Mutagenetix > Incidental Mutation

Incidental Mutation 'R2145:Acap2'

233777

Institutional Source

Beutler Lab

Gene Symbol

Acap2

Ensembl Gene

ENSMUSG00000049076

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 2

Synonyms

Centb2, 9530039J15Rik

MMRRC Submission

040148-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2145 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31105524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 637 (D637E)

Ref Sequence

ENSEMBL: ENSMUSP00000154852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058033] [ENSMUST00000229010] [ENSMUST00000230614] [ENSMUST00000230698] [ENSMUST00000231125]

AlphaFold

Q6ZQK5

Predicted Effect

probably benign
Transcript: ENSMUST00000058033
AA Change: D612E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: D612E

Domain	Start	End	E-Value	Type
Pfam:BAR_3	5	238	9.1e-96	PFAM
PH	267	363	1.73e-17	SMART
ArfGap	399	520	2.23e-63	SMART
ANK	632	661	6.71e-2	SMART
ANK	665	694	3.04e0	SMART
ANK	698	727	6.64e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229010
AA Change: D665E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230614
AA Change: D630E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably benign
Transcript: ENSMUST00000231125
AA Change: D637E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (101/104)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	C	9: 50,764,874 (GRCm38)	Y32C	probably damaging	Het
Abca15	A	G	7: 120,354,478 (GRCm38)	N535S	probably benign	Het
Abcc6	A	T	7: 45,998,741 (GRCm38)	L717Q	probably benign	Het
Abraxas2	C	A	7: 132,883,061 (GRCm38)	Q278K	probably benign	Het
AI661453	A	G	17: 47,466,098 (GRCm38)		probably benign	Het
Aoah	A	T	13: 20,840,096 (GRCm38)	E74V	probably damaging	Het
Appl1	A	G	14: 26,949,619 (GRCm38)	L292S	possibly damaging	Het
Astl	T	A	2: 127,347,189 (GRCm38)	V166E	probably damaging	Het
Atp5s	A	G	12: 69,741,054 (GRCm38)	Q88R	probably damaging	Het
Bbs1	T	G	19: 4,903,707 (GRCm38)	K143Q	possibly damaging	Het
Bbx	T	C	16: 50,274,544 (GRCm38)		probably benign	Het
Birc6	A	T	17: 74,660,413 (GRCm38)	Q4103L	possibly damaging	Het
C1qtnf2	T	G	11: 43,490,984 (GRCm38)	F178V	probably damaging	Het
Camta2	A	G	11: 70,671,575 (GRCm38)	F999L	probably benign	Het
Clcn7	A	G	17: 25,144,451 (GRCm38)	I34V	probably benign	Het
Cntn5	G	T	9: 9,748,415 (GRCm38)	P487Q	probably damaging	Het
Ctu2	T	A	8: 122,479,152 (GRCm38)	I213K	probably benign	Het
Des	C	A	1: 75,363,464 (GRCm38)		probably benign	Het
Dgcr8	A	T	16: 18,280,230 (GRCm38)	D432E	probably benign	Het
Dlgap5	G	A	14: 47,395,923 (GRCm38)	R549*	probably null	Het
Dmxl2	T	C	9: 54,415,910 (GRCm38)	T1397A	probably damaging	Het
Dnmt1	T	A	9: 20,937,155 (GRCm38)		probably benign	Het
Doxl2	A	T	6: 48,976,695 (GRCm38)	D518V	probably damaging	Het
Dstyk	T	A	1: 132,463,375 (GRCm38)	M838K	probably damaging	Het
Dtwd1	C	A	2: 126,159,984 (GRCm38)	T208N	probably damaging	Het
Dvl1	G	A	4: 155,847,816 (GRCm38)	V28I	possibly damaging	Het
Dync1i2	T	A	2: 71,214,563 (GRCm38)		probably benign	Het
Fer1l6	T	A	15: 58,627,534 (GRCm38)	M1251K	probably benign	Het
Fmod	T	C	1: 134,040,518 (GRCm38)	Y99H	probably benign	Het
Fn1	A	T	1: 71,606,004 (GRCm38)	V1552D	probably damaging	Het
Fnip2	A	T	3: 79,500,432 (GRCm38)	S281T	probably damaging	Het
Glb1	A	G	9: 114,464,165 (GRCm38)	H536R	probably benign	Het
Glis2	T	A	16: 4,613,642 (GRCm38)	S344R	possibly damaging	Het
Gm1966	T	A	7: 106,603,008 (GRCm38)	H343L	possibly damaging	Het
Gm4847	A	T	1: 166,634,903 (GRCm38)	S339R	probably benign	Het
Gpr155	A	G	2: 73,356,658 (GRCm38)	S44P	probably benign	Het
Gprin1	G	A	13: 54,738,632 (GRCm38)	P610S	probably damaging	Het
H2-Ob	A	T	17: 34,242,580 (GRCm38)	M98L	probably benign	Het
Hist1h3e	T	C	13: 23,562,356 (GRCm38)	T4A	probably benign	Het
Hmcn2	T	C	2: 31,333,931 (GRCm38)		probably benign	Het
Ikbke	C	A	1: 131,273,474 (GRCm38)	V176L	probably damaging	Het
Il13	T	C	11: 53,632,524 (GRCm38)	T85A	possibly damaging	Het
Inpp5k	A	T	11: 75,647,191 (GRCm38)		probably null	Het
Irgm2	T	C	11: 58,220,529 (GRCm38)	S361P	possibly damaging	Het
Itga11	C	T	9: 62,732,204 (GRCm38)		probably benign	Het
Kalrn	G	T	16: 34,009,262 (GRCm38)		probably benign	Het
Kcng1	C	A	2: 168,269,032 (GRCm38)	G71C	probably damaging	Het
Kcnq5	T	A	1: 21,505,349 (GRCm38)	D291V	probably damaging	Het
Klhl7	A	T	5: 24,100,863 (GRCm38)	M37L	probably benign	Het
Letm1	A	AG	5: 33,769,515 (GRCm38)		probably null	Het
Lhx6	C	T	2: 36,087,466 (GRCm38)	V325I	probably benign	Het
Lipc	A	G	9: 70,934,535 (GRCm38)	I9T	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261 (GRCm38)		probably null	Het
Mast1	C	A	8: 84,921,478 (GRCm38)	G458V	probably damaging	Het
Mga	T	C	2: 119,964,157 (GRCm38)	V2565A	possibly damaging	Het
Mkl2	T	C	16: 13,412,586 (GRCm38)	I1045T	probably damaging	Het
Mpzl2	C	G	9: 45,044,173 (GRCm38)	D127E	probably benign	Het
Myh3	T	A	11: 67,091,056 (GRCm38)	C793S	probably benign	Het
Nomo1	T	C	7: 46,066,504 (GRCm38)	L765P	probably damaging	Het
Nup210	A	G	6: 91,028,876 (GRCm38)	I1335T	possibly damaging	Het
Olfr549	T	C	7: 102,555,060 (GRCm38)		probably null	Het
Oxr1	T	A	15: 41,819,944 (GRCm38)	S254R	probably damaging	Het
Pan3	A	G	5: 147,530,098 (GRCm38)	I592V	possibly damaging	Het
Pask	C	T	1: 93,321,297 (GRCm38)	A794T	probably benign	Het
Pex2	T	C	3: 5,561,590 (GRCm38)	E53G	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723 (GRCm38)	T438A	probably benign	Het
Phactr4	T	C	4: 132,370,784 (GRCm38)	E391G	probably damaging	Het
Pira2	A	T	7: 3,844,345 (GRCm38)	L115Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,512,877 (GRCm38)		probably null	Het
Pnlip	A	G	19: 58,676,444 (GRCm38)	S235G	probably benign	Het
Prkd1	A	G	12: 50,489,911 (GRCm38)	V130A	possibly damaging	Het
Ptpn13	A	G	5: 103,556,133 (GRCm38)	T1344A	probably benign	Het
Ptprc	T	C	1: 138,073,681 (GRCm38)	Y780C	probably damaging	Het
Pxn	T	A	5: 115,552,756 (GRCm38)		probably benign	Het
Rap1gap2	G	A	11: 74,425,976 (GRCm38)	T245M	probably damaging	Het
Rc3h1	G	T	1: 160,930,257 (GRCm38)	K48N	probably damaging	Het
Rfwd3	T	C	8: 111,282,613 (GRCm38)	I444V	probably benign	Het
Rictor	C	T	15: 6,765,107 (GRCm38)	R293C	probably damaging	Het
Rif1	T	A	2: 52,111,400 (GRCm38)	I1622N	possibly damaging	Het
Rnf213	T	C	11: 119,415,193 (GRCm38)	V609A	probably benign	Het
Scgb1b2	G	T	7: 31,291,763 (GRCm38)		probably benign	Het
Serac1	A	T	17: 6,050,785 (GRCm38)	I448N	probably damaging	Het
Sh3kbp1	C	A	X: 159,824,496 (GRCm38)	T200K	probably benign	Het
Sned1	T	A	1: 93,271,684 (GRCm38)	F495L	probably damaging	Het
Socs7	T	C	11: 97,373,124 (GRCm38)	F281L	probably benign	Het
Spta1	C	T	1: 174,212,614 (GRCm38)	L1214F	probably benign	Het
Ssu72	A	G	4: 155,705,443 (GRCm38)	E21G	probably damaging	Het
Syngr4	A	G	7: 45,887,040 (GRCm38)	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791 (GRCm38)	M254I	possibly damaging	Het
Tmem130	C	A	5: 144,743,785 (GRCm38)	V270L	probably benign	Het
Trim66	A	T	7: 109,475,113 (GRCm38)	I647N	probably damaging	Het
Tspyl2	A	T	X: 152,338,894 (GRCm38)	D572E	probably benign	Het
Unc45b	G	A	11: 82,917,754 (GRCm38)	R222H	probably benign	Het
Uxs1	T	C	1: 43,827,623 (GRCm38)	Y29C	probably damaging	Het
Virma	T	A	4: 11,548,726 (GRCm38)		probably benign	Het
Vmn1r202	C	T	13: 22,501,783 (GRCm38)	G155S	possibly damaging	Het
Vmn2r24	T	A	6: 123,779,013 (GRCm38)	F15I	probably benign	Het
Wdr64	A	G	1: 175,767,095 (GRCm38)	T471A	probably benign	Het
Zfa-ps	T	A	10: 52,543,277 (GRCm38)		noncoding transcript	Het
Zfp260	A	G	7: 30,105,340 (GRCm38)	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951 (GRCm38)	S525P	possibly damaging	Het
Zfp821	A	G	8: 109,724,347 (GRCm38)	D324G	probably damaging	Het
Zfp934	T	C	13: 62,517,834 (GRCm38)	D331G	probably damaging	Het
Zscan29	T	C	2: 121,170,106 (GRCm38)	R7G	probably damaging	Het

Other mutations in Acap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Acap2	APN	16	31,139,475 (GRCm38)	missense	probably damaging	1.00
IGL01330:Acap2	APN	16	31,154,677 (GRCm38)	missense	probably damaging	1.00
IGL01420:Acap2	APN	16	31,101,819 (GRCm38)	splice site	probably benign
IGL02064:Acap2	APN	16	31,127,328 (GRCm38)	missense	probably damaging	1.00
IGL02173:Acap2	APN	16	31,108,147 (GRCm38)	missense	possibly damaging	0.68
IGL02453:Acap2	APN	16	31,131,257 (GRCm38)	splice site	probably null
IGL02883:Acap2	APN	16	31,096,345 (GRCm38)	unclassified	probably benign
IGL03203:Acap2	APN	16	31,096,345 (GRCm38)	unclassified	probably benign
IGL03342:Acap2	APN	16	31,105,492 (GRCm38)	missense	probably damaging	1.00
R1251:Acap2	UTSW	16	31,108,171 (GRCm38)	missense	probably damaging	1.00
R1377:Acap2	UTSW	16	31,116,051 (GRCm38)	missense	probably damaging	1.00
R1432:Acap2	UTSW	16	31,111,083 (GRCm38)	missense	probably damaging	1.00
R1546:Acap2	UTSW	16	31,104,936 (GRCm38)	nonsense	probably null
R1594:Acap2	UTSW	16	31,127,387 (GRCm38)	missense	probably benign	0.01
R1829:Acap2	UTSW	16	31,110,934 (GRCm38)	missense	probably damaging	1.00
R1853:Acap2	UTSW	16	31,117,304 (GRCm38)	missense	probably damaging	1.00
R1970:Acap2	UTSW	16	31,133,527 (GRCm38)	critical splice donor site	probably null
R2023:Acap2	UTSW	16	31,119,415 (GRCm38)	missense	probably damaging	0.99
R2086:Acap2	UTSW	16	31,110,945 (GRCm38)	missense	probably damaging	1.00
R2177:Acap2	UTSW	16	31,133,528 (GRCm38)	critical splice donor site	probably null
R2214:Acap2	UTSW	16	31,108,128 (GRCm38)	missense	probably benign	0.19
R2392:Acap2	UTSW	16	31,139,640 (GRCm38)	missense	probably damaging	0.99
R2438:Acap2	UTSW	16	31,117,315 (GRCm38)	missense	probably damaging	1.00
R2913:Acap2	UTSW	16	31,116,069 (GRCm38)	missense	probably damaging	0.99
R4207:Acap2	UTSW	16	31,119,427 (GRCm38)	missense	probably damaging	0.99
R4274:Acap2	UTSW	16	31,108,114 (GRCm38)	missense	probably benign	0.01
R4814:Acap2	UTSW	16	31,108,126 (GRCm38)	missense	probably benign
R4860:Acap2	UTSW	16	31,103,499 (GRCm38)	missense	possibly damaging	0.92
R4860:Acap2	UTSW	16	31,103,499 (GRCm38)	missense	possibly damaging	0.92
R5310:Acap2	UTSW	16	31,133,609 (GRCm38)	missense	probably benign	0.00
R5345:Acap2	UTSW	16	31,108,126 (GRCm38)	missense	probably benign
R5388:Acap2	UTSW	16	31,109,725 (GRCm38)	missense	probably damaging	1.00
R5551:Acap2	UTSW	16	31,104,908 (GRCm38)	missense	probably damaging	1.00
R5578:Acap2	UTSW	16	31,108,114 (GRCm38)	missense	probably benign	0.00
R6341:Acap2	UTSW	16	31,105,546 (GRCm38)	missense	possibly damaging	0.86
R6659:Acap2	UTSW	16	31,131,315 (GRCm38)	missense	probably damaging	0.99
R6977:Acap2	UTSW	16	31,117,261 (GRCm38)	missense	probably damaging	1.00
R7262:Acap2	UTSW	16	31,127,319 (GRCm38)	critical splice donor site	probably null
R7304:Acap2	UTSW	16	31,108,116 (GRCm38)	missense	probably benign	0.05
R7310:Acap2	UTSW	16	31,108,154 (GRCm38)	nonsense	probably null
R7318:Acap2	UTSW	16	31,127,337 (GRCm38)	missense	probably damaging	1.00
R7514:Acap2	UTSW	16	31,154,567 (GRCm38)	splice site	probably null
R7875:Acap2	UTSW	16	31,139,641 (GRCm38)	missense	probably damaging	0.99
R8256:Acap2	UTSW	16	31,139,469 (GRCm38)	critical splice donor site	probably null
R9026:Acap2	UTSW	16	31,107,088 (GRCm38)	missense	probably damaging	0.99
R9177:Acap2	UTSW	16	31,136,574 (GRCm38)	missense	probably damaging	1.00
R9252:Acap2	UTSW	16	31,101,823 (GRCm38)	critical splice donor site	probably null
R9268:Acap2	UTSW	16	31,136,574 (GRCm38)	missense	probably damaging	1.00
R9329:Acap2	UTSW	16	31,127,420 (GRCm38)	missense	probably damaging	1.00
R9467:Acap2	UTSW	16	31,111,083 (GRCm38)	missense	possibly damaging	0.54
R9528:Acap2	UTSW	16	31,111,090 (GRCm38)	missense	possibly damaging	0.75
R9762:Acap2	UTSW	16	31,110,945 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAATGCATTAATTCACGCC -3'
(R):5'- GTCACTGCGATTCACCCAAC -3'

Sequencing Primer
(F):5'- TGCATTAATTCACGCCCTAATACAG -3'
(R):5'- ATCCTGTGGTATGAGCACAC -3'

Posted On

2014-10-01