Mutagenetix > Incidental Mutation

Incidental Mutation 'R6154:Camta2'

489464

Institutional Source

Beutler Lab

Gene Symbol

Camta2

Ensembl Gene

ENSMUSG00000040712

Gene Name

calmodulin binding transcription activator 2

Synonyms

Kiaa0909-hp

MMRRC Submission

044301-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

R6154 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

70560289-70578931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70569211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 578 (A578V)

Ref Sequence

ENSEMBL: ENSMUSP00000113667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036299] [ENSMUST00000100933] [ENSMUST00000108544] [ENSMUST00000108545] [ENSMUST00000119120] [ENSMUST00000120261] [ENSMUST00000145823]

AlphaFold

Q80Y50

Predicted Effect

probably damaging
Transcript: ENSMUST00000036299
AA Change: A607V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712
AA Change: A607V

Domain	Start	End	E-Value	Type
CG-1	34	155	1.07e-83	SMART
low complexity region	232	243	N/A	INTRINSIC
low complexity region	273	291	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
low complexity region	314	329	N/A	INTRINSIC
low complexity region	370	380	N/A	INTRINSIC
low complexity region	417	435	N/A	INTRINSIC
low complexity region	461	485	N/A	INTRINSIC
low complexity region	501	514	N/A	INTRINSIC
Pfam:TIG	541	621	6.2e-13	PFAM
low complexity region	660	679	N/A	INTRINSIC
Blast:ANK	717	750	7e-12	BLAST
SCOP:d1myo__	718	816	2e-15	SMART
Blast:ANK	762	792	4e-11	BLAST
low complexity region	829	839	N/A	INTRINSIC
low complexity region	844	853	N/A	INTRINSIC
low complexity region	861	882	N/A	INTRINSIC
IQ	1053	1075	2.59e2	SMART
IQ	1076	1092	2.38e2	SMART
IQ	1106	1128	5.42e0	SMART
low complexity region	1140	1157	N/A	INTRINSIC
low complexity region	1180	1190	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100933
AA Change: A604V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712
AA Change: A604V

Domain	Start	End	E-Value	Type
CG-1	36	152	8.08e-88	SMART
low complexity region	229	240	N/A	INTRINSIC
low complexity region	270	288	N/A	INTRINSIC
low complexity region	291	302	N/A	INTRINSIC
low complexity region	311	326	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
low complexity region	414	432	N/A	INTRINSIC
low complexity region	458	482	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
Pfam:TIG	538	618	1.2e-8	PFAM
low complexity region	657	676	N/A	INTRINSIC
Blast:ANK	714	747	8e-12	BLAST
SCOP:d1myo__	715	813	2e-15	SMART
Blast:ANK	759	789	4e-11	BLAST
low complexity region	826	836	N/A	INTRINSIC
low complexity region	841	850	N/A	INTRINSIC
low complexity region	858	879	N/A	INTRINSIC
IQ	1050	1072	2.59e2	SMART
IQ	1073	1095	1.18e1	SMART
IQ	1096	1118	5.42e0	SMART
low complexity region	1130	1147	N/A	INTRINSIC
low complexity region	1170	1180	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108544
AA Change: A602V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712
AA Change: A602V

Domain	Start	End	E-Value	Type
CG-1	34	150	8.08e-88	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	268	286	N/A	INTRINSIC
low complexity region	289	300	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	456	480	N/A	INTRINSIC
low complexity region	496	509	N/A	INTRINSIC
Pfam:TIG	536	616	1.2e-8	PFAM
low complexity region	655	674	N/A	INTRINSIC
Blast:ANK	712	745	7e-12	BLAST
SCOP:d1myo__	713	811	2e-15	SMART
Blast:ANK	757	787	4e-11	BLAST
low complexity region	824	834	N/A	INTRINSIC
low complexity region	839	848	N/A	INTRINSIC
low complexity region	856	877	N/A	INTRINSIC
IQ	1048	1070	2.59e2	SMART
IQ	1071	1087	2.38e2	SMART
IQ	1101	1123	5.42e0	SMART
low complexity region	1135	1152	N/A	INTRINSIC
low complexity region	1175	1185	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108545
AA Change: A578V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712
AA Change: A578V

Domain	Start	End	E-Value	Type
CG-1	34	126	3.23e-55	SMART
low complexity region	203	214	N/A	INTRINSIC
low complexity region	244	262	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	285	300	N/A	INTRINSIC
low complexity region	341	351	N/A	INTRINSIC
low complexity region	388	406	N/A	INTRINSIC
low complexity region	432	456	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
Pfam:TIG	512	592	1.1e-8	PFAM
low complexity region	631	650	N/A	INTRINSIC
Blast:ANK	688	721	7e-12	BLAST
SCOP:d1myo__	689	787	2e-15	SMART
Blast:ANK	733	763	5e-13	BLAST
low complexity region	800	810	N/A	INTRINSIC
low complexity region	815	824	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC
IQ	1024	1046	2.59e2	SMART
IQ	1047	1069	1.18e1	SMART
IQ	1070	1092	5.42e0	SMART
low complexity region	1104	1121	N/A	INTRINSIC
low complexity region	1144	1154	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119120
AA Change: A602V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712
AA Change: A602V

Domain	Start	End	E-Value	Type
CG-1	34	150	8.08e-88	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	268	286	N/A	INTRINSIC
low complexity region	289	300	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	456	480	N/A	INTRINSIC
low complexity region	496	509	N/A	INTRINSIC
Pfam:TIG	536	616	1.1e-8	PFAM
low complexity region	655	674	N/A	INTRINSIC
Blast:ANK	712	745	7e-12	BLAST
SCOP:d1myo__	713	811	2e-15	SMART
Blast:ANK	757	787	8e-13	BLAST
low complexity region	824	834	N/A	INTRINSIC
low complexity region	839	848	N/A	INTRINSIC
low complexity region	856	877	N/A	INTRINSIC
IQ	1048	1070	2.59e2	SMART
IQ	1071	1093	1.18e1	SMART
IQ	1094	1116	5.42e0	SMART
low complexity region	1128	1145	N/A	INTRINSIC
low complexity region	1168	1178	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120261
AA Change: A578V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712
AA Change: A578V

Domain	Start	End	E-Value	Type
CG-1	34	126	3.23e-55	SMART
low complexity region	203	214	N/A	INTRINSIC
low complexity region	244	262	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	285	300	N/A	INTRINSIC
low complexity region	341	351	N/A	INTRINSIC
low complexity region	388	406	N/A	INTRINSIC
low complexity region	432	456	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
Pfam:TIG	512	592	1e-8	PFAM
low complexity region	631	650	N/A	INTRINSIC
Blast:ANK	688	721	7e-12	BLAST
SCOP:d1myo__	689	787	2e-15	SMART
Blast:ANK	733	763	7e-13	BLAST
low complexity region	800	810	N/A	INTRINSIC
low complexity region	815	824	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC
IQ	1024	1046	2.59e2	SMART
IQ	1047	1063	2.38e2	SMART
IQ	1077	1099	5.42e0	SMART
low complexity region	1111	1128	N/A	INTRINSIC
low complexity region	1151	1161	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125687

Predicted Effect

probably benign
Transcript: ENSMUST00000145823

SMART Domains

Protein: ENSMUSP00000123602
Gene: ENSMUSG00000040712

Domain	Start	End	E-Value	Type
CG-1	34	137	2.55e-44	SMART
low complexity region	146	165	N/A	INTRINSIC

Meta Mutation Damage Score

0.4017

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and free of obvious cardiac defects, but show reduced pathophysiologic cardiac hypertrophy in response to diverse stress stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 106,959,210 (GRCm39)	I79L	probably benign	Het
Adam6a	C	T	12: 113,509,292 (GRCm39)	T555I	probably benign	Het
Adap1	A	G	5: 139,293,531 (GRCm39)	V60A	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Angpt1	T	C	15: 42,387,051 (GRCm39)	E101G	probably damaging	Het
Asxl2	T	C	12: 3,546,593 (GRCm39)	V459A	possibly damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Cdc16	A	G	8: 13,818,609 (GRCm39)	N316D	possibly damaging	Het
Chrm3	T	A	13: 9,928,476 (GRCm39)	M187L	possibly damaging	Het
Clcn4	T	C	7: 7,294,481 (GRCm39)	T367A	probably benign	Het
Clcn7	T	C	17: 25,376,928 (GRCm39)	S654P	probably damaging	Het
Col6a3	T	A	1: 90,701,387 (GRCm39)	T2510S	unknown	Het
Crisp4	T	C	1: 18,193,012 (GRCm39)	E192G	possibly damaging	Het
Dmbt1	T	A	7: 130,711,370 (GRCm39)		probably null	Het
Dnah5	T	G	15: 28,204,177 (GRCm39)	L18R	probably benign	Het
Dnah9	T	G	11: 65,746,164 (GRCm39)	D3983A	probably benign	Het
Dock5	C	A	14: 68,097,361 (GRCm39)	V71L	probably benign	Het
Dync1h1	T	C	12: 110,584,427 (GRCm39)	V610A	probably damaging	Het
Dynlrb2	A	G	8: 117,242,428 (GRCm39)	Y86C	probably benign	Het
Ep400	T	C	5: 110,903,799 (GRCm39)	I267V	probably damaging	Het
Gaa	A	G	11: 119,169,178 (GRCm39)	Y575C	probably damaging	Het
Gm8094	T	A	14: 42,934,020 (GRCm39)	D24V	probably benign	Het
Grina	T	C	15: 76,133,087 (GRCm39)	I244T	possibly damaging	Het
Haus6	A	G	4: 86,501,993 (GRCm39)	L626P	possibly damaging	Het
Hexd	A	T	11: 121,112,097 (GRCm39)	H439L	probably benign	Het
Ifna12	A	T	4: 88,521,531 (GRCm39)	C5*	probably null	Het
Igf2bp2	G	T	16: 21,894,843 (GRCm39)	S300*	probably null	Het
Ighv6-5	T	C	12: 114,380,362 (GRCm39)	R71G	probably benign	Het
Lrrc37	A	G	11: 103,504,969 (GRCm39)	V2333A	probably benign	Het
Lrrn4cl	T	C	19: 8,829,252 (GRCm39)	S77P	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mink1	T	C	11: 70,500,927 (GRCm39)	V831A	possibly damaging	Het
Mme	T	A	3: 63,207,674 (GRCm39)	I40N	probably damaging	Het
Myh2	A	G	11: 67,077,438 (GRCm39)	T858A	probably benign	Het
Ncbp3	T	A	11: 72,940,700 (GRCm39)	Y67N	probably damaging	Het
Nedd1	T	A	10: 92,534,104 (GRCm39)	I349F	possibly damaging	Het
Nek11	A	T	9: 105,200,368 (GRCm39)	*81K	probably null	Het
Nrip1	A	G	16: 76,090,718 (GRCm39)	Y280H	probably damaging	Het
Obsl1	T	C	1: 75,476,788 (GRCm39)	D722G	probably benign	Het
Or10ag55-ps1	T	G	2: 87,139,902 (GRCm39)	S256R	probably benign	Het
Or2m12	A	T	16: 19,105,181 (GRCm39)	I104K	probably damaging	Het
Or4c29	A	G	2: 88,740,734 (GRCm39)	M1T	probably null	Het
Or5i1	A	G	2: 87,613,100 (GRCm39)	D72G	possibly damaging	Het
Or6c7	C	T	10: 129,323,545 (GRCm39)	T222I	probably damaging	Het
Pcdhb6	A	G	18: 37,467,966 (GRCm39)	I296V	probably benign	Het
Pcnx2	G	T	8: 126,489,552 (GRCm39)	L1681M	probably damaging	Het
Pdlim5	T	C	3: 141,983,674 (GRCm39)	R360G	possibly damaging	Het
Peli2	C	T	14: 48,488,051 (GRCm39)	Q81*	probably null	Het
Pitpnb	C	T	5: 111,486,263 (GRCm39)	Q56*	probably null	Het
Ppp1r3a	A	G	6: 14,754,603 (GRCm39)	S215P	possibly damaging	Het
Prrt3	A	G	6: 113,471,989 (GRCm39)	Y728H	probably damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,516,542 (GRCm39)	H1277R	possibly damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Sirt6	C	T	10: 81,462,339 (GRCm39)	G20D	probably damaging	Het
Sit1	C	A	4: 43,482,981 (GRCm39)	R89S	probably benign	Het
Slc7a12	A	G	3: 14,546,094 (GRCm39)	R80G	probably damaging	Het
Smok3c	T	A	5: 138,062,747 (GRCm39)	M78K	probably benign	Het
Stk10	T	A	11: 32,553,654 (GRCm39)		probably null	Het
Tada2b	A	G	5: 36,634,008 (GRCm39)	V190A	probably damaging	Het
Tnk1	C	T	11: 69,747,780 (GRCm39)	V41I	probably damaging	Het
Tpr	T	A	1: 150,299,567 (GRCm39)	V1146E	probably benign	Het
Trappc9	T	C	15: 72,929,930 (GRCm39)	D142G	probably benign	Het
Trpm3	T	C	19: 22,965,178 (GRCm39)	Y1558H	probably damaging	Het
Unc5c	C	A	3: 141,383,914 (GRCm39)	S97R	probably damaging	Het
Vmn1r172	T	C	7: 23,359,583 (GRCm39)	I156T	probably damaging	Het
Vmn2r51	A	T	7: 9,821,921 (GRCm39)	M588K	possibly damaging	Het
Vps26a	T	G	10: 62,304,119 (GRCm39)	E117D	probably damaging	Het
Zfp451	A	T	1: 33,842,627 (GRCm39)		probably benign	Het
Zfp534	C	A	4: 147,759,145 (GRCm39)	R508I	probably benign	Het
Zp3r	C	T	1: 130,526,642 (GRCm39)	C187Y	probably damaging	Het

Other mutations in Camta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Camta2	APN	11	70,562,308 (GRCm39)	nonsense	probably null
IGL01472:Camta2	APN	11	70,574,950 (GRCm39)	missense	probably damaging	1.00
IGL02548:Camta2	APN	11	70,561,511 (GRCm39)	missense	probably damaging	1.00
IGL02794:Camta2	APN	11	70,566,484 (GRCm39)	missense	possibly damaging	0.94
IGL02983:Camta2	APN	11	70,562,848 (GRCm39)	missense	probably damaging	0.99
IGL03035:Camta2	APN	11	70,562,335 (GRCm39)	nonsense	probably null
weeping	UTSW	11	70,574,134 (GRCm39)	missense	probably damaging	1.00
Willow	UTSW	11	70,569,151 (GRCm39)	missense	probably damaging	1.00
P0027:Camta2	UTSW	11	70,574,831 (GRCm39)	missense	probably damaging	1.00
R0360:Camta2	UTSW	11	70,574,136 (GRCm39)	missense	probably damaging	1.00
R0364:Camta2	UTSW	11	70,574,136 (GRCm39)	missense	probably damaging	1.00
R0541:Camta2	UTSW	11	70,572,447 (GRCm39)	missense	probably benign	0.01
R0600:Camta2	UTSW	11	70,564,785 (GRCm39)	missense	possibly damaging	0.94
R0630:Camta2	UTSW	11	70,569,131 (GRCm39)	missense	probably damaging	1.00
R1301:Camta2	UTSW	11	70,567,230 (GRCm39)	missense	probably benign	0.18
R1346:Camta2	UTSW	11	70,567,293 (GRCm39)	missense	possibly damaging	0.89
R1826:Camta2	UTSW	11	70,574,134 (GRCm39)	missense	probably damaging	1.00
R1881:Camta2	UTSW	11	70,562,842 (GRCm39)	missense	probably benign	0.00
R1980:Camta2	UTSW	11	70,573,308 (GRCm39)	missense	probably benign	0.43
R2144:Camta2	UTSW	11	70,562,401 (GRCm39)	missense	probably benign	0.31
R2145:Camta2	UTSW	11	70,562,401 (GRCm39)	missense	probably benign	0.31
R2763:Camta2	UTSW	11	70,573,356 (GRCm39)	nonsense	probably null
R2881:Camta2	UTSW	11	70,570,490 (GRCm39)	splice site	probably null
R2917:Camta2	UTSW	11	70,571,787 (GRCm39)	missense	probably damaging	1.00
R4115:Camta2	UTSW	11	70,567,300 (GRCm39)	missense	possibly damaging	0.93
R4321:Camta2	UTSW	11	70,569,151 (GRCm39)	missense	probably damaging	1.00
R4470:Camta2	UTSW	11	70,571,766 (GRCm39)	missense	probably damaging	1.00
R4499:Camta2	UTSW	11	70,565,512 (GRCm39)	missense	probably damaging	1.00
R4509:Camta2	UTSW	11	70,571,844 (GRCm39)	missense	probably benign	0.28
R6166:Camta2	UTSW	11	70,565,087 (GRCm39)	splice site	probably null
R6287:Camta2	UTSW	11	70,572,295 (GRCm39)	missense	probably damaging	0.98
R6382:Camta2	UTSW	11	70,562,867 (GRCm39)	missense	probably damaging	0.99
R6864:Camta2	UTSW	11	70,562,792 (GRCm39)	missense	probably benign	0.00
R6922:Camta2	UTSW	11	70,564,964 (GRCm39)	missense	probably benign	0.04
R7438:Camta2	UTSW	11	70,574,714 (GRCm39)	critical splice donor site	probably null
R7611:Camta2	UTSW	11	70,572,372 (GRCm39)	missense	possibly damaging	0.85
R7883:Camta2	UTSW	11	70,566,037 (GRCm39)	missense	probably damaging	1.00
R8094:Camta2	UTSW	11	70,576,903 (GRCm39)	missense	probably damaging	1.00
R8232:Camta2	UTSW	11	70,573,841 (GRCm39)	missense	unknown
R8271:Camta2	UTSW	11	70,561,886 (GRCm39)	missense	probably benign	0.05
R8973:Camta2	UTSW	11	70,561,184 (GRCm39)	missense	probably benign	0.05
R9072:Camta2	UTSW	11	70,567,234 (GRCm39)	missense	probably benign	0.21
T0722:Camta2	UTSW	11	70,574,831 (GRCm39)	missense	probably damaging	1.00
X0066:Camta2	UTSW	11	70,572,504 (GRCm39)	missense	probably benign	0.08
Z1177:Camta2	UTSW	11	70,566,047 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTAGTGCACATTCCCAC -3'
(R):5'- TGCAAATGCTACATACTGAAGC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TGCTACATACTGAAGCTACTGC -3'

Posted On

2017-10-10