Mutagenetix > Incidental Mutation

Incidental Mutation 'R4321:Camta2'

323839

Institutional Source

Beutler Lab

Gene Symbol

Camta2

Ensembl Gene

ENSMUSG00000040712

Gene Name

calmodulin binding transcription activator 2

Synonyms

Kiaa0909-hp

MMRRC Submission

041662-MU

Accession Numbers

Essential gene?

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

Stock #

R4321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70560289-70578931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70569151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 598 (L598Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104185 (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: L627Q

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

SMART Domains

Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712
AA Change: L627Q

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: L624Q

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

SMART Domains

Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712
AA Change: L624Q

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: L622Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712
AA Change: L622Q

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: L598Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712
AA Change: L598Q

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: L622Q

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

SMART Domains

Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712
AA Change: L622Q

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: L598Q

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

SMART Domains

Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712
AA Change: L598Q

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

0.4039

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (56/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,887 (GRCm39)	D420V	probably damaging	Het
Als2	A	C	1: 59,206,613 (GRCm39)		probably benign	Het
Ankrd9	A	G	12: 110,943,074 (GRCm39)	L287P	probably damaging	Het
Aoc1l1	T	A	6: 48,953,456 (GRCm39)	D460E	probably damaging	Het
Bbof1	A	T	12: 84,473,902 (GRCm39)	R411*	probably null	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Cep85	G	A	4: 133,859,596 (GRCm39)	T689I	probably damaging	Het
Clvs1	T	C	4: 9,282,029 (GRCm39)		probably benign	Het
Cpped1	T	C	16: 11,705,610 (GRCm39)	T65A	probably benign	Het
Daxx	T	C	17: 34,130,380 (GRCm39)	Y132H	possibly damaging	Het
Dock7	T	C	4: 98,960,691 (GRCm39)	E279G	probably damaging	Het
Dok7	A	T	5: 35,237,141 (GRCm39)		probably benign	Het
Dthd1	A	T	5: 62,976,033 (GRCm39)	I236F	probably damaging	Het
Egf	A	G	3: 129,499,783 (GRCm39)	C285R	probably damaging	Het
Epha4	T	A	1: 77,483,850 (GRCm39)		probably null	Het
Fbxw13	A	C	9: 109,010,503 (GRCm39)	I378M	probably benign	Het
Gaa	A	T	11: 119,160,963 (GRCm39)	N2I	probably benign	Het
Gad1	G	A	2: 70,420,174 (GRCm39)	D353N	probably damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
Gm2663	G	T	6: 40,974,530 (GRCm39)	Q87K	probably damaging	Het
Golga4	A	G	9: 118,385,503 (GRCm39)	E847G	probably damaging	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Ibtk	T	C	9: 85,617,125 (GRCm39)	D149G	possibly damaging	Het
Ice1	A	T	13: 70,751,229 (GRCm39)	V1619E	possibly damaging	Het
Itpr3	A	G	17: 27,330,948 (GRCm39)	E1752G	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kprp	G	A	3: 92,732,163 (GRCm39)	R296W	probably damaging	Het
Lama1	G	A	17: 68,078,078 (GRCm39)	G1171D	probably benign	Het
Lonp2	A	G	8: 87,392,356 (GRCm39)	H474R	probably damaging	Het
Mark1	G	T	1: 184,630,871 (GRCm39)	D746E	possibly damaging	Het
Mlxipl	C	T	5: 135,164,304 (GRCm39)	Q167*	probably null	Het
Myo3a	A	T	2: 22,271,966 (GRCm39)	N162Y	probably damaging	Het
Myo5a	T	G	9: 75,124,812 (GRCm39)	V1787G	probably damaging	Het
Myorg	C	T	4: 41,498,767 (GRCm39)	V288I	probably benign	Het
Nrxn3	A	T	12: 90,166,005 (GRCm39)	E227V	probably damaging	Het
Orc1	G	A	4: 108,445,973 (GRCm39)	M30I	probably benign	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Rufy2	A	G	10: 62,818,459 (GRCm39)	D5G	probably damaging	Het
Rufy4	A	T	1: 74,171,943 (GRCm39)	D222V	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Septin1	G	A	7: 126,816,200 (GRCm39)	P77S	probably damaging	Het
Slamf1	T	C	1: 171,602,694 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,679,429 (GRCm39)	I636K	possibly damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Txnl1	T	C	18: 63,812,561 (GRCm39)	T78A	possibly damaging	Het
Ulk4	T	G	9: 120,903,062 (GRCm39)	R1138S	probably benign	Het
Vamp8	A	C	6: 72,362,536 (GRCm39)	V88G	possibly damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Zfp850	A	C	7: 27,688,825 (GRCm39)	F461C	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
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

Predicted Primers

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

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

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R43210045_PCR_F: 5’- TGCTAGTGCACATTCCCAC-3’

R43210045_PCR_R: 5’- GACGTGTGAAATAACCATCACTG-3’

Sequencing Primers

R43210045_SEQ_F: 5’- TGGAACTCACTCTGTAGACCAGG-3’ 

R43210045_SEQ_R: 5’- CTGGCTCTAATATAACTAATGGGCCG-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 647 nucleotides is amplified (NCBI RefSeq: NC_000077, chromosome 11:70677864-70678510):

tgctagtgca cattcccact tttgtttgtt tttctgtaat ttctaacagt cctataatga

aaacatcctt atcatccaaa agaaaaacat aaaaataagt agcctatagg tttttttttt

agtatttttc ttttcttttt tctttttttt ctttttttta atttttttgg tttttcgaga

cagggtttct ctgtgtagcc ttggctgtcc tggaactcac tctgtagacc aggctgacct

cgaactcaga aatccacctt cctctgcctc ccaagtgctg ggattaaagt cgagagccat

cactgcctgg ctaattttta ttttatatgc atgggagttc tgcctgcatg tatgactgtg

caccactctt atgcaaacat gtcatgccta agaccttggg tcaaagggct cagtactcac

catccagtga caaccagtcg agctgtgtac taggcagaga caggaaccgg cgggctcgat

actcaaagag cacagaggca gagagggggc cctctcgccc cgccacctgc aaagacacca

gccctacctc atgggctggg gagagcaggt caggagaagg ctcattcccc agctcctttc

ccggcccatt agttatatta gagccagtga tggttatttc acacgtc

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + = A>T)

Posted On

2015-06-24