Mutagenetix > Incidental Mutation

Incidental Mutation 'R4912:Mapre2'

379664

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

042514-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R4912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23885390-24026918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23965990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 25 (N25S)

Ref Sequence

ENSEMBL: ENSMUSP00000118807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025127] [ENSMUST00000115830] [ENSMUST00000118826] [ENSMUST00000155708] [ENSMUST00000165387] [ENSMUST00000170802]

AlphaFold

Q8R001

Predicted Effect

probably damaging
Transcript: ENSMUST00000025127
AA Change: N67S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025127
Gene: ENSMUSG00000024277
AA Change: N67S

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

possibly damaging
Transcript: ENSMUST00000115830
AA Change: N58S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111496
Gene: ENSMUSG00000024277
AA Change: N58S

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

possibly damaging
Transcript: ENSMUST00000118826
AA Change: N25S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114113
Gene: ENSMUSG00000024277
AA Change: N25S

Domain	Start	End	E-Value	Type
Pfam:CH	17	116	5.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141853

Predicted Effect

probably damaging
Transcript: ENSMUST00000155708
AA Change: N25S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118807
Gene: ENSMUSG00000024277
AA Change: N25S

Domain	Start	End	E-Value	Type
Pfam:CH	17	116	1.9e-12	PFAM
low complexity region	157	193	N/A	INTRINSIC
Pfam:EB1	217	256	5.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165387

Predicted Effect

probably damaging
Transcript: ENSMUST00000170802
AA Change: N25S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128040
Gene: ENSMUSG00000024277
AA Change: N25S

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,213,505 (GRCm39)	D52G	possibly damaging	Het
Acaa1a	C	A	9: 119,171,827 (GRCm39)	R102S	probably damaging	Het
Arhgef12	G	A	9: 42,904,361 (GRCm39)	R706*	probably null	Het
Best3	A	G	10: 116,844,886 (GRCm39)	Y347C	probably damaging	Het
Birc6	T	A	17: 74,872,900 (GRCm39)	D386E	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,144 (GRCm39)	T66S	probably benign	Het
Chd9	A	T	8: 91,760,858 (GRCm39)	D2201V	possibly damaging	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Dffb	T	A	4: 154,049,864 (GRCm39)		probably benign	Het
Diaph3	A	C	14: 87,244,635 (GRCm39)	C217W	probably damaging	Het
Eml2	T	A	7: 18,927,924 (GRCm39)		probably null	Het
Ercc5	T	C	1: 44,196,217 (GRCm39)	I70T	probably damaging	Het
Fryl	AGTGTGT	AGTGT	5: 73,226,125 (GRCm39)		probably null	Het
Fsd1	C	T	17: 56,298,241 (GRCm39)	P189S	possibly damaging	Het
Gm42669	A	G	5: 107,656,683 (GRCm39)	K982R	probably damaging	Het
Gm5414	A	G	15: 101,533,445 (GRCm39)	I373T	possibly damaging	Het
Gm7356	A	G	17: 14,221,498 (GRCm39)	L177P	possibly damaging	Het
Grip1	G	A	10: 119,767,153 (GRCm39)	D93N	probably damaging	Het
Hbq1b	T	A	11: 32,237,014 (GRCm39)	M1K	probably null	Het
Hps3	C	A	3: 20,068,337 (GRCm39)	L572F	probably damaging	Het
Ighj2	T	A	12: 113,393,100 (GRCm39)		probably benign	Het
Kcna3	T	C	3: 106,945,207 (GRCm39)	M490T	probably benign	Het
Krt76	T	A	15: 101,796,597 (GRCm39)	K404*	probably null	Het
Lgr4	A	T	2: 109,836,847 (GRCm39)		probably null	Het
Ltbp4	G	T	7: 27,005,541 (GRCm39)	C1533*	probably null	Het
Mark3	T	A	12: 111,559,087 (GRCm39)	I43K	probably benign	Het
Mon1b	T	A	8: 114,368,585 (GRCm39)	Y495*	probably null	Het
Mrfap1	A	G	5: 36,954,089 (GRCm39)		probably benign	Het
Mxra8	A	G	4: 155,925,361 (GRCm39)		probably null	Het
Myoz1	A	T	14: 20,699,606 (GRCm39)	L244Q	probably damaging	Het
Ndfip2	C	T	14: 105,496,120 (GRCm39)	R5W	probably benign	Het
Nek11	T	C	9: 105,164,857 (GRCm39)	D423G	probably benign	Het
Nin	A	T	12: 70,090,837 (GRCm39)	D859E	probably damaging	Het
Nup210	G	A	6: 90,994,511 (GRCm39)	A1729V	probably benign	Het
Olfm3	A	G	3: 114,895,589 (GRCm39)	E157G	probably damaging	Het
Or1e1f	A	T	11: 73,856,166 (GRCm39)	H244L	probably damaging	Het
Prickle1	A	G	15: 93,398,429 (GRCm39)	S800P	probably benign	Het
Reln	A	G	5: 22,130,191 (GRCm39)	S2707P	probably benign	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rexo4	G	A	2: 26,852,404 (GRCm39)	T200M	possibly damaging	Het
Saxo2	T	A	7: 82,283,743 (GRCm39)	I372L	probably benign	Het
Scgb2b2	T	A	7: 31,003,056 (GRCm39)	D50E	probably benign	Het
Sipa1l1	T	C	12: 82,443,452 (GRCm39)	L914P	possibly damaging	Het
Slf1	T	A	13: 77,199,413 (GRCm39)	D656V	probably damaging	Het
Sorbs1	T	C	19: 40,300,171 (GRCm39)	D1192G	probably damaging	Het
Tdrd6	A	C	17: 43,935,218 (GRCm39)	D1943E	probably benign	Het
Tmem163	G	A	1: 127,419,362 (GRCm39)	T281M	probably damaging	Het
Tmod3	A	G	9: 75,439,730 (GRCm39)	V35A	probably damaging	Het
Ttc39c	A	T	18: 12,867,951 (GRCm39)	Q448L	probably benign	Het
Ulk1	A	T	5: 110,935,455 (GRCm39)	S937T	probably damaging	Het
Unc13c	T	A	9: 73,481,304 (GRCm39)	D1711V	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Utp20	G	T	10: 88,607,822 (GRCm39)	Q1596K	probably benign	Het
Vmn1r28	A	T	6: 58,242,525 (GRCm39)	I123F	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,596 (GRCm39)	V138E	probably damaging	Het
Vmn2r112	A	G	17: 22,822,363 (GRCm39)	D347G	probably damaging	Het
Vmn2r3	T	G	3: 64,166,618 (GRCm39)	T838P	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wdr17	T	C	8: 55,082,896 (GRCm39)	D1268G	probably damaging	Het
Zfp108	T	A	7: 23,960,739 (GRCm39)	H443Q	probably damaging	Het
Zfp608	A	G	18: 55,079,663 (GRCm39)	V374A	probably damaging	Het
Zfp831	G	T	2: 174,486,417 (GRCm39)	G364V	probably damaging	Het
Zfp94	A	G	7: 24,003,166 (GRCm39)	V86A	probably benign	Het
Zkscan16	A	C	4: 58,946,506 (GRCm39)	N127T	possibly 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
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
R9563:Mapre2	UTSW	18	24,023,981 (GRCm39)	missense	unknown
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'- ACCAACTATGTCCTCCTTGATTAAG -3'
(R):5'- GTGTGCTCTCAGATGTTCTCAG -3'

Sequencing Primer
(F):5'- GTCCTCCTTGATTAAGTGTCTCTGG -3'
(R):5'- GCTCTCAGATGTTCTCAGACATTTC -3'

Posted On

2016-04-15