Mutagenetix > Incidental Mutation

Incidental Mutation 'R8425:Cap2'

653439

Institutional Source

Beutler Lab

Gene Symbol

Cap2

Ensembl Gene

ENSMUSG00000021373

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46501848-46650281 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46609732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 146 (I146K)

Ref Sequence

ENSEMBL: ENSMUSP00000021802 (fasta)

Gene Model

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

AlphaFold

Q9CYT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021802
AA Change: I146K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021802
Gene: ENSMUSG00000021373
AA Change: I146K

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

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 damaging
Transcript: ENSMUST00000225824
AA Change: I91K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,347,786	E92G	possibly damaging	Het
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Aasdh	A	T	5: 76,886,277	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,314,623	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,585,377	T788I	probably damaging	Het
Adgrb2	A	G	4: 130,005,057	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,008,407	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,593,654	L257Q	probably benign	Het
Agpat3	A	T	10: 78,282,377	V255E	possibly damaging	Het
Akap6	A	G	12: 52,886,621	I299V	probably benign	Het
Anapc1	A	T	2: 128,669,868	F468L	probably damaging	Het
Apob	T	A	12: 7,988,842	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,628,869	D232E	probably benign	Het
AW209491	A	G	13: 14,637,336	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316	P261L	probably benign	Het
Catsperb	A	T	12: 101,602,769	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,281,536	V310D	probably damaging	Het
Cenpe	G	T	3: 135,242,627	G1275*	probably null	Het
Chd8	C	T	14: 52,210,555	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,945,957	Y67F	unknown	Het
Cuzd1	G	T	7: 131,317,991	T132K	possibly damaging	Het
Ddr2	T	A	1: 170,036,016		probably benign	Het
Ddx42	T	C	11: 106,247,724	I783T	probably benign	Het
Dennd4a	T	A	9: 64,838,974	D47E	probably damaging	Het
Dirc2	A	T	16: 35,735,597	N164K	probably benign	Het
Dvl2	T	G	11: 70,007,847	W379G	probably damaging	Het
Ehbp1	A	G	11: 22,013,495	L1160P	probably damaging	Het
Eml6	A	G	11: 29,755,008	V1512A	probably benign	Het
Ephb6	T	C	6: 41,618,646	S780P	probably damaging	Het
Exo5	G	A	4: 120,922,363	L102F	probably benign	Het
Fam220a	A	T	5: 143,562,839	K2M	possibly damaging	Het
Fanci	A	T	7: 79,433,541	I731L	probably benign	Het
Gbp8	A	G	5: 105,017,774	S338P	probably damaging	Het
H2-M11	T	C	17: 36,548,757	I214T	probably benign	Het
Hhatl	C	A	9: 121,789,102	A196S	probably benign	Het
Hspg2	C	A	4: 137,550,867	C2988*	probably null	Het
Ifi213	A	G	1: 173,589,860	S329P	probably benign	Het
Lingo3	G	T	10: 80,834,982	F371L	probably benign	Het
Maml2	C	T	9: 13,620,117	T209I		Het
Ndufaf3	T	C	9: 108,566,983		probably benign	Het
Nfatc2	C	T	2: 168,536,296	G483E	probably damaging	Het
Npy6r	A	C	18: 44,276,003	T164P	probably benign	Het
Olfr117	T	A	17: 37,660,084	N83I	probably damaging	Het
Olfr1221	T	A	2: 89,112,393	N40Y	probably damaging	Het
Olfr132	T	C	17: 38,131,036	D52G	possibly damaging	Het
Olfr1502	T	C	19: 13,862,485	S231P	probably benign	Het
Olfr173	A	G	16: 58,797,603	M81T	probably benign	Het
Olfr659	A	G	7: 104,671,295	N198D	probably damaging	Het
Omg	T	C	11: 79,502,000	E344G	possibly damaging	Het
P2rx7	A	G	5: 122,670,458	E301G	probably damaging	Het
Pkhd1l1	T	C	15: 44,574,515	S3569P	probably benign	Het
Pkn3	G	A	2: 30,086,501		probably null	Het
Proc	C	T	18: 32,123,358	V419M	probably damaging	Het
Prss37	C	T	6: 40,516,118	W138*	probably null	Het
Prss52	T	A	14: 64,112,560	L212*	probably null	Het
Rnps1	A	G	17: 24,418,169	K8E	unknown	Het
Rpf2	A	T	10: 40,225,433	L202*	probably null	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Serpinb5	T	A	1: 106,881,785	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,468,645	S368P	possibly damaging	Het
Slfn8	T	A	11: 83,004,615	Q455L	possibly damaging	Het
Sv2b	A	G	7: 75,117,599	M683T	probably damaging	Het
Tacc3	G	T	5: 33,664,530	L211F	unknown	Het
Tbc1d8	A	G	1: 39,381,409	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,138,851	E493G	unknown	Het
Th	A	T	7: 142,894,086	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,564,357	V115G		Het
Usp40	G	A	1: 87,959,836	R915C	probably benign	Het
Wdr81	T	A	11: 75,451,522	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,314,444	S42P	probably benign	Het
Zfp369	T	A	13: 65,296,675	I544N	possibly damaging	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
R8731:Cap2	UTSW	13	46646530	missense	probably benign	0.00
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'- GCACGTGTTCCTTTCAGACC -3'
(R):5'- CCGACTCAGAGTAGAAAGCATG -3'

Sequencing Primer
(F):5'- AGAGGCTTCTGTCTGCTCACAG -3'
(R):5'- GCATGGGGCTTACACAGG -3'

Posted On

2020-10-20