Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Acap2'

514419

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

044495-MU

Accession Numbers

Essential gene?

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

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31105546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 658 (D658G)

Ref Sequence

ENSEMBL: ENSMUSP00000156077 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

probably benign
Transcript: ENSMUST00000058033
AA Change: D605G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: D605G

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: D658G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230614
AA Change: D623G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231125
AA Change: D630G

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amz2	A	G	11: 109,428,827 (GRCm38)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,627,403 (GRCm38)		probably null	Het
Atp8a1	T	C	5: 67,682,927 (GRCm38)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,658,739 (GRCm38)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,648,114 (GRCm38)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,471,573 (GRCm38)		probably null	Het
Cxcl10	T	C	5: 92,348,213 (GRCm38)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,712,489 (GRCm38)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,204,251 (GRCm38)	D594E	probably benign	Het
Ddx5	T	C	11: 106,785,542 (GRCm38)		probably null	Het
Ddx58	T	A	4: 40,222,199 (GRCm38)		probably null	Het
Duox1	T	C	2: 122,337,721 (GRCm38)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,946,284 (GRCm38)		probably null	Het
Ecel1	A	G	1: 87,150,471 (GRCm38)		probably null	Het
Efcab6	T	G	15: 83,935,938 (GRCm38)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,777,998 (GRCm38)	L464P	possibly damaging	Het
Fam129c	C	T	8: 71,600,077 (GRCm38)	P65L	probably damaging	Het
Fam234a	T	A	17: 26,213,693 (GRCm38)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,088,145 (GRCm38)	V694A	probably damaging	Het
Gli2	T	C	1: 118,836,224 (GRCm38)	D1399G	probably damaging	Het
Gm10110	T	C	14: 89,896,708 (GRCm38)		noncoding transcript	Het
Hdac3	A	G	18: 37,944,164 (GRCm38)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,231,163 (GRCm38)	F52S	probably damaging	Het
Ints7	C	A	1: 191,613,127 (GRCm38)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,908,780 (GRCm38)	I878M	probably damaging	Het
Itga3	A	T	11: 95,055,851 (GRCm38)		probably null	Het
Lrfn5	T	A	12: 61,843,582 (GRCm38)	Y552*	probably null	Het
Mafb	T	C	2: 160,366,451 (GRCm38)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,095,399 (GRCm38)	S748C	probably damaging	Het
Mmp15	G	T	8: 95,365,463 (GRCm38)		probably null	Het
Mmp17	A	T	5: 129,601,955 (GRCm38)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,801,492 (GRCm38)	D1005V	probably damaging	Het
Myh3	T	C	11: 67,082,996 (GRCm38)	F165S	probably benign	Het
Nacc1	T	C	8: 84,674,791 (GRCm38)	D419G	probably benign	Het
Neb	G	A	2: 52,209,474 (GRCm38)	S4545L	probably damaging	Het
Npas2	T	C	1: 39,300,687 (GRCm38)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863 (GRCm38)	K427N	probably benign	Het
Olfr1448	T	C	19: 12,919,479 (GRCm38)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,694,911 (GRCm38)	Q2283L	probably benign	Het
Phax	C	T	18: 56,573,101 (GRCm38)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,102,829 (GRCm38)	K79*	probably null	Het
Pkd1	T	A	17: 24,580,227 (GRCm38)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,541,148 (GRCm38)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,458,349 (GRCm38)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,821 (GRCm38)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,972,712 (GRCm38)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,198,376 (GRCm38)	S181P	probably damaging	Het
Rlf	G	A	4: 121,149,360 (GRCm38)	Q808*	probably null	Het
Rogdi	G	T	16: 5,013,377 (GRCm38)		probably null	Het
Sec24a	A	T	11: 51,717,776 (GRCm38)	V573D	probably damaging	Het
Sorbs2	A	G	8: 45,770,578 (GRCm38)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,291,629 (GRCm38)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,936,665 (GRCm38)	V700E	probably benign	Het
Stt3a	A	T	9: 36,751,296 (GRCm38)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,597,259 (GRCm38)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,490,048 (GRCm38)	R421H	probably damaging	Het
Top3b	T	C	16: 16,879,071 (GRCm38)	M62T	probably damaging	Het
Trhr	T	G	15: 44,229,298 (GRCm38)	Y310*	probably null	Het
Urb2	G	T	8: 124,031,125 (GRCm38)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,381,353 (GRCm38)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,929,066 (GRCm38)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,010 (GRCm38)	M290K	probably benign	Het
Wdr75	T	C	1: 45,802,131 (GRCm38)		probably null	Het
Wnk1	A	T	6: 119,948,585 (GRCm38)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,670,778 (GRCm38)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,661,223 (GRCm38)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,800,697 (GRCm38)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,854,137 (GRCm38)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,720,123 (GRCm38)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,196,759 (GRCm38)	S276R	probably benign	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
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
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'- CGCCCTAATACAGCCTTAATGC -3'
(R):5'- GACCAGTCACTGCGATTCAC -3'

Sequencing Primer
(F):5'- AGCCTTAATGCATTAATTCATACCCC -3'
(R):5'- TGCATCCTGTGGTATGAGCAC -3'

Posted On

2018-04-27