Mutagenetix > Incidental Mutation

Incidental Mutation 'R1377:Acap2'

162923

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

039441-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R1377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30911230-31020063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30934869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 363 (V363A)

Ref Sequence

ENSEMBL: ENSMUSP00000154852 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058033
AA Change: V338A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: V338A

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

possibly damaging
Transcript: ENSMUST00000229010
AA Change: V356A

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230614
AA Change: V356A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably damaging
Transcript: ENSMUST00000231125
AA Change: V363A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	G	A	15: 74,544,101 (GRCm39)	H41Y	possibly damaging	Het
Atp7b	G	A	8: 22,501,801 (GRCm39)	A854V	probably benign	Het
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Dnah8	A	T	17: 31,059,596 (GRCm39)	K4399*	probably null	Het
Dscam	A	G	16: 96,573,694 (GRCm39)	V756A	probably damaging	Het
Exoc3l4	A	T	12: 111,395,104 (GRCm39)	E574V	probably damaging	Het
Fbxo46	T	A	7: 18,870,350 (GRCm39)	V323E	probably damaging	Het
Gria1	C	A	11: 57,092,002 (GRCm39)	N163K	probably damaging	Het
Has2	T	C	15: 56,545,202 (GRCm39)	I133M	probably damaging	Het
Itgal	T	A	7: 126,921,089 (GRCm39)	L750Q	probably damaging	Het
Ptprk	G	A	10: 28,462,022 (GRCm39)	R1195Q	probably benign	Het
Rbm15	T	C	3: 107,238,074 (GRCm39)	T775A	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Sipa1l2	T	C	8: 126,218,716 (GRCm39)	E207G	probably damaging	Het
Slc38a6	T	A	12: 73,397,345 (GRCm39)	I329N	probably damaging	Het
Stoml3	G	A	3: 53,415,062 (GRCm39)	A285T	probably benign	Het
Trhr2	C	T	8: 123,087,327 (GRCm39)	V38M	probably damaging	Het
Trp53bp1	A	G	2: 121,101,123 (GRCm39)	L25P	probably damaging	Het
Wdr33	T	A	18: 32,021,694 (GRCm39)	M748K	unknown	Het
Zfp454	T	C	11: 50,764,607 (GRCm39)	Y164C	probably damaging	Het
Zfp804a	T	C	2: 82,088,841 (GRCm39)	V890A	probably benign	Het
Zxdc	T	C	6: 90,355,885 (GRCm39)	S465P	probably damaging	Het

Other mutations in Acap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Acap2	APN	16	30,958,293 (GRCm39)	missense	probably damaging	1.00
IGL01330:Acap2	APN	16	30,973,495 (GRCm39)	missense	probably damaging	1.00
IGL01420:Acap2	APN	16	30,920,637 (GRCm39)	splice site	probably benign
IGL02064:Acap2	APN	16	30,946,146 (GRCm39)	missense	probably damaging	1.00
IGL02173:Acap2	APN	16	30,926,965 (GRCm39)	missense	possibly damaging	0.68
IGL02453:Acap2	APN	16	30,950,075 (GRCm39)	splice site	probably null
IGL02883:Acap2	APN	16	30,915,163 (GRCm39)	unclassified	probably benign
IGL03203:Acap2	APN	16	30,915,163 (GRCm39)	unclassified	probably benign
IGL03342:Acap2	APN	16	30,924,310 (GRCm39)	missense	probably damaging	1.00
R1251:Acap2	UTSW	16	30,926,989 (GRCm39)	missense	probably damaging	1.00
R1432:Acap2	UTSW	16	30,929,901 (GRCm39)	missense	probably damaging	1.00
R1546:Acap2	UTSW	16	30,923,754 (GRCm39)	nonsense	probably null
R1594:Acap2	UTSW	16	30,946,205 (GRCm39)	missense	probably benign	0.01
R1829:Acap2	UTSW	16	30,929,752 (GRCm39)	missense	probably damaging	1.00
R1853:Acap2	UTSW	16	30,936,122 (GRCm39)	missense	probably damaging	1.00
R1970:Acap2	UTSW	16	30,952,345 (GRCm39)	critical splice donor site	probably null
R2023:Acap2	UTSW	16	30,938,233 (GRCm39)	missense	probably damaging	0.99
R2086:Acap2	UTSW	16	30,929,763 (GRCm39)	missense	probably damaging	1.00
R2145:Acap2	UTSW	16	30,924,342 (GRCm39)	missense	probably benign
R2177:Acap2	UTSW	16	30,952,346 (GRCm39)	critical splice donor site	probably null
R2214:Acap2	UTSW	16	30,926,946 (GRCm39)	missense	probably benign	0.19
R2392:Acap2	UTSW	16	30,958,458 (GRCm39)	missense	probably damaging	0.99
R2438:Acap2	UTSW	16	30,936,133 (GRCm39)	missense	probably damaging	1.00
R2913:Acap2	UTSW	16	30,934,887 (GRCm39)	missense	probably damaging	0.99
R4207:Acap2	UTSW	16	30,938,245 (GRCm39)	missense	probably damaging	0.99
R4274:Acap2	UTSW	16	30,926,932 (GRCm39)	missense	probably benign	0.01
R4814:Acap2	UTSW	16	30,926,944 (GRCm39)	missense	probably benign
R4860:Acap2	UTSW	16	30,922,317 (GRCm39)	missense	possibly damaging	0.92
R4860:Acap2	UTSW	16	30,922,317 (GRCm39)	missense	possibly damaging	0.92
R5310:Acap2	UTSW	16	30,952,427 (GRCm39)	missense	probably benign	0.00
R5345:Acap2	UTSW	16	30,926,944 (GRCm39)	missense	probably benign
R5388:Acap2	UTSW	16	30,928,543 (GRCm39)	missense	probably damaging	1.00
R5551:Acap2	UTSW	16	30,923,726 (GRCm39)	missense	probably damaging	1.00
R5578:Acap2	UTSW	16	30,926,932 (GRCm39)	missense	probably benign	0.00
R6341:Acap2	UTSW	16	30,924,364 (GRCm39)	missense	possibly damaging	0.86
R6659:Acap2	UTSW	16	30,950,133 (GRCm39)	missense	probably damaging	0.99
R6977:Acap2	UTSW	16	30,936,079 (GRCm39)	missense	probably damaging	1.00
R7262:Acap2	UTSW	16	30,946,137 (GRCm39)	critical splice donor site	probably null
R7304:Acap2	UTSW	16	30,926,934 (GRCm39)	missense	probably benign	0.05
R7310:Acap2	UTSW	16	30,926,972 (GRCm39)	nonsense	probably null
R7318:Acap2	UTSW	16	30,946,155 (GRCm39)	missense	probably damaging	1.00
R7514:Acap2	UTSW	16	30,973,385 (GRCm39)	splice site	probably null
R7875:Acap2	UTSW	16	30,958,459 (GRCm39)	missense	probably damaging	0.99
R8256:Acap2	UTSW	16	30,958,287 (GRCm39)	critical splice donor site	probably null
R9026:Acap2	UTSW	16	30,925,906 (GRCm39)	missense	probably damaging	0.99
R9177:Acap2	UTSW	16	30,955,392 (GRCm39)	missense	probably damaging	1.00
R9252:Acap2	UTSW	16	30,920,641 (GRCm39)	critical splice donor site	probably null
R9268:Acap2	UTSW	16	30,955,392 (GRCm39)	missense	probably damaging	1.00
R9329:Acap2	UTSW	16	30,946,238 (GRCm39)	missense	probably damaging	1.00
R9467:Acap2	UTSW	16	30,929,901 (GRCm39)	missense	possibly damaging	0.54
R9528:Acap2	UTSW	16	30,929,908 (GRCm39)	missense	possibly damaging	0.75
R9762:Acap2	UTSW	16	30,929,763 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCCAGAGACGATTCAGGTAATAGAAA -3'
(R):5'- GGATGAACAATGAAACCCTTCTTCGAAC -3'

Sequencing Primer
(F):5'- gtaagtgagccccaagcc -3'
(R):5'- tcaagggcaactcacacac -3'

Posted On

2014-03-17