Mutagenetix > Incidental Mutation

Incidental Mutation 'R8731:Cap2'

662769

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

CAP, adenylate cyclase-associated protein, 2 (yeast)

Synonyms

MMRRC Submission

068579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R8731 (G1)

Quality Score

208.009

Status

Validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46646530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 404 (M404T)

Ref Sequence

ENSEMBL: ENSMUSP00000021802 (fasta)

Gene Model

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

AlphaFold

Q9CYT6

Predicted Effect

probably benign
Transcript: ENSMUST00000021802
AA Change: M404T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: M404T

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

possibly damaging
Transcript: ENSMUST00000119341
AA Change: M292T

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112952
Gene: ENSMUSG00000021373
AA Change: M292T

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

probably benign
Transcript: ENSMUST00000225824
AA Change: M349T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 95.9%

Validation Efficiency

100% (48/48)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 60,024,946	D294V	probably benign	Het
Abcc8	T	G	7: 46,154,562	Y396S	probably damaging	Het
Ace	T	A	11: 105,970,600	F192I	possibly damaging	Het
Apeh	A	G	9: 108,087,223	S494P	probably benign	Het
Bod1	A	G	11: 31,669,242		probably null	Het
Cc2d2a	A	T	5: 43,735,446	D1450V	probably damaging	Het
Ccdc144b	A	T	3: 36,035,285	N163K	probably benign	Het
Cdk5rap2	A	T	4: 70,245,510		probably benign	Het
Clip1	A	C	5: 123,614,693	S342A		Het
Cox10	A	G	11: 63,964,219	F412S	probably damaging	Het
Cracr2a	T	G	6: 127,625,927		probably null	Het
Dcaf7	T	A	11: 106,054,722	M299K	possibly damaging	Het
Dffb	T	C	4: 153,974,644	T59A	possibly damaging	Het
Dgkd	A	G	1: 87,916,813	M234V	possibly damaging	Het
Disp1	A	T	1: 183,087,508	V1116E	possibly damaging	Het
Dpysl3	C	T	18: 43,438,092	C39Y	probably damaging	Het
Dync1h1	T	A	12: 110,640,584	V2565D	possibly damaging	Het
Fam227b	A	T	2: 126,126,978	Y59N	possibly damaging	Het
Gm21680	A	T	5: 25,968,232	V210D	probably damaging	Het
Gnas	T	C	2: 174,284,906	V78A	probably benign	Het
Gpr179	T	C	11: 97,343,729	T509A	probably damaging	Het
Igfn1	A	G	1: 135,997,836	M60T	probably benign	Het
Llgl2	A	G	11: 115,851,190	Q686R	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk3	T	G	8: 85,359,005	E300A	probably benign	Het
Myo1b	A	C	1: 51,760,411		probably benign	Het
Myo9b	T	C	8: 71,353,842		probably null	Het
Nalcn	T	C	14: 123,599,854	I33V	probably benign	Het
Nsl1	A	G	1: 191,082,412	Y270C	probably damaging	Het
Olfr312	C	T	11: 58,831,442	A96V	probably benign	Het
Otulin	A	G	15: 27,608,842	M205T	probably benign	Het
Plch1	A	T	3: 63,697,638	V1615E	probably benign	Het
Rab9	C	T	X: 166,457,758	D186N	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scn3a	A	T	2: 65,468,163	Y1397*	probably null	Het
Scrib	A	T	15: 76,063,639	H549Q	probably benign	Het
Slc36a4	A	G	9: 15,719,752	I56V	possibly damaging	Het
Spata7	T	A	12: 98,658,282	S148T	probably damaging	Het
Stk31	T	A	6: 49,438,501	L590Q	probably benign	Het
Tanc1	T	C	2: 59,843,252	V1567A	probably benign	Het
Tspan33	T	C	6: 29,717,311	F237S	probably damaging	Het
Uhrf1	T	A	17: 56,322,363	L737Q	probably damaging	Het
Vmn2r2	A	G	3: 64,116,983	F726L	probably benign	Het
Vmn2r65	A	T	7: 84,940,239	L823*	probably null	Het
Vps11	T	C	9: 44,354,459	N508D	probably benign	Het

Other mutations in Cap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Cap2	APN	13	46639949	splice site	probably benign
IGL01927:Cap2	APN	13	46635633	missense	probably benign	0.03
IGL02213:Cap2	APN	13	46635611	splice site	probably benign
IGL02511:Cap2	APN	13	46531022	start codon destroyed	probably null	0.12
IGL02871:Cap2	APN	13	46525492	missense	probably benign	0.00
R0063:Cap2	UTSW	13	46638032	splice site	probably benign
R0063:Cap2	UTSW	13	46638032	splice site	probably benign
R0234:Cap2	UTSW	13	46638022	critical splice donor site	probably null
R0234:Cap2	UTSW	13	46638022	critical splice donor site	probably null
R0385:Cap2	UTSW	13	46560547	missense	probably damaging	1.00
R0387:Cap2	UTSW	13	46560516	missense	probably damaging	0.99
R0712:Cap2	UTSW	13	46615361	splice site	probably null
R1489:Cap2	UTSW	13	46609635	missense	probably damaging	1.00
R1666:Cap2	UTSW	13	46615323	missense	probably damaging	0.98
R1668:Cap2	UTSW	13	46615323	missense	probably damaging	0.98
R1676:Cap2	UTSW	13	46637859	missense	probably damaging	1.00
R1756:Cap2	UTSW	13	46531013	missense	probably benign	0.11
R1822:Cap2	UTSW	13	46615347	missense	probably benign	0.03
R1867:Cap2	UTSW	13	46640079	missense	probably damaging	1.00
R1972:Cap2	UTSW	13	46637899	missense	probably damaging	0.98
R1990:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R1991:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R1992:Cap2	UTSW	13	46637881	missense	possibly damaging	0.93
R2144:Cap2	UTSW	13	46560502	critical splice acceptor site	probably null
R3039:Cap2	UTSW	13	46639841	missense	probably benign	0.20
R4024:Cap2	UTSW	13	46637841	splice site	probably benign
R4554:Cap2	UTSW	13	46635774	missense	probably damaging	1.00
R4748:Cap2	UTSW	13	46639826	missense	possibly damaging	0.64
R4821:Cap2	UTSW	13	46610110	missense	probably damaging	0.99
R4876:Cap2	UTSW	13	46531021	start codon destroyed	probably null
R4902:Cap2	UTSW	13	46531025	missense	probably damaging	0.99
R5320:Cap2	UTSW	13	46648364	makesense	probably null
R5666:Cap2	UTSW	13	46531083	splice site	probably null
R5670:Cap2	UTSW	13	46531083	splice site	probably null
R6086:Cap2	UTSW	13	46635712	missense	probably damaging	1.00
R6728:Cap2	UTSW	13	46639859	missense	possibly damaging	0.87
R6842:Cap2	UTSW	13	46646625	missense	probably damaging	1.00
R7785:Cap2	UTSW	13	46635748	missense	probably benign
R7889:Cap2	UTSW	13	46646575	missense	probably damaging	0.99
R8065:Cap2	UTSW	13	46637861	missense	probably damaging	1.00
R8205:Cap2	UTSW	13	46615263	missense	probably damaging	1.00
R8425:Cap2	UTSW	13	46609732	missense	probably damaging	0.98
R8738:Cap2	UTSW	13	46531072	missense	probably benign	0.00
R9320:Cap2	UTSW	13	46615342	missense	probably benign	0.04
R9491:Cap2	UTSW	13	46637890	missense	possibly damaging	0.92
R9686:Cap2	UTSW	13	46525450	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGACACTTGCCCTGCAC -3'
(R):5'- CACCTCTCTAAGAATGCTAACATG -3'

Sequencing Primer
(F):5'- TTGCCCTGCACGTAGACACAG -3'
(R):5'- TACACCACAAAGCCTTTTCTGGG -3'

Posted On

2021-03-08