Mutagenetix > Incidental Mutation

Incidental Mutation 'R1432:Acap2'

162344

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

039487-MU

Accession Numbers

Essential gene?

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

Stock #

R1432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30911230-31020063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30929901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 386 (S386T)

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: S361T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: S361T

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: S379T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230614
AA Change: S379T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably damaging
Transcript: ENSMUST00000231125
AA Change: S386T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.1431

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,217,361 (GRCm39)		probably null	Het
9130401M01Rik	A	T	15: 57,892,256 (GRCm39)	L117Q	probably damaging	Het
Abcb1b	A	G	5: 8,887,771 (GRCm39)	K886E	possibly damaging	Het
Acaa2	A	T	18: 74,920,198 (GRCm39)	I9F	probably damaging	Het
Acsm2	A	T	7: 119,172,798 (GRCm39)	I138F	possibly damaging	Het
Agl	T	C	3: 116,540,342 (GRCm39)	Y1424C	probably damaging	Het
Aoc1l1	T	A	6: 48,952,588 (GRCm39)	F171Y	probably damaging	Het
Apc2	T	C	10: 80,148,183 (GRCm39)	V1079A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Armc8	C	T	9: 99,405,185 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,588,476 (GRCm39)	Y953C	probably damaging	Het
Cdk13	G	A	13: 17,893,001 (GRCm39)	A720V	probably damaging	Het
Chka	T	C	19: 3,924,809 (GRCm39)		probably benign	Het
Clcc1	T	C	3: 108,575,418 (GRCm39)	I165T	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Dip2c	C	A	13: 9,603,340 (GRCm39)	P297Q	probably damaging	Het
Dnah17	A	T	11: 117,914,153 (GRCm39)	W4429R	probably damaging	Het
Dram2	T	C	3: 106,478,082 (GRCm39)	V138A	possibly damaging	Het
Dus4l	T	C	12: 31,698,770 (GRCm39)	N78S	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ebf1	T	C	11: 44,895,533 (GRCm39)		probably benign	Het
Epm2a	T	A	10: 11,266,587 (GRCm39)	Y111N	probably damaging	Het
Gm773	T	C	X: 55,247,377 (GRCm39)	T52A	probably benign	Het
Gpam	C	A	19: 55,067,693 (GRCm39)	M483I	probably damaging	Het
Gpr12	T	C	5: 146,520,235 (GRCm39)	H229R	probably damaging	Het
Gpr149	T	C	3: 62,438,439 (GRCm39)	T573A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hells	T	A	19: 38,945,628 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,372,751 (GRCm39)	N3102K	probably benign	Het
Herc3	A	T	6: 58,893,827 (GRCm39)	T968S	possibly damaging	Het
Ift88	A	G	14: 57,674,736 (GRCm39)	Y69C	probably benign	Het
Incenp	G	A	19: 9,862,890 (GRCm39)	T388M	unknown	Het
Jrkl	A	G	9: 13,245,337 (GRCm39)	F108S	probably benign	Het
Khdc1a	A	G	1: 21,420,542 (GRCm39)	E54G	possibly damaging	Het
Kif6	T	A	17: 49,927,728 (GRCm39)	F58L	probably damaging	Het
Klk14	T	C	7: 43,344,342 (GRCm39)	S218P	probably damaging	Het
Kmt2e	T	C	5: 23,655,319 (GRCm39)	M19T	probably benign	Het
Llgl1	G	T	11: 60,599,380 (GRCm39)	G454C	probably damaging	Het
Lyrm4	A	G	13: 36,276,898 (GRCm39)	V33A	probably benign	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mgam	T	A	6: 40,733,301 (GRCm39)	M692K	probably damaging	Het
Mmp28	C	T	11: 83,333,765 (GRCm39)	R392H	probably damaging	Het
Mpdz	G	A	4: 81,210,788 (GRCm39)	T1699M	probably damaging	Het
Mrps11	T	C	7: 78,433,310 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,866 (GRCm39)	N504S	probably benign	Het
Msmo1	A	G	8: 65,180,650 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,961,403 (GRCm39)	E571G	probably benign	Het
Myh14	T	C	7: 44,265,723 (GRCm39)	E1585G	probably damaging	Het
Myrfl	A	G	10: 116,613,332 (GRCm39)	C824R	probably damaging	Het
Ncapd3	C	T	9: 26,981,168 (GRCm39)		probably benign	Het
Nlrp4a	G	GGTTCTTC	7: 26,163,622 (GRCm39)		probably null	Het
Nos1	C	T	5: 118,087,684 (GRCm39)		probably benign	Het
Notch3	T	C	17: 32,383,198 (GRCm39)	S47G	probably benign	Het
Npsr1	A	G	9: 24,221,371 (GRCm39)	Y122C	probably damaging	Het
Or10ak12	T	C	4: 118,666,435 (GRCm39)	M209V	probably benign	Het
Or1j11	C	T	2: 36,311,655 (GRCm39)	L82F	probably damaging	Het
Or5a1	G	T	19: 12,097,603 (GRCm39)	R158S	possibly damaging	Het
Or6c1b	C	T	10: 129,272,807 (GRCm39)	T42I	probably damaging	Het
Or6k2	T	A	1: 173,986,483 (GRCm39)	V48E	possibly damaging	Het
Or8b9	T	A	9: 37,766,548 (GRCm39)	L145M	possibly damaging	Het
Otog	G	T	7: 45,950,007 (GRCm39)	V2490F	probably damaging	Het
Pibf1	T	C	14: 99,350,425 (GRCm39)	V191A	probably benign	Het
Pip	A	G	6: 41,826,852 (GRCm39)	M66V	probably benign	Het
Plxna2	C	T	1: 194,449,771 (GRCm39)	R830C	probably benign	Het
Prkca	A	T	11: 107,830,346 (GRCm39)	V248E	probably benign	Het
Prmt7	T	A	8: 106,963,916 (GRCm39)	L253*	probably null	Het
Prrc2a	G	T	17: 35,372,888 (GRCm39)		probably benign	Het
Rasgrf1	A	G	9: 89,894,853 (GRCm39)	D1091G	probably benign	Het
Rbm7	C	A	9: 48,401,245 (GRCm39)	G161V	probably benign	Het
Scn1a	A	T	2: 66,152,773 (GRCm39)	I736N	probably damaging	Het
Skint6	A	G	4: 112,726,721 (GRCm39)		probably benign	Het
Slc22a2	C	T	17: 12,803,195 (GRCm39)	H10Y	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stam2	A	G	2: 52,604,821 (GRCm39)		probably benign	Het
Stk40	T	C	4: 126,030,626 (GRCm39)	L282P	probably damaging	Het
Tas2r110	A	G	6: 132,845,331 (GRCm39)	N121D	probably damaging	Het
Tbc1d32	A	G	10: 55,893,758 (GRCm39)	Y1272H	probably damaging	Het
Thoc2l	T	C	5: 104,665,970 (GRCm39)	F164S	probably damaging	Het
Tmem131l	T	C	3: 83,836,021 (GRCm39)	D696G	probably damaging	Het
Trdmt1	T	C	2: 13,524,657 (GRCm39)	Y266C	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Twf2	T	A	9: 106,092,012 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,926,635 (GRCm39)	T580A	probably benign	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc5a	A	G	13: 55,152,285 (GRCm39)		probably benign	Het
Vmn2r85	T	C	10: 130,261,155 (GRCm39)	N394S	possibly damaging	Het
Wrn	A	T	8: 33,809,169 (GRCm39)		probably benign	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
R1377:Acap2	UTSW	16	30,934,869 (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'- ACAAGGTAATGCCCAGGTTGATGC -3'
(R):5'- AGTAATATCACGTCTCCCACCCTGC -3'

Sequencing Primer
(F):5'- AGGTTGATGCTGGCCCAC -3'
(R):5'- GTGTCTAATGTCAGTCATCAATCG -3'

Posted On

2014-03-14