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: 0.135) question?

Stock #

R1377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31116051 bp (GRCm38)

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: 74,672,252 (GRCm38)	H41Y	possibly damaging	Het
Atp7b	G	A	8: 22,011,785 (GRCm38)	A854V	probably benign	Het
Ccng1	G	A	11: 40,752,114 (GRCm38)	P169S	probably benign	Het
Dnah8	A	T	17: 30,840,622 (GRCm38)	K4399*	probably null	Het
Dscam	A	G	16: 96,772,494 (GRCm38)	V756A	probably damaging	Het
Exoc3l4	A	T	12: 111,428,670 (GRCm38)	E574V	probably damaging	Het
Fbxo46	T	A	7: 19,136,425 (GRCm38)	V323E	probably damaging	Het
Gria1	C	A	11: 57,201,176 (GRCm38)	N163K	probably damaging	Het
Has2	T	C	15: 56,681,806 (GRCm38)	I133M	probably damaging	Het
Itgal	T	A	7: 127,321,917 (GRCm38)	L750Q	probably damaging	Het
Ptprk	G	A	10: 28,586,026 (GRCm38)	R1195Q	probably benign	Het
Rbm15	T	C	3: 107,330,758 (GRCm38)	T775A	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666 (GRCm38)		probably benign	Het
Sipa1l2	T	C	8: 125,491,977 (GRCm38)	E207G	probably damaging	Het
Slc38a6	T	A	12: 73,350,571 (GRCm38)	I329N	probably damaging	Het
Stoml3	G	A	3: 53,507,641 (GRCm38)	A285T	probably benign	Het
Trhr2	C	T	8: 122,360,588 (GRCm38)	V38M	probably damaging	Het
Trp53bp1	A	G	2: 121,270,642 (GRCm38)	L25P	probably damaging	Het
Wdr33	T	A	18: 31,888,641 (GRCm38)	M748K	unknown	Het
Zfp454	T	C	11: 50,873,780 (GRCm38)	Y164C	probably damaging	Het
Zfp804a	T	C	2: 82,258,497 (GRCm38)	V890A	probably benign	Het
Zxdc	T	C	6: 90,378,903 (GRCm38)	S465P	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
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
R2145:Acap2	UTSW	16	31,105,524 (GRCm38)	missense	probably benign
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'- GGCCCAGAGACGATTCAGGTAATAGAAA -3'
(R):5'- GGATGAACAATGAAACCCTTCTTCGAAC -3'

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

Posted On

2014-03-17