Mutagenetix > Incidental Mutation

Incidental Mutation 'R3039:Cap2'

264903

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

cyclase associated actin cytoskeleton regulatory protein 2

Synonyms

2810452G09Rik

MMRRC Submission

040555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R3039 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46655379-46803757 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46793317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 228 (N228D)

Ref Sequence

ENSEMBL: ENSMUSP00000112952 (fasta)

Gene Model

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

AlphaFold

Q9CYT6

Predicted Effect

probably benign
Transcript: ENSMUST00000021802
AA Change: N340D

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: N340D

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 benign
Transcript: ENSMUST00000119341
AA Change: N228D

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: N228D

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 benign
Transcript: ENSMUST00000225824
AA Change: N285D

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	A	5: 113,830,797 (GRCm39)	K64N	unknown	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cd300ld	A	G	11: 114,877,003 (GRCm39)	S143P	probably benign	Het
Cmya5	A	G	13: 93,228,758 (GRCm39)	V2110A	probably benign	Het
Dusp29	A	G	14: 21,752,975 (GRCm39)	V57A	probably damaging	Het
Gpat3	T	C	5: 101,045,671 (GRCm39)	S432P	possibly damaging	Het
Lgi4	C	T	7: 30,759,492 (GRCm39)	A16V	probably benign	Het
Nsmce1	T	C	7: 125,070,328 (GRCm39)	E161G	probably damaging	Het
Pdgfa	A	G	5: 138,972,114 (GRCm39)	V95A	probably benign	Het
Pes1	T	C	11: 3,925,547 (GRCm39)	Y221H	probably damaging	Het
Phf19	T	C	2: 34,795,534 (GRCm39)	E179G	probably benign	Het
Rpap2	G	A	5: 107,749,661 (GRCm39)	V62I	possibly damaging	Het
Ush2a	T	C	1: 188,643,744 (GRCm39)	S4369P	probably damaging	Het
Wdr1	A	G	5: 38,687,428 (GRCm39)	I201T	possibly damaging	Het
Zhx1	T	C	15: 57,916,647 (GRCm39)	D533G	possibly 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
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
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'- ACATTAAGGCCTGGAGGTTTCTC -3'
(R):5'- ACACCAGGCCAAACTTCTTG -3'

Sequencing Primer
(F):5'- AGTTGGTTCGACCCATCT -3'
(R):5'- AGCTCTGGTAAACGCACG -3'

Posted On

2015-02-05