Mutagenetix > Incidental Mutation

Incidental Mutation 'R9026:Acap2'

686770

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

068855-MU

Accession Numbers

Essential gene?

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

Stock #

R9026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30911230-31020063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30925906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 550 (L550P)

Ref Sequence

ENSEMBL: ENSMUSP00000061501 (fasta)

Gene Model

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

AlphaFold

Q6ZQK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058033
AA Change: L550P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061501
Gene: ENSMUSG00000049076
AA Change: L550P

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 benign
Transcript: ENSMUST00000229010
AA Change: L603P

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230614
AA Change: L568P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000230698

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231125
AA Change: L575P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,770,909 (GRCm39)	Q33K	possibly damaging	Het
Acsm3	A	T	7: 119,373,845 (GRCm39)	S244C	probably benign	Het
Adam28	T	A	14: 68,846,593 (GRCm39)	D740V	probably benign	Het
Adcy4	C	A	14: 56,016,426 (GRCm39)	V342L	probably damaging	Het
Adcyap1r1	A	G	6: 55,458,107 (GRCm39)	T303A	probably benign	Het
Agr2	T	C	12: 36,046,091 (GRCm39)	V74A	probably benign	Het
Akp3	A	T	1: 87,054,786 (GRCm39)	T374S	possibly damaging	Het
Ankrd36	A	T	11: 5,610,696 (GRCm39)	I1181L	probably benign	Het
Arhgap11a	A	T	2: 113,664,411 (GRCm39)	V624E	probably benign	Het
Arhgap30	A	T	1: 171,228,258 (GRCm39)	D112V	probably damaging	Het
Atp8b4	A	G	2: 126,184,883 (GRCm39)	F927L	probably benign	Het
Bend4	C	A	5: 67,584,475 (GRCm39)	G150C	unknown	Het
Cd300lg	T	A	11: 101,944,998 (GRCm39)	S403T	probably damaging	Het
Cep57l1	T	A	10: 41,607,086 (GRCm39)	Q159L	probably damaging	Het
Cipc	C	T	12: 86,999,634 (GRCm39)	T57M	probably damaging	Het
Def8	T	C	8: 124,186,391 (GRCm39)	C377R	probably damaging	Het
Dock1	A	G	7: 134,720,746 (GRCm39)	D1285G	probably damaging	Het
Efcab10	A	G	12: 33,448,398 (GRCm39)	D77G	probably damaging	Het
Eml4	C	T	17: 83,764,479 (GRCm39)	T663M	probably damaging	Het
Ercc8	A	G	13: 108,320,389 (GRCm39)	E325G	possibly damaging	Het
Ermap	C	A	4: 119,035,240 (GRCm39)	A583S	probably damaging	Het
F13a1	C	T	13: 37,102,506 (GRCm39)	G406S	probably null	Het
Faap20	T	A	4: 155,335,426 (GRCm39)	C141S	probably benign	Het
Fam193a	A	G	5: 34,616,536 (GRCm39)	T904A	possibly damaging	Het
Garin2	T	C	12: 78,757,097 (GRCm39)	F18S	probably benign	Het
Gas8	A	G	8: 124,260,134 (GRCm39)	D455G	probably benign	Het
Gm21863	T	C	12: 20,004,521 (GRCm39)	S6P	probably damaging	Het
Gm4841	A	T	18: 60,403,988 (GRCm39)	I35N	probably damaging	Het
Grk4	T	A	5: 34,877,084 (GRCm39)	C260S	probably damaging	Het
Huwe1	G	A	X: 150,716,084 (GRCm39)	R4331Q	unknown	Het
Ighv5-6	A	G	12: 113,589,247 (GRCm39)	Y78H	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kl	T	A	5: 150,876,491 (GRCm39)	S104T	probably benign	Het
Lyve1	C	A	7: 110,453,182 (GRCm39)	C138F	probably damaging	Het
Med27	G	A	2: 29,399,446 (GRCm39)	W92*	probably null	Het
Mical3	A	T	6: 120,986,848 (GRCm39)		probably benign	Het
Mrgpra4	C	A	7: 47,631,208 (GRCm39)	R131L	possibly damaging	Het
Myf5	T	C	10: 107,321,308 (GRCm39)	N162S	probably benign	Het
Myh15	G	A	16: 49,007,433 (GRCm39)	E1835K	probably damaging	Het
Myo9a	T	A	9: 59,716,757 (GRCm39)	Y486N	probably damaging	Het
Ncapg	T	A	5: 45,853,115 (GRCm39)	N860K	probably benign	Het
Nr4a3	T	C	4: 48,052,194 (GRCm39)	F316S	possibly damaging	Het
Nsd3	T	A	8: 26,172,576 (GRCm39)	S778R	probably benign	Het
Or2r2	A	G	6: 42,463,795 (GRCm39)	F111L	probably damaging	Het
Or4c119	A	T	2: 88,986,988 (GRCm39)	V177E	probably benign	Het
Or4c31	A	G	2: 88,292,196 (GRCm39)	I190V	probably damaging	Het
Or5p6	A	G	7: 107,631,286 (GRCm39)	F88S	probably damaging	Het
Or7e173	T	C	9: 19,938,344 (GRCm39)	N297D		Het
Or8b37	T	A	9: 37,958,885 (GRCm39)	Y122*	probably null	Het
Or8w1	A	T	2: 87,465,369 (GRCm39)	C241S	probably damaging	Het
Or9m2	A	G	2: 87,820,568 (GRCm39)	T38A	probably damaging	Het
Pdlim4	C	T	11: 53,946,280 (GRCm39)	G231S	probably benign	Het
Pknox2	C	T	9: 36,821,044 (GRCm39)	V273I	possibly damaging	Het
Pm20d1	A	G	1: 131,739,822 (GRCm39)	H390R	probably benign	Het
Prkg2	A	T	5: 99,114,386 (GRCm39)	D587E	probably benign	Het
Prps1l1	T	A	12: 35,035,546 (GRCm39)	D220E	possibly damaging	Het
Prss3l	A	G	6: 41,422,990 (GRCm39)	F4L	probably benign	Het
Ptchd3	T	C	11: 121,721,682 (GRCm39)	V185A	possibly damaging	Het
Rag2	A	T	2: 101,460,494 (GRCm39)	N268I	possibly damaging	Het
Rarres2	A	G	6: 48,549,020 (GRCm39)		probably null	Het
Rrp12	T	C	19: 41,860,223 (GRCm39)	H1000R	probably benign	Het
S100a2	A	T	3: 90,498,811 (GRCm39)	Y104F	unknown	Het
Sell	A	G	1: 163,893,042 (GRCm39)	Y86C	probably damaging	Het
Serpinb6d	A	T	13: 33,851,656 (GRCm39)	T138S	possibly damaging	Het
Slamf7	T	A	1: 171,466,312 (GRCm39)	I228F	probably benign	Het
Slc11a1	G	A	1: 74,416,325 (GRCm39)	V92M	probably damaging	Het
Spi1	A	G	2: 90,912,862 (GRCm39)	N5S	unknown	Het
Stard9	G	T	2: 120,536,283 (GRCm39)	D4151Y	probably damaging	Het
Stmnd1	A	G	13: 46,452,983 (GRCm39)	T220A	probably benign	Het
Tacc2	G	T	7: 130,225,266 (GRCm39)	W650C	probably damaging	Het
Tmc5	A	G	7: 118,241,594 (GRCm39)	N429S	possibly damaging	Het
Tmem201	A	C	4: 149,812,627 (GRCm39)	L230V	probably benign	Het
Tmem222	T	C	4: 132,997,119 (GRCm39)	E94G	possibly damaging	Het
Trappc4	A	G	9: 44,315,655 (GRCm39)	F186S	probably damaging	Het
Trim17	A	G	11: 58,862,273 (GRCm39)	N435S	probably benign	Het
Trim68	A	T	7: 102,329,447 (GRCm39)	L227Q	probably damaging	Het
Tuba3b	T	G	6: 145,563,996 (GRCm39)	V14G	possibly damaging	Het
Ubr2	G	T	17: 47,245,041 (GRCm39)	H1662N	probably damaging	Het
Vps13c	T	A	9: 67,861,863 (GRCm39)	V2915E	probably damaging	Het
Vsig10	C	T	5: 117,476,323 (GRCm39)	T259I	probably benign	Het
Zfp267	A	G	3: 36,219,066 (GRCm39)	Y363C	possibly damaging	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
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
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'- TCAATACTCCCACGGGTGTG -3'
(R):5'- ATGCTTCCATGTGCCAGCTC -3'

Sequencing Primer
(F):5'- TCCCCAGCAGGAAGGTG -3'
(R):5'- GGGAGACAGTGTTCTAAGTG -3'

Posted On

2021-11-19