Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Mapre2'

721289

Institutional Source

Beutler Lab

Gene Symbol

Mapre2

Ensembl Gene

ENSMUSG00000024277

Gene Name

microtubule-associated protein, RP/EB family, member 2

Synonyms

C820009F03Rik, D18Abb1e, RP1, EB2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R9563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23885390-24026918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24023981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 325 (E325G)

Ref Sequence

ENSEMBL: ENSMUSP00000025127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025127] [ENSMUST00000115830] [ENSMUST00000165387] [ENSMUST00000170802]

AlphaFold

Q8R001

Predicted Effect

unknown
Transcript: ENSMUST00000025127
AA Change: E325G

SMART Domains

Protein: ENSMUSP00000025127
Gene: ENSMUSG00000024277
AA Change: E325G

Domain	Start	End	E-Value	Type
Pfam:CH	56	156	5.5e-9	PFAM
low complexity region	199	235	N/A	INTRINSIC
Pfam:EB1	260	298	9.2e-19	PFAM
low complexity region	300	325	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000115830
AA Change: E316G

SMART Domains

Protein: ENSMUSP00000111496
Gene: ENSMUSG00000024277
AA Change: E316G

Domain	Start	End	E-Value	Type
Pfam:CH	50	149	1.2e-12	PFAM
low complexity region	190	226	N/A	INTRINSIC
Pfam:EB1	250	289	5.4e-18	PFAM
low complexity region	291	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165387

Predicted Effect

unknown
Transcript: ENSMUST00000170802
AA Change: E283G

SMART Domains

Protein: ENSMUSP00000128040
Gene: ENSMUSG00000024277
AA Change: E283G

Domain	Start	End	E-Value	Type
Pfam:CH	17	116	2.3e-12	PFAM
low complexity region	157	193	N/A	INTRINSIC
Pfam:EB1	217	256	6.1e-18	PFAM
low complexity region	258	283	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,645,009 (GRCm39)	D953E	probably damaging	Het
Acod1	A	C	14: 103,287,109 (GRCm39)	Y80S	probably damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Akna	A	G	4: 63,312,944 (GRCm39)	V393A	probably damaging	Het
Amotl1	T	C	9: 14,473,513 (GRCm39)	K562R	possibly damaging	Het
Amz1	T	A	5: 140,738,133 (GRCm39)	D464E	probably damaging	Het
Anapc1	G	A	2: 128,505,980 (GRCm39)	Q619*	probably null	Het
Arfgef3	C	T	10: 18,522,275 (GRCm39)	G584R	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atr	G	C	9: 95,802,833 (GRCm39)	V1832L	probably damaging	Het
Bsn	T	C	9: 107,984,616 (GRCm39)	D374G		Het
Cap1	A	G	4: 122,758,505 (GRCm39)	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,863,758 (GRCm39)	S562P	probably benign	Het
Ccdc30	T	C	4: 119,250,821 (GRCm39)	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,265,762 (GRCm39)	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,733,782 (GRCm39)	H294L	probably benign	Het
Col6a6	C	A	9: 105,572,952 (GRCm39)	G2185C	probably benign	Het
Col7a1	T	C	9: 108,791,809 (GRCm39)	V1232A	unknown	Het
Copb1	A	G	7: 113,836,034 (GRCm39)	I449T	possibly damaging	Het
Cplane1	T	G	15: 8,216,563 (GRCm39)	L594V	probably benign	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,382 (GRCm39)	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,467 (GRCm39)	L738*	probably null	Het
Cul9	T	A	17: 46,820,897 (GRCm39)	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,151,707 (GRCm39)	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Daam1	A	G	12: 71,992,251 (GRCm39)	E322G	unknown	Het
Dab2ip	T	A	2: 35,609,915 (GRCm39)	L710*	probably null	Het
Degs1l	G	T	1: 180,882,810 (GRCm39)	V191F	possibly damaging	Het
Dph1	T	C	11: 75,076,825 (GRCm39)	T60A	possibly damaging	Het
Eme1	T	C	11: 94,541,339 (GRCm39)	D161G	probably benign	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Eri3	T	A	4: 117,422,013 (GRCm39)	V136E	probably benign	Het
Espl1	T	A	15: 102,228,233 (GRCm39)	I1669N	possibly damaging	Het
Exoc6	T	C	19: 37,588,071 (GRCm39)	I568T	probably damaging	Het
F3	T	A	3: 121,527,822 (GRCm39)	L85H		Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw14	T	C	9: 109,106,335 (GRCm39)	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,483,676 (GRCm39)	N179Y		Het
Foxr1	T	A	9: 44,352,199 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,263,179 (GRCm39)	V452E	possibly damaging	Het
Gdpd4	T	C	7: 97,649,369 (GRCm39)	V450A	probably damaging	Het
Greb1	T	C	12: 16,774,824 (GRCm39)	Y191C	probably benign	Het
H3c11	T	C	13: 21,967,221 (GRCm39)	D107G	probably damaging	Het
Haus3	G	A	5: 34,325,300 (GRCm39)	R120W	probably benign	Het
Herc1	G	T	9: 66,294,193 (GRCm39)		probably null	Het
Hyal2	T	C	9: 107,447,844 (GRCm39)	W166R	probably damaging	Het
Inka1	T	A	9: 107,861,488 (GRCm39)	Y276F	probably benign	Het
Itga7	C	T	10: 128,789,669 (GRCm39)	A1003V	probably damaging	Het
Itga8	T	A	2: 12,165,219 (GRCm39)	I797F	possibly damaging	Het
Kank2	T	C	9: 21,705,852 (GRCm39)	T389A	possibly damaging	Het
Kcnb2	T	A	1: 15,779,737 (GRCm39)	I203N	probably damaging	Het
Kif21b	T	A	1: 136,077,166 (GRCm39)	L396Q	probably damaging	Het
Kng1	T	G	16: 22,879,170 (GRCm39)	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,387,551 (GRCm39)	S288P	probably benign	Het
Lmntd2	A	G	7: 140,790,701 (GRCm39)	S516P		Het
Lrp1b	T	A	2: 41,185,711 (GRCm39)	I1449F		Het
Lrrk2	T	A	15: 91,634,043 (GRCm39)	I1380K	possibly damaging	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Lyst	T	C	13: 13,812,408 (GRCm39)	L940P	probably benign	Het
Man2a2	T	A	7: 80,006,101 (GRCm39)	M996L	probably benign	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Map4k5	A	G	12: 69,863,167 (GRCm39)	V629A	probably benign	Het
Mbnl1	A	G	3: 60,520,715 (GRCm39)	N101S	probably benign	Het
Meltf	T	A	16: 31,703,869 (GRCm39)	C199S	probably damaging	Het
Mmab	T	C	5: 114,574,850 (GRCm39)	E141G	probably benign	Het
Mtcl2	G	A	2: 156,902,182 (GRCm39)	R278C	probably damaging	Het
Mtus2	T	C	5: 148,250,217 (GRCm39)	L1317P		Het
Muc6	T	A	7: 141,217,783 (GRCm39)	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,158,399 (GRCm39)	K784*	probably null	Het
Nek1	A	G	8: 61,577,157 (GRCm39)	E1118G	probably benign	Het
Nrtn	A	G	17: 57,058,416 (GRCm39)	V195A	probably damaging	Het
Nsd3	G	A	8: 26,204,230 (GRCm39)	V420I		Het
Or52e4	T	C	7: 104,706,281 (GRCm39)	L276P	possibly damaging	Het
Or52z13	A	T	7: 103,247,225 (GRCm39)	Q234L	probably benign	Het
Or5ac23	T	C	16: 59,149,765 (GRCm39)	I36V	probably benign	Het
Or5b99	T	A	19: 12,976,983 (GRCm39)	I211N	probably damaging	Het
Or5t9	A	G	2: 86,659,098 (GRCm39)	M1V	probably null	Het
Or6ae1	G	A	7: 139,742,233 (GRCm39)	T210I	probably damaging	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Or8b56	A	T	9: 38,739,014 (GRCm39)	H3L	probably benign	Het
Pde10a	G	T	17: 9,020,710 (GRCm39)	A216S	unknown	Het
Phldb2	T	C	16: 45,645,247 (GRCm39)	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,815,502 (GRCm39)	T1920S		Het
Ptgs2	T	A	1: 149,981,419 (GRCm39)	N567K	probably benign	Het
Pwp1	T	A	10: 85,712,370 (GRCm39)	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,754,668 (GRCm39)	E296G	probably null	Het
Rb1cc1	A	G	1: 6,314,339 (GRCm39)	K337R	probably benign	Het
Rbp3	A	G	14: 33,677,477 (GRCm39)	D475G	probably damaging	Het
Ric3	T	C	7: 108,637,997 (GRCm39)	E253G	possibly damaging	Het
Rictor	A	T	15: 6,797,562 (GRCm39)	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,811,141 (GRCm39)	V174E	possibly damaging	Het
Robo3	A	G	9: 37,340,900 (GRCm39)	F124S	probably damaging	Het
Rrad	A	G	8: 105,355,324 (GRCm39)	F228S	probably damaging	Het
Scn3a	A	T	2: 65,291,595 (GRCm39)	M1717K	probably damaging	Het
Scn3b	A	G	9: 40,193,729 (GRCm39)	D152G	probably benign	Het
Scn5a	C	A	9: 119,315,803 (GRCm39)	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Shprh	T	A	10: 11,042,235 (GRCm39)	Y739*	probably null	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496 (GRCm39)	N508S	probably benign	Het
Slc7a12	A	G	3: 14,564,360 (GRCm39)	I349V	possibly damaging	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,480,841 (GRCm39)	A231V	unknown	Het
Smg1	A	G	7: 117,812,208 (GRCm39)	S52P	unknown	Het
Sorl1	A	G	9: 41,957,893 (GRCm39)	Y584H	probably damaging	Het
Spmip2	A	T	3: 79,356,616 (GRCm39)	M140L	probably benign	Het
Ssbp1	T	A	6: 40,454,968 (GRCm39)	S142R	probably benign	Het
Stard3	A	G	11: 98,270,797 (GRCm39)		probably null	Het
Strn3	G	T	12: 51,674,300 (GRCm39)	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739 (GRCm39)	T195A	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmed5	A	C	5: 108,280,100 (GRCm39)		probably null	Het
Tmem132a	C	T	19: 10,838,960 (GRCm39)	R494H	probably benign	Het
Tom1	A	G	8: 75,787,177 (GRCm39)	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,239,473 (GRCm39)	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,155,945 (GRCm39)	K105N	possibly damaging	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,276,378 (GRCm39)	N786K	probably benign	Het
Trpc3	A	G	3: 36,705,683 (GRCm39)	M504T	probably benign	Het
Ttc28	A	T	5: 111,371,092 (GRCm39)	M545L	probably benign	Het
Uggt1	A	C	1: 36,204,627 (GRCm39)	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,589,880 (GRCm39)	Q679*	probably null	Het
Wdfy4	T	C	14: 32,692,833 (GRCm39)	I2958V		Het
Zbtb37	C	T	1: 160,847,840 (GRCm39)	S389N	possibly damaging	Het
Zfp235	T	C	7: 23,841,669 (GRCm39)	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,765,732 (GRCm39)	C1420S	probably damaging	Het

Other mutations in Mapre2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02557:Mapre2	APN	18	23,966,014 (GRCm39)	missense	probably damaging	0.99
IGL02632:Mapre2	APN	18	23,991,217 (GRCm39)	missense	probably benign
R0005:Mapre2	UTSW	18	23,986,750 (GRCm39)	missense	probably damaging	1.00
R0127:Mapre2	UTSW	18	23,937,232 (GRCm39)	missense	probably benign	0.41
R0892:Mapre2	UTSW	18	23,991,200 (GRCm39)	missense	probably benign	0.07
R1244:Mapre2	UTSW	18	23,986,774 (GRCm39)	missense	probably damaging	0.98
R1631:Mapre2	UTSW	18	23,966,011 (GRCm39)	missense	probably damaging	1.00
R1893:Mapre2	UTSW	18	23,986,774 (GRCm39)	missense	probably damaging	0.98
R4786:Mapre2	UTSW	18	24,011,016 (GRCm39)	missense	probably benign	0.05
R4912:Mapre2	UTSW	18	23,965,990 (GRCm39)	missense	probably damaging	1.00
R5133:Mapre2	UTSW	18	23,991,190 (GRCm39)	missense	possibly damaging	0.73
R5637:Mapre2	UTSW	18	23,886,919 (GRCm39)	intron	probably benign
R6620:Mapre2	UTSW	18	23,991,002 (GRCm39)	missense	probably benign	0.38
R7250:Mapre2	UTSW	18	23,991,119 (GRCm39)	missense	possibly damaging	0.64
R7736:Mapre2	UTSW	18	24,011,012 (GRCm39)	missense	probably benign
R8157:Mapre2	UTSW	18	23,991,218 (GRCm39)	missense	probably benign	0.00
R8698:Mapre2	UTSW	18	24,011,090 (GRCm39)	missense	probably benign	0.02
R8742:Mapre2	UTSW	18	24,016,688 (GRCm39)	missense	probably benign	0.00
R8826:Mapre2	UTSW	18	23,886,888 (GRCm39)	intron	probably benign
R9150:Mapre2	UTSW	18	23,991,208 (GRCm39)	missense	probably benign	0.25
R9234:Mapre2	UTSW	18	23,937,236 (GRCm39)	missense	probably benign	0.01
R9490:Mapre2	UTSW	18	23,986,764 (GRCm39)	missense	possibly damaging	0.88
R9558:Mapre2	UTSW	18	23,991,195 (GRCm39)	missense	possibly damaging	0.92
R9574:Mapre2	UTSW	18	23,965,993 (GRCm39)	missense	probably benign	0.16
R9598:Mapre2	UTSW	18	24,016,707 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTGGGAAGCATTTGTGC -3'
(R):5'- GCTAACGCATCTTGGCAGAG -3'

Sequencing Primer
(F):5'- TGAGGCTGGCGTACTCC -3'
(R):5'- CGCATCTTGGCAGAGGAAGTG -3'

Posted On

2022-08-09