Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00533:Acap2'

3981

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acap2

Ensembl Gene

ENSMUSG00000049076

Gene Name

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

Synonyms

Centb2, 9530039J15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL00533

Quality Score

Status

Chromosome

Chromosomal Location

30911230-31020063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30958293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 175 (L175Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154852 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058033
AA Change: L157Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: L157Q

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 damaging
Transcript: ENSMUST00000229010
AA Change: L175Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230614
AA Change: L175Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably damaging
Transcript: ENSMUST00000231125
AA Change: L175Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,316,110 (GRCm39)		probably null	Het
Arhgef38	C	T	3: 132,822,220 (GRCm39)	W181*	probably null	Het
Gm5581	A	T	6: 131,144,604 (GRCm39)		noncoding transcript	Het
Hyls1	G	T	9: 35,473,220 (GRCm39)	Y65*	probably null	Het
Map1b	A	G	13: 99,569,112 (GRCm39)	I1203T	unknown	Het
Met	C	T	6: 17,534,936 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,338,552 (GRCm39)	T1065A	probably damaging	Het
Proser3	A	G	7: 30,240,096 (GRCm39)	V336A	possibly damaging	Het
Prpf40a	G	A	2: 53,035,355 (GRCm39)	R729C	probably damaging	Het
Ptprk	A	G	10: 28,461,971 (GRCm39)	E1152G	probably damaging	Het
Scn11a	A	C	9: 119,603,447 (GRCm39)	D1073E	probably damaging	Het
Spsb3	C	T	17: 25,109,539 (GRCm39)		probably benign	Het

Other mutations in Acap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1377:Acap2	UTSW	16	30,934,869 (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

Posted On

2012-04-20