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: 0.134) question?

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30911230-31020063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30924364 bp (GRCm39)

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: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,465,978 (GRCm39)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Ddx5	T	C	11: 106,676,368 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,065,127 (GRCm39)	V694A	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Mmp17	A	T	5: 129,679,019 (GRCm39)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Niban3	C	T	8: 72,052,721 (GRCm39)	P65L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or5b12	T	C	19: 12,896,843 (GRCm39)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,189,473 (GRCm39)	R421H	probably damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,555,957 (GRCm39)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	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
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
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'- CGCCCTAATACAGCCTTAATGC -3'
(R):5'- GACCAGTCACTGCGATTCAC -3'

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

Posted On

2018-04-27