Posted On

2015-02-04