Mutagenetix > Incidental Mutation

Incidental Mutation 'R2086:Mapre3'

229981

Institutional Source

Beutler Lab

Gene Symbol

Mapre3

Ensembl Gene

ENSMUSG00000029166

Gene Name

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

Synonyms

EB3

MMRRC Submission

040091-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30971985-31023450 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to C at 31020546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144591 (fasta)

Gene Model

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

AlphaFold

Q6PER3

Predicted Effect

probably null
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

probably null
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

probably null
Transcript: ENSMUST00000114724

SMART Domains

Protein: ENSMUSP00000110372
Gene: ENSMUSG00000029166

Domain	Start	End	E-Value	Type
Pfam:CH	17	116	1.2e-13	PFAM
low complexity region	186	199	N/A	INTRINSIC
Pfam:EB1	203	242	8.7e-21	PFAM
low complexity region	251	265	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000126284

SMART Domains

Protein: ENSMUSP00000114823
Gene: ENSMUSG00000029166

Domain	Start	End	E-Value	Type
Pfam:CH	17	116	2.4e-12	PFAM

Predicted Effect

probably null
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

probably null
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

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

probably null
Transcript: ENSMUST00000202501

SMART Domains

Protein: ENSMUSP00000144591
Gene: ENSMUSG00000029166

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

Predicted Effect

probably null
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: ENSMUST00000202256

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,767 (GRCm39)	M53T	unknown	Het
Abcb11	T	A	2: 69,089,820 (GRCm39)		probably benign	Het
Acap2	C	G	16: 30,929,763 (GRCm39)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,146,249 (GRCm39)	R302G	probably damaging	Het
Aoc1l1	A	G	6: 48,954,536 (GRCm39)	E558G	probably damaging	Het
Ap2b1	T	G	11: 83,241,944 (GRCm39)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,171,116 (GRCm39)	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,734,834 (GRCm39)	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,468,304 (GRCm39)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,623,810 (GRCm39)	V37D	probably damaging	Het
Cacna1d	T	C	14: 29,769,314 (GRCm39)	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,148,570 (GRCm39)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,349 (GRCm39)	E256G	probably damaging	Het
Cd5	A	G	19: 10,700,620 (GRCm39)	S295P	probably benign	Het
Cenpb	T	C	2: 131,020,517 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 64,942,076 (GRCm39)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,644,786 (GRCm39)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm39)		probably benign	Het
Csnk2a1	A	G	2: 152,096,201 (GRCm39)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,011,733 (GRCm39)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,981,116 (GRCm39)	Q98L	probably null	Het
Dnah11	G	T	12: 118,077,606 (GRCm39)	Q1296K	possibly damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Eid2b	C	T	7: 27,977,198 (GRCm39)		probably benign	Het
Exoc1	A	T	5: 76,680,693 (GRCm39)	K28*	probably null	Het
Fam114a1	A	G	5: 65,137,402 (GRCm39)	D115G	probably benign	Het
Fam151a	A	T	4: 106,592,760 (GRCm39)		probably null	Het
Gc	T	C	5: 89,586,201 (GRCm39)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 86,926,094 (GRCm39)	Y284H	probably benign	Het
Gm21957	T	A	7: 124,818,878 (GRCm39)		noncoding transcript	Het
Golm1	G	A	13: 59,792,999 (GRCm39)	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281 (GRCm39)	V813A	probably damaging	Het
Itih1	C	T	14: 30,659,800 (GRCm39)	A279T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama1	T	C	17: 68,124,618 (GRCm39)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,657,887 (GRCm39)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,472,642 (GRCm39)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,228,729 (GRCm39)	K316R	probably benign	Het
Mgam	T	A	6: 40,737,962 (GRCm39)		probably null	Het
Mical2	A	C	7: 111,917,810 (GRCm39)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,711,248 (GRCm39)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nodal	A	T	10: 61,259,077 (GRCm39)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,009,683 (GRCm39)	S537P	probably damaging	Het
Obox6	A	G	7: 15,567,532 (GRCm39)	L305S	probably damaging	Het
Obscn	T	C	11: 58,969,082 (GRCm39)	D2715G	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5g26	A	C	2: 85,494,090 (GRCm39)	S229R	probably benign	Het
Pcca	T	C	14: 122,923,527 (GRCm39)	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,334,906 (GRCm39)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,516,044 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,101,619 (GRCm39)	N72S	probably benign	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Pygm	G	A	19: 6,441,511 (GRCm39)		probably null	Het
Rab7	C	T	6: 87,989,300 (GRCm39)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,009,431 (GRCm39)		probably null	Het
Rergl	T	C	6: 139,471,832 (GRCm39)	T106A	probably benign	Het
Rnf17	T	G	14: 56,720,837 (GRCm39)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,633,126 (GRCm39)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,600,280 (GRCm39)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,585,874 (GRCm39)	T140A	possibly damaging	Het
Sbno2	T	A	10: 79,893,690 (GRCm39)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,641,521 (GRCm39)	I68N	probably damaging	Het
Slc35a5	A	G	16: 44,964,628 (GRCm39)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,651,772 (GRCm39)	S93W	probably damaging	Het
Slc49a3	C	T	5: 108,593,487 (GRCm39)	R117H	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Spag1	T	C	15: 36,227,287 (GRCm39)	L648P	probably damaging	Het
Tagap1	T	C	17: 7,224,102 (GRCm39)	D198G	probably benign	Het
Tedc2	T	C	17: 24,436,874 (GRCm39)	E287G	probably damaging	Het
Tjp1	C	A	7: 64,962,669 (GRCm39)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ttc38	T	A	15: 85,722,928 (GRCm39)	D125E	probably benign	Het
Uggt1	C	T	1: 36,231,495 (GRCm39)	R490Q	probably null	Het
Uroc1	T	G	6: 90,321,096 (GRCm39)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,997,455 (GRCm39)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,896,949 (GRCm39)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,857,571 (GRCm39)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm39)	L932P	probably 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
R1447:Mapre3	UTSW	5	31,019,151 (GRCm39)	splice site	probably benign
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
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

PCR Primer
(F):5'- TCACATACAGGGGAGGTCAC -3'
(R):5'- GTTGAAGATCTGATCACCTGGG -3'

Sequencing Primer
(F):5'- ACAATATTTTCCCGGGCCTGTAGG -3'
(R):5'- GTTAGGAGGTGGTGCTACGTCC -3'

Posted On

2014-09-18