Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Acap2'

567542

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

045409-MU

Accession Numbers

Essential gene?

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

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31092412-31201245 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 31108154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 489 (Y489*)

Ref Sequence

ENSEMBL: ENSMUSP00000061501 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

probably null
Transcript: ENSMUST00000058033
AA Change: Y489*

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: Y489*

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 null
Transcript: ENSMUST00000229010
AA Change: Y507*

Predicted Effect

probably null
Transcript: ENSMUST00000230614
AA Change: Y507*

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

probably null
Transcript: ENSMUST00000231125
AA Change: Y514*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,880,268 (GRCm38)	Q192L	possibly damaging	Het
3110002H16Rik	A	G	18: 12,184,915 (GRCm38)	K362E	probably benign	Het
Abat	G	A	16: 8,605,593 (GRCm38)	R250Q	probably null	Het
Abcg3	A	C	5: 104,966,766 (GRCm38)	F295C	probably benign	Het
Abl1	T	C	2: 31,800,592 (GRCm38)	S708P	possibly damaging	Het
Akr1c6	A	T	13: 4,436,355 (GRCm38)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,542,487 (GRCm38)		probably null	Het
Asap1	A	G	15: 64,099,530 (GRCm38)		probably null	Het
Atrnl1	A	T	19: 57,642,424 (GRCm38)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136 (GRCm38)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139 (GRCm38)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,888,148 (GRCm38)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,888,173 (GRCm38)		probably benign	Het
BC049762	A	C	11: 51,254,647 (GRCm38)	W38G	probably damaging	Het
Bmi1	T	C	2: 18,684,419 (GRCm38)	S305P	probably benign	Het
Bpifc	T	A	10: 85,963,027 (GRCm38)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,415,238 (GRCm38)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,314,916 (GRCm38)	D428V	probably damaging	Het
Card14	A	C	11: 119,326,179 (GRCm38)	Q363P	probably null	Het
Cdca2	A	T	14: 67,713,224 (GRCm38)	L86H	probably damaging	Het
Cdh22	G	T	2: 165,112,294 (GRCm38)	S769*	probably null	Het
Cep164	T	C	9: 45,775,366 (GRCm38)	E690G	probably damaging	Het
Cluh	A	G	11: 74,669,459 (GRCm38)	H1304R	probably benign	Het
Daxx	C	A	17: 33,910,461 (GRCm38)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,596,967 (GRCm38)	M1117V	possibly damaging	Het
Dusp27	G	A	1: 166,098,731 (GRCm38)	T1104I	possibly damaging	Het
Entpd3	T	A	9: 120,560,755 (GRCm38)		probably null	Het
Esr1	G	A	10: 4,939,259 (GRCm38)	A386T	probably damaging	Het
Etv5	G	A	16: 22,401,737 (GRCm38)	P300L	probably benign	Het
Exoc3l	A	T	8: 105,293,708 (GRCm38)	L195Q	probably damaging	Het
Exog	T	C	9: 119,445,003 (GRCm38)	L18P	unknown	Het
Fgfr1	T	A	8: 25,562,315 (GRCm38)	V219D	probably benign	Het
Gm28710	A	G	5: 16,870,248 (GRCm38)	Y872C	possibly damaging	Het
Gna14	A	T	19: 16,533,749 (GRCm38)	Q54L		Het
Gnb5	T	C	9: 75,314,288 (GRCm38)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,453,390 (GRCm38)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,241,457 (GRCm38)	D48E	probably damaging	Het
Hrc	T	A	7: 45,335,803 (GRCm38)	L126*	probably null	Het
Hspa8	T	G	9: 40,803,408 (GRCm38)	D333E	probably benign	Het
Igsf3	T	A	3: 101,431,579 (GRCm38)	V403D	probably benign	Het
Itga10	C	A	3: 96,648,159 (GRCm38)	A143D	probably damaging	Het
Kdr	T	A	5: 75,944,325 (GRCm38)	I1082F	probably damaging	Het
Klk11	A	T	7: 43,778,830 (GRCm38)	I242F	probably damaging	Het
Kng2	G	A	16: 22,987,772 (GRCm38)	T559I	probably benign	Het
Map1b	G	A	13: 99,433,655 (GRCm38)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm38)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,462,251 (GRCm38)	T358S	probably damaging	Het
Mttp	T	C	3: 138,095,022 (GRCm38)	D759G	probably damaging	Het
Mup17	T	A	4: 61,593,692 (GRCm38)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,705,828 (GRCm38)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,871,153 (GRCm38)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,381 (GRCm38)		probably null	Het
Ncf1	A	T	5: 134,221,761 (GRCm38)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,722,214 (GRCm38)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,830,583 (GRCm38)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,770,744 (GRCm38)	H172Q		Het
Nup205	T	A	6: 35,225,969 (GRCm38)	D1370E	possibly damaging	Het
Olfr1447	A	G	19: 12,901,273 (GRCm38)	F169S	probably damaging	Het
Olfr392	A	C	11: 73,814,286 (GRCm38)	N265K	probably damaging	Het
Olfr613	T	A	7: 103,552,685 (GRCm38)	I300N	probably damaging	Het
Pkd1l2	A	G	8: 117,024,034 (GRCm38)	V1746A	probably benign	Het
Plin2	T	A	4: 86,668,391 (GRCm38)	I68F	probably benign	Het
Proc	A	T	18: 32,135,899 (GRCm38)	M11K	probably benign	Het
Rif1	T	C	2: 52,105,619 (GRCm38)	V950A	probably benign	Het
Rnf208	C	A	2: 25,243,575 (GRCm38)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,521,011 (GRCm38)	Y269*	probably null	Het
Senp7	T	C	16: 56,186,082 (GRCm38)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,372,495 (GRCm38)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,399,696 (GRCm38)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,992,440 (GRCm38)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,379,025 (GRCm38)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,202,348 (GRCm38)	I199L	probably damaging	Het
Tle4	A	T	19: 14,517,791 (GRCm38)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,031,651 (GRCm38)	S271*	probably null	Het
Tnks2	G	A	19: 36,879,439 (GRCm38)	V855I	probably benign	Het
Trank1	T	C	9: 111,367,126 (GRCm38)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,800,573 (GRCm38)	E243G	probably damaging	Het
Trim25	A	T	11: 89,015,782 (GRCm38)	N448I	probably benign	Het
Trim31	T	A	17: 36,907,302 (GRCm38)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,066,279 (GRCm38)	V502E	possibly damaging	Het
Usp10	A	C	8: 119,941,605 (GRCm38)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,360,389 (GRCm38)	L102*	probably null	Het
Wdr12	A	T	1: 60,082,575 (GRCm38)	C272*	probably null	Het
Xndc1	A	C	7: 102,078,731 (GRCm38)		probably null	Het
Zkscan2	T	C	7: 123,490,053 (GRCm38)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,984,688 (GRCm38)	T822S	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
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
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'- TGCACAGAAGGAAATAGGCTTC -3'
(R):5'- CAGGTCTTCTGGTAACTGCTGG -3'

Sequencing Primer
(F):5'- CCTACAATGGCCATAATTGTGAG -3'
(R):5'- CTGGTAACTGCTGGGCCATTC -3'

Posted On

2019-06-26