Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Cap2'

59064

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

cyclase associated actin cytoskeleton regulatory protein 2

Synonyms

2810452G09Rik

MMRRC Submission

038475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R0234 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

46655379-46803757 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to C at 46791498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021802] [ENSMUST00000119341] [ENSMUST00000225824]

AlphaFold

Q9CYT6

Predicted Effect

probably null
Transcript: ENSMUST00000021802

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373

Domain	Start	End	E-Value	Type
Pfam:CAP_N	5	301	2.6e-117	PFAM
CARP	358	395	1.06e-10	SMART
CARP	396	433	1.12e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119341

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373

Domain	Start	End	E-Value	Type
Pfam:CAP_N	4	105	1.8e-25	PFAM
Pfam:CAP_N	99	198	8.2e-29	PFAM
CARP	246	283	1.06e-10	SMART
CARP	284	321	1.12e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225444

Predicted Effect

probably null
Transcript: ENSMUST00000225824

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are smaller, prone to eye infections and show microphthalmia, cardiac conduction defects and dilated cardiomyopathy, predominantly in males. Males are underrepresented at weaning and ~70% die suddenly by 12 weeks of age, whereas females survive at nearly expected levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,941 (GRCm39)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,347,878 (GRCm39)	H983L	probably damaging	Het
Adal	T	A	2: 120,978,798 (GRCm39)	D139E	probably benign	Het
Adam6b	G	A	12: 113,454,230 (GRCm39)	R349H	probably damaging	Het
Agap1	A	G	1: 89,598,934 (GRCm39)	K331E	probably damaging	Het
Alyref	T	C	11: 120,489,133 (GRCm39)	D11G	probably damaging	Het
B3gat1	A	G	9: 26,667,377 (GRCm39)	E203G	probably damaging	Het
Bsn	T	C	9: 107,993,595 (GRCm39)	E719G	possibly damaging	Het
Ccni	A	G	5: 93,350,186 (GRCm39)	V31A	probably benign	Het
Cdcp3	T	A	7: 130,796,032 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,735,022 (GRCm39)	L2343*	probably null	Het
Clns1a	T	A	7: 97,363,239 (GRCm39)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Dsp	A	G	13: 38,371,869 (GRCm39)	N940S	probably benign	Het
Erbb2	T	C	11: 98,327,265 (GRCm39)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,839,022 (GRCm39)	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,305,384 (GRCm39)	V330A	possibly damaging	Het
Fbf1	A	C	11: 116,045,860 (GRCm39)	F245V	probably damaging	Het
Fut10	T	A	8: 31,726,225 (GRCm39)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,387,690 (GRCm39)	P144S	probably damaging	Het
Garin4	T	C	1: 190,895,105 (GRCm39)	S513G	probably benign	Het
Ghrhr	A	T	6: 55,356,171 (GRCm39)	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331 (GRCm39)	C1864S	probably damaging	Het
H1f2	T	C	13: 23,923,106 (GRCm39)	I92T	probably benign	Het
Hps1	T	C	19: 42,750,992 (GRCm39)	E336G	probably damaging	Het
Ibsp	GGAAGAAGAAGAAGAAGA	GGAAGAAGAAGAAGA	5: 104,457,935 (GRCm39)		probably benign	Het
Irgc	C	A	7: 24,132,753 (GRCm39)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,625,168 (GRCm39)	R590*	probably null	Het
Katnip	T	C	7: 125,394,557 (GRCm39)	V211A	probably benign	Het
Lmln	T	C	16: 32,886,694 (GRCm39)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,065,042 (GRCm39)	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,289,836 (GRCm39)	D119E	probably benign	Het
Mrc1	A	G	2: 14,284,705 (GRCm39)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,235,939 (GRCm39)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,078,066 (GRCm39)	D448E	probably benign	Het
Neil2	T	A	14: 63,420,975 (GRCm39)	I239F	probably damaging	Het
Npnt	A	G	3: 132,620,175 (GRCm39)	F123S	possibly damaging	Het
Or2g25	T	A	17: 37,970,997 (GRCm39)	I76F	probably damaging	Het
Or4f15	T	C	2: 111,813,645 (GRCm39)	Y258C	probably damaging	Het
Or52x1	C	A	7: 104,852,821 (GRCm39)	C243F	probably damaging	Het
Or56a5	T	C	7: 104,793,281 (GRCm39)	D73G	probably damaging	Het
Or5d37	T	A	2: 87,923,366 (GRCm39)	R305*	probably null	Het
Or8d1b	A	C	9: 38,887,547 (GRCm39)		probably null	Het
Or9i2	C	T	19: 13,815,902 (GRCm39)	V212M	possibly damaging	Het
Pcnx3	T	C	19: 5,722,646 (GRCm39)	T941A	probably benign	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Pitrm1	C	A	13: 6,625,115 (GRCm39)	Y864*	probably null	Het
Plcb4	T	C	2: 135,823,995 (GRCm39)	I844T	probably benign	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Ppp1r3b	T	A	8: 35,851,655 (GRCm39)	F165I	probably damaging	Het
Prr5	T	A	15: 84,587,322 (GRCm39)	F357L	probably damaging	Het
Rasgrf1	A	T	9: 89,891,419 (GRCm39)	I1046F	probably damaging	Het
Rbm15b	T	C	9: 106,762,563 (GRCm39)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,677,858 (GRCm39)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,433,292 (GRCm39)	N343S	probably benign	Het
Rrp12	A	G	19: 41,860,199 (GRCm39)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,674,794 (GRCm39)	R226C	probably damaging	Het
Sirpa	T	C	2: 129,457,388 (GRCm39)	V154A	probably damaging	Het
Slc13a5	C	G	11: 72,141,626 (GRCm39)	V405L	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc22a23	G	A	13: 34,367,244 (GRCm39)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,904,156 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a5	A	T	8: 71,342,277 (GRCm39)	M258K	probably damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,505,711 (GRCm39)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,284,750 (GRCm39)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,220,365 (GRCm39)	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,286,184 (GRCm39)	N546K	probably benign	Het
Tnn	T	A	1: 159,916,036 (GRCm39)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Trf	T	C	9: 103,104,078 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,968,737 (GRCm39)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Wipf3	T	G	6: 54,473,486 (GRCm39)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,648,119 (GRCm39)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,593,532 (GRCm39)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,370,768 (GRCm39)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,415,689 (GRCm39)	V321E	probably damaging	Het

Other mutations in Cap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Cap2	APN	13	46,793,425 (GRCm39)	splice site	probably benign
IGL01927:Cap2	APN	13	46,789,109 (GRCm39)	missense	probably benign	0.03
IGL02213:Cap2	APN	13	46,789,087 (GRCm39)	splice site	probably benign
IGL02511:Cap2	APN	13	46,684,498 (GRCm39)	start codon destroyed	probably null	0.12
IGL02871:Cap2	APN	13	46,678,968 (GRCm39)	missense	probably benign	0.00
R0063:Cap2	UTSW	13	46,791,508 (GRCm39)	splice site	probably benign
R0063:Cap2	UTSW	13	46,791,508 (GRCm39)	splice site	probably benign
R0234:Cap2	UTSW	13	46,791,498 (GRCm39)	critical splice donor site	probably null
R0385:Cap2	UTSW	13	46,714,023 (GRCm39)	missense	probably damaging	1.00
R0387:Cap2	UTSW	13	46,713,992 (GRCm39)	missense	probably damaging	0.99
R0712:Cap2	UTSW	13	46,768,837 (GRCm39)	splice site	probably null
R1489:Cap2	UTSW	13	46,763,111 (GRCm39)	missense	probably damaging	1.00
R1666:Cap2	UTSW	13	46,768,799 (GRCm39)	missense	probably damaging	0.98
R1668:Cap2	UTSW	13	46,768,799 (GRCm39)	missense	probably damaging	0.98
R1676:Cap2	UTSW	13	46,791,335 (GRCm39)	missense	probably damaging	1.00
R1756:Cap2	UTSW	13	46,684,489 (GRCm39)	missense	probably benign	0.11
R1822:Cap2	UTSW	13	46,768,823 (GRCm39)	missense	probably benign	0.03
R1867:Cap2	UTSW	13	46,793,555 (GRCm39)	missense	probably damaging	1.00
R1972:Cap2	UTSW	13	46,791,375 (GRCm39)	missense	probably damaging	0.98
R1990:Cap2	UTSW	13	46,791,357 (GRCm39)	missense	possibly damaging	0.93
R1991:Cap2	UTSW	13	46,791,357 (GRCm39)	missense	possibly damaging	0.93
R1992:Cap2	UTSW	13	46,791,357 (GRCm39)	missense	possibly damaging	0.93
R2144:Cap2	UTSW	13	46,713,978 (GRCm39)	critical splice acceptor site	probably null
R3039:Cap2	UTSW	13	46,793,317 (GRCm39)	missense	probably benign	0.20
R4024:Cap2	UTSW	13	46,791,317 (GRCm39)	splice site	probably benign
R4554:Cap2	UTSW	13	46,789,250 (GRCm39)	missense	probably damaging	1.00
R4748:Cap2	UTSW	13	46,793,302 (GRCm39)	missense	possibly damaging	0.64
R4821:Cap2	UTSW	13	46,763,586 (GRCm39)	missense	probably damaging	0.99
R4876:Cap2	UTSW	13	46,684,497 (GRCm39)	start codon destroyed	probably null
R4902:Cap2	UTSW	13	46,684,501 (GRCm39)	missense	probably damaging	0.99
R5320:Cap2	UTSW	13	46,801,840 (GRCm39)	makesense	probably null
R5666:Cap2	UTSW	13	46,684,559 (GRCm39)	splice site	probably null
R5670:Cap2	UTSW	13	46,684,559 (GRCm39)	splice site	probably null
R6086:Cap2	UTSW	13	46,789,188 (GRCm39)	missense	probably damaging	1.00
R6728:Cap2	UTSW	13	46,793,335 (GRCm39)	missense	possibly damaging	0.87
R6842:Cap2	UTSW	13	46,800,101 (GRCm39)	missense	probably damaging	1.00
R7785:Cap2	UTSW	13	46,789,224 (GRCm39)	missense	probably benign
R7889:Cap2	UTSW	13	46,800,051 (GRCm39)	missense	probably damaging	0.99
R8065:Cap2	UTSW	13	46,791,337 (GRCm39)	missense	probably damaging	1.00
R8205:Cap2	UTSW	13	46,768,739 (GRCm39)	missense	probably damaging	1.00
R8425:Cap2	UTSW	13	46,763,208 (GRCm39)	missense	probably damaging	0.98
R8731:Cap2	UTSW	13	46,800,006 (GRCm39)	missense	probably benign	0.00
R8738:Cap2	UTSW	13	46,684,548 (GRCm39)	missense	probably benign	0.00
R9320:Cap2	UTSW	13	46,768,818 (GRCm39)	missense	probably benign	0.04
R9491:Cap2	UTSW	13	46,791,366 (GRCm39)	missense	possibly damaging	0.92
R9686:Cap2	UTSW	13	46,678,926 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTGTACCTACGCTGTGCCACC -3'
(R):5'- CAAGACTGTAGACGTGCCTGGTTTC -3'

Sequencing Primer
(F):5'- caagacaatcccccacagac -3'
(R):5'- ACGTGCCTGGTTTCTCATTTTG -3'

Posted On

2013-07-11