Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Camta2'

88320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camta2

Ensembl Gene

ENSMUSG00000040712

Gene Name

calmodulin binding transcription activator 2

Synonyms

Kiaa0909-hp

Accession Numbers

Essential gene?

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

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

70560289-70578931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70574950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 62 (S62P)

Ref Sequence

ENSEMBL: ENSMUSP00000104185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036299] [ENSMUST00000073625] [ENSMUST00000100933] [ENSMUST00000108541] [ENSMUST00000108542] [ENSMUST00000108543] [ENSMUST00000108544] [ENSMUST00000119120] [ENSMUST00000108545] [ENSMUST00000145823] [ENSMUST00000120261] [ENSMUST00000126114]

AlphaFold

Q80Y50

Predicted Effect

probably damaging
Transcript: ENSMUST00000036299
AA Change: S62P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712
AA Change: S62P

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 benign
Transcript: ENSMUST00000073625

SMART Domains

Protein: ENSMUSP00000073311
Gene: ENSMUSG00000057054

Domain	Start	End	E-Value	Type
Pfam:INCA1	12	187	7.7e-94	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100933
AA Change: S64P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712
AA Change: S64P

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 benign
Transcript: ENSMUST00000108541

SMART Domains

Protein: ENSMUSP00000104181
Gene: ENSMUSG00000057054

Domain	Start	End	E-Value	Type
Pfam:INCA1	12	187	7.7e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108542

SMART Domains

Protein: ENSMUSP00000104182
Gene: ENSMUSG00000057054

Domain	Start	End	E-Value	Type
Pfam:INCA1	12	187	7.7e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108543

SMART Domains

Protein: ENSMUSP00000104183
Gene: ENSMUSG00000057054

Domain	Start	End	E-Value	Type
Pfam:INCA1	1	152	1.5e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108544
AA Change: S62P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712
AA Change: S62P

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: ENSMUST00000119120
AA Change: S62P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712
AA Change: S62P

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: ENSMUST00000108545
AA Change: S62P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712
AA Change: S62P

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: ENSMUST00000145823
AA Change: S62P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123602
Gene: ENSMUSG00000040712
AA Change: S62P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120261
AA Change: S62P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712
AA Change: S62P

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: ENSMUST00000150224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125687

Predicted Effect

probably benign
Transcript: ENSMUST00000126114

SMART Domains

Protein: ENSMUSP00000118761
Gene: ENSMUSG00000057054

Domain	Start	End	E-Value	Type
Pfam:INCA1	12	187	8.4e-91	PFAM

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Bzw2	T	C	12: 36,159,795 (GRCm39)	D185G	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	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
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
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

Posted On

2013-11-18