Mutagenetix > Incidental Mutation

Incidental Mutation 'R8232:Camta2'

652117

Institutional Source

Beutler Lab

Gene Symbol

Camta2

Ensembl Gene

ENSMUSG00000040712

Gene Name

calmodulin binding transcription activator 2

Synonyms

Kiaa0909-hp

MMRRC Submission

067664-MU

Accession Numbers

Essential gene?

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

Stock #

R8232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70560289-70578931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70573841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 171 (R171C)

Ref Sequence

ENSEMBL: ENSMUSP00000123602 (fasta)

Gene Model

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

AlphaFold

Q80Y50

Predicted Effect

silent
Transcript: ENSMUST00000036299

SMART Domains

Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712

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

silent
Transcript: ENSMUST00000100933

SMART Domains

Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712

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

silent
Transcript: ENSMUST00000108544

SMART Domains

Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712

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

silent
Transcript: ENSMUST00000108545

SMART Domains

Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712

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

silent
Transcript: ENSMUST00000119120

SMART Domains

Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712

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

silent
Transcript: ENSMUST00000120261

SMART Domains

Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712

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

unknown
Transcript: ENSMUST00000145823
AA Change: R171C

SMART Domains

Protein: ENSMUSP00000123602
Gene: ENSMUSG00000040712
AA Change: R171C

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

100% (34/34)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	T	4: 49,450,817 (GRCm39)	M98K	probably damaging	Het
Actn3	A	T	19: 4,921,683 (GRCm39)	W166R	probably damaging	Het
Adamts16	C	A	13: 70,941,217 (GRCm39)	C390F	probably damaging	Het
Arhgap32	A	T	9: 32,168,198 (GRCm39)	D727V	probably damaging	Het
Bcr	A	G	10: 75,001,883 (GRCm39)	Y929C	probably damaging	Het
Bmp1	T	A	14: 70,757,329 (GRCm39)	Y50F	probably damaging	Het
Ccnd2	A	G	6: 127,127,549 (GRCm39)	L63P	probably damaging	Het
Clip1	G	C	5: 123,785,981 (GRCm39)	D234E	probably benign	Het
Dnah9	A	T	11: 65,746,149 (GRCm39)	I3988N	possibly damaging	Het
Frmpd2	T	G	14: 33,261,724 (GRCm39)	I843S	probably damaging	Het
Gcgr	A	G	11: 120,427,328 (GRCm39)	Y146C	probably damaging	Het
Gm5930	T	G	14: 44,573,181 (GRCm39)	K158T	probably damaging	Het
Gnl1	T	A	17: 36,298,487 (GRCm39)	C410*	probably null	Het
Gtf2h1	T	A	7: 46,451,103 (GRCm39)	I4K	probably benign	Het
Il12b	A	G	11: 44,299,401 (GRCm39)	S157G	possibly damaging	Het
Jcad	G	T	18: 4,674,862 (GRCm39)	A875S	probably benign	Het
Kcnrg	T	A	14: 61,845,386 (GRCm39)	M142K	probably benign	Het
Krtap4-6	A	C	11: 99,556,568 (GRCm39)	L53R	unknown	Het
Myo10	G	A	15: 25,804,400 (GRCm39)	G1565D	possibly damaging	Het
Nf1	A	G	11: 79,469,157 (GRCm39)	S806G	probably damaging	Het
Nlrp5	G	T	7: 23,116,770 (GRCm39)	V165L	probably benign	Het
Nppa	T	C	4: 148,085,795 (GRCm39)	I134T	possibly damaging	Het
Or4a72	A	T	2: 89,405,938 (GRCm39)	V44E	noncoding transcript	Het
Or51ai2	G	A	7: 103,586,980 (GRCm39)	R131Q	possibly damaging	Het
Or5b107	A	G	19: 13,142,683 (GRCm39)	M102V	probably benign	Het
Or5p68	A	T	7: 107,945,495 (GRCm39)	M231K	probably damaging	Het
Or6c202	C	A	10: 128,996,097 (GRCm39)	C252F	probably damaging	Het
Scyl2	A	T	10: 89,498,309 (GRCm39)	F167I	probably damaging	Het
Smarcal1	T	C	1: 72,665,722 (GRCm39)	L740S	probably damaging	Het
Tmem183a	T	A	1: 134,277,918 (GRCm39)	D282V	probably damaging	Het
Trhde	A	T	10: 114,636,442 (GRCm39)	V255E	possibly damaging	Het
Vmn1r229	T	A	17: 21,035,309 (GRCm39)	C185S	probably damaging	Het
Vmn2r58	A	T	7: 41,514,076 (GRCm39)	M189K	probably damaging	Het
Vps50	T	G	6: 3,600,139 (GRCm39)	V866G	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
R6154:Camta2	UTSW	11	70,569,211 (GRCm39)	missense	probably damaging	1.00
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
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'- GCTTTGGGAAGTACCACACTC -3'
(R):5'- ACAGAGAAGTCAGCCAGATTTC -3'

Sequencing Primer
(F):5'- GGGAAGTACCACACTCTCTCTC -3'
(R):5'- CTTTGAGGAAAATGGGTTCTCAAAAG -3'

Posted On

2020-10-16