Mutagenetix > Incidental Mutation

Incidental Mutation 'R1853:Acap2'

208370

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

039877-MU

Accession Numbers

Essential gene?

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

Stock #

R1853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31117304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 322 (E322K)

Ref Sequence

ENSEMBL: ENSMUSP00000154983 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058033
AA Change: E304K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: E304K

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: E322K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230614
AA Change: E322K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably damaging
Transcript: ENSMUST00000231125
AA Change: E329K

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110062M04Rik	A	G	6: 34,875,559	V67A	probably damaging	Het
9530053A07Rik	C	T	7: 28,155,546	Q1866*	probably null	Het
Acadvl	T	C	11: 70,010,870	K554E	probably damaging	Het
Adam32	T	C	8: 24,898,626	Y354C	probably benign	Het
Agl	A	T	3: 116,779,322	Y789*	probably null	Het
Aida	A	G	1: 183,306,445	T68A	probably benign	Het
Aldh3b3	T	A	19: 3,965,822	L264Q	probably damaging	Het
Anks6	T	C	4: 47,049,387	T173A	probably benign	Het
Ankzf1	A	G	1: 75,198,128		probably null	Het
Apob	A	T	12: 8,010,928	K3137*	probably null	Het
Arhgef16	C	T	4: 154,291,106	V144I	probably benign	Het
Arhgef2	A	T	3: 88,632,915	T107S	possibly damaging	Het
Atad2	G	A	15: 58,097,289	P971L	possibly damaging	Het
Atp6ap1l	T	C	13: 90,883,588	E325G	probably damaging	Het
BC035947	T	C	1: 78,499,016	N293S	possibly damaging	Het
Bhmt	C	T	13: 93,625,335	V147M	probably damaging	Het
Ccdc112	A	T	18: 46,285,700	H447Q	probably benign	Het
Cd274	T	A	19: 29,380,482	N191K	probably damaging	Het
Ckmt1	C	T	2: 121,360,650	T181I	probably damaging	Het
Cnih3	C	A	1: 181,454,621	S140*	probably null	Het
Col28a1	T	G	6: 8,014,574	I944L	probably benign	Het
Cttnbp2	T	C	6: 18,408,602	T1007A	probably benign	Het
Cux2	G	T	5: 121,869,121	P826T	possibly damaging	Het
Dap3	A	T	3: 88,930,926	V86E	probably damaging	Het
Ddah1	A	G	3: 145,891,549	I180M	probably benign	Het
Ddt	T	C	10: 75,773,304	E7G	possibly damaging	Het
Dhx57	A	T	17: 80,274,879	Y432*	probably null	Het
Dpp9	T	C	17: 56,202,885	I314V	probably benign	Het
Enpp2	C	T	15: 54,845,823	E803K	probably damaging	Het
Ercc6	T	A	14: 32,576,816	I1387N	possibly damaging	Het
Fancg	T	C	4: 43,009,727	E57G	probably benign	Het
Fkbp5	A	T	17: 28,429,307	C103S	possibly damaging	Het
Gm14403	C	A	2: 177,509,139	H293N	probably damaging	Het
Gm4353	G	A	7: 116,083,569	P259L	probably benign	Het
Gm4787	T	A	12: 81,378,334	H350L	probably damaging	Het
Hibch	T	C	1: 52,901,335		probably null	Het
Impg2	T	C	16: 56,260,277	S815P	probably damaging	Het
Ipo11	A	T	13: 106,860,887	I688K	probably benign	Het
Kcnd3	A	T	3: 105,459,752	T313S	probably damaging	Het
Kctd14	A	T	7: 97,453,424	S38C	possibly damaging	Het
Kdm3b	G	T	18: 34,833,393	R1660L	probably damaging	Het
Kdr	C	T	5: 75,952,905	G768S	possibly damaging	Het
Klhl2	G	A	8: 64,823,006	H82Y	probably benign	Het
Lama3	A	T	18: 12,513,705	T1759S	possibly damaging	Het
Lamb1	T	G	12: 31,318,272	C1134G	probably damaging	Het
Macf1	T	C	4: 123,512,720		probably null	Het
Mlph	C	T	1: 90,945,667	Q567*	probably null	Het
Mocos	A	C	18: 24,695,969	E777A	probably damaging	Het
Neil1	T	A	9: 57,144,715	Q214L	probably damaging	Het
Nes	A	G	3: 87,975,807	T458A	possibly damaging	Het
Nlgn1	A	T	3: 26,133,522	N71K	possibly damaging	Het
Nr4a1	T	C	15: 101,271,764	I305T	probably benign	Het
Nupl1	T	C	14: 60,244,547	T123A	possibly damaging	Het
Oas1c	A	T	5: 120,807,995	V146E	probably damaging	Het
Oit3	C	T	10: 59,441,622		probably null	Het
Olfr361	A	T	2: 37,085,220	F176Y	probably damaging	Het
Olfr726	A	G	14: 50,084,120	L187P	probably damaging	Het
Osbp	T	C	19: 11,973,891	S267P	possibly damaging	Het
Pclo	T	A	5: 14,676,684		probably benign	Het
Pde9a	C	T	17: 31,455,120	P60S	probably damaging	Het
Pdia3	T	C	2: 121,431,663	I205T	probably benign	Het
Pdia4	A	T	6: 47,813,227	D26E	unknown	Het
Pds5a	A	G	5: 65,624,029	V1036A	possibly damaging	Het
Pitx3	C	T	19: 46,137,473	G4R	probably benign	Het
Pnn	T	A	12: 59,071,613	N327K	probably damaging	Het
Pole	T	G	5: 110,306,853	I984R	possibly damaging	Het
Ppil2	A	C	16: 17,107,223	D28E	probably benign	Het
Psme2	T	A	14: 55,588,479	I124F	probably damaging	Het
Pstpip2	T	A	18: 77,871,799	L198Q	probably damaging	Het
Rnf165	T	A	18: 77,462,975	S279C	possibly damaging	Het
Siglece	A	G	7: 43,659,936	F66S	probably benign	Het
Slc1a6	T	A	10: 78,812,924	V493E	probably damaging	Het
Snd1	T	A	6: 28,545,564	I373N	probably damaging	Het
Srrm2	A	G	17: 23,820,525	T2144A	probably damaging	Het
Sst	A	G	16: 23,890,653	L31P	probably damaging	Het
Stab1	C	T	14: 31,140,463	V2305M	probably damaging	Het
Stard9	T	C	2: 120,688,751	I545T	probably damaging	Het
Tcaim	T	C	9: 122,826,206	W248R	probably damaging	Het
Tepsin	A	C	11: 120,098,636	F13C	probably damaging	Het
Terf1	T	A	1: 15,818,938	L197*	probably null	Het
Tiam2	C	T	17: 3,415,135	R380C	probably damaging	Het
Tmem63b	G	A	17: 45,661,297	H745Y	possibly damaging	Het
Trim40	A	G	17: 36,889,078	L36P	probably damaging	Het
Trim72	A	G	7: 128,009,082	I251V	probably benign	Het
Trio	T	C	15: 27,756,536	Y914C	probably damaging	Het
Vmn2r113	G	A	17: 22,945,527	V135I	probably benign	Het
Vmn2r117	T	A	17: 23,477,455	H326L	probably damaging	Het
Vmn2r28	A	T	7: 5,481,247	C651*	probably null	Het
Xpnpep1	T	C	19: 53,006,210	E329G	probably benign	Het
Xpo4	G	A	14: 57,585,907	T1042M	possibly damaging	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,305,542		probably null	Het
Zfp51	A	T	17: 21,464,323	H400L	probably damaging	Het
Zfp518b	A	T	5: 38,673,407	F418L	probably benign	Het
Zfp54	T	A	17: 21,434,142	Y299*	probably null	Het
Zfp672	T	C	11: 58,316,964	H177R	probably benign	Het
Zfp692	C	A	11: 58,309,979	P229T	possibly damaging	Het
Zswim4	A	T	8: 84,224,200	C533S	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
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'- TGCTGCTGGAAGTTATTTTCAC -3'
(R):5'- TGCTATAGAATCGTCTCCGTTATC -3'

Sequencing Primer
(F):5'- CAGAAACTGGAGTTCTCAA -3'
(R):5'- AGAATCGTCTCCGTTATCTGTATAC -3'

Posted On

2014-06-23