Mutagenetix > Incidental Mutation

Incidental Mutation 'R1207:Camsap3'

164805

Institutional Source

Beutler Lab

Gene Symbol

Camsap3

Ensembl Gene

ENSMUSG00000044433

Gene Name

calmodulin regulated spectrin-associated protein family, member 3

Synonyms

Nezha, 2310057J16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R1207 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

3637293-3659075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3654708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 782 (R782C)

Ref Sequence

ENSEMBL: ENSMUSP00000146852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057028] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207970] [ENSMUST00000207712] [ENSMUST00000208240]

AlphaFold

Q80VC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057028
AA Change: R766C

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

SMART Domains

Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: R766C

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
Pfam:CH	166	315	5.5e-27	PFAM
Pfam:CAMSAP_CH	214	296	1.2e-29	PFAM
low complexity region	359	373	N/A	INTRINSIC
coiled coil region	595	633	N/A	INTRINSIC
low complexity region	645	655	N/A	INTRINSIC
coiled coil region	696	727	N/A	INTRINSIC
low complexity region	749	779	N/A	INTRINSIC
low complexity region	828	837	N/A	INTRINSIC
low complexity region	866	881	N/A	INTRINSIC
coiled coil region	900	943	N/A	INTRINSIC
low complexity region	944	965	N/A	INTRINSIC
low complexity region	1002	1024	N/A	INTRINSIC
CAMSAP_CKK	1111	1240	1.29e-86	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163038

Predicted Effect

probably damaging
Transcript: ENSMUST00000171962
AA Change: R767C

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

SMART Domains

Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: R767C

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
Pfam:CAMSAP_CH	214	296	6e-31	PFAM
low complexity region	360	374	N/A	INTRINSIC
Pfam:CAMSAP_CC1	587	645	1.1e-27	PFAM
low complexity region	646	656	N/A	INTRINSIC
coiled coil region	697	728	N/A	INTRINSIC
low complexity region	750	780	N/A	INTRINSIC
low complexity region	829	838	N/A	INTRINSIC
low complexity region	867	882	N/A	INTRINSIC
coiled coil region	901	944	N/A	INTRINSIC
low complexity region	945	966	N/A	INTRINSIC
low complexity region	1003	1025	N/A	INTRINSIC
CAMSAP_CKK	1112	1241	1.29e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207077
AA Change: R782C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207152

Predicted Effect

probably damaging
Transcript: ENSMUST00000207432
AA Change: R793C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000207533

Predicted Effect

probably damaging
Transcript: ENSMUST00000207970
AA Change: R777C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208064

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

Meta Mutation Damage Score

0.3178

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display variable penetrance of vascular, liver, nervous system, rib and eye abnormalities. Mice homozygous for an allele with loss of microtubule binding show partial lethality, decreased body size and abnormal alignment of microtubles in polarized epithelial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Parp4	A	C	14: 56,885,339 (GRCm39)	I1473L	unknown	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Spmip8	G	T	8: 96,047,137 (GRCm39)	R94L	probably damaging	Het
Ttn	T	A	2: 76,587,404 (GRCm39)	K13236M	probably damaging	Het

Other mutations in Camsap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Camsap3	APN	8	3,652,077 (GRCm39)	missense	probably damaging	1.00
IGL00797:Camsap3	APN	8	3,652,115 (GRCm39)	splice site	probably benign
IGL01457:Camsap3	APN	8	3,654,795 (GRCm39)	missense	probably damaging	0.98
IGL01833:Camsap3	APN	8	3,658,508 (GRCm39)	missense	probably damaging	1.00
IGL02095:Camsap3	APN	8	3,653,845 (GRCm39)	missense	probably damaging	1.00
IGL02880:Camsap3	APN	8	3,653,913 (GRCm39)	missense	probably damaging	1.00
R0005:Camsap3	UTSW	8	3,654,288 (GRCm39)	missense	probably damaging	1.00
R0049:Camsap3	UTSW	8	3,648,772 (GRCm39)	missense	probably benign	0.11
R0049:Camsap3	UTSW	8	3,648,772 (GRCm39)	missense	probably benign	0.11
R0347:Camsap3	UTSW	8	3,652,029 (GRCm39)	missense	probably damaging	1.00
R0926:Camsap3	UTSW	8	3,637,960 (GRCm39)	critical splice donor site	probably null
R0946:Camsap3	UTSW	8	3,654,442 (GRCm39)	missense	probably benign	0.00
R1169:Camsap3	UTSW	8	3,653,866 (GRCm39)	missense	probably damaging	1.00
R1206:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1207:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1454:Camsap3	UTSW	8	3,653,968 (GRCm39)	missense	possibly damaging	0.58
R1475:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1581:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1618:Camsap3	UTSW	8	3,648,740 (GRCm39)	missense	probably benign	0.25
R1820:Camsap3	UTSW	8	3,653,485 (GRCm39)	missense	probably damaging	1.00
R1899:Camsap3	UTSW	8	3,653,922 (GRCm39)	nonsense	probably null
R1914:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1952:Camsap3	UTSW	8	3,654,789 (GRCm39)	missense	probably damaging	0.99
R2338:Camsap3	UTSW	8	3,656,808 (GRCm39)	missense	probably damaging	1.00
R3725:Camsap3	UTSW	8	3,653,785 (GRCm39)	missense	probably damaging	1.00
R3726:Camsap3	UTSW	8	3,653,785 (GRCm39)	missense	probably damaging	1.00
R4528:Camsap3	UTSW	8	3,656,515 (GRCm39)	missense	possibly damaging	0.79
R4652:Camsap3	UTSW	8	3,650,689 (GRCm39)	missense	possibly damaging	0.87
R5025:Camsap3	UTSW	8	3,654,244 (GRCm39)	missense	probably damaging	1.00
R5120:Camsap3	UTSW	8	3,650,680 (GRCm39)	missense	probably damaging	0.97
R5381:Camsap3	UTSW	8	3,653,812 (GRCm39)	missense	probably damaging	1.00
R5388:Camsap3	UTSW	8	3,654,276 (GRCm39)	missense	probably damaging	1.00
R5829:Camsap3	UTSW	8	3,647,899 (GRCm39)	missense	probably damaging	1.00
R5846:Camsap3	UTSW	8	3,653,980 (GRCm39)	missense	probably damaging	1.00
R5935:Camsap3	UTSW	8	3,651,999 (GRCm39)	missense	probably damaging	1.00
R6363:Camsap3	UTSW	8	3,651,971 (GRCm39)	missense	probably damaging	1.00
R6469:Camsap3	UTSW	8	3,653,941 (GRCm39)	missense	possibly damaging	0.79
R6595:Camsap3	UTSW	8	3,658,742 (GRCm39)	missense	probably damaging	1.00
R6595:Camsap3	UTSW	8	3,654,186 (GRCm39)	missense	probably damaging	1.00
R7024:Camsap3	UTSW	8	3,658,242 (GRCm39)	missense	probably damaging	0.98
R7062:Camsap3	UTSW	8	3,657,834 (GRCm39)	unclassified	probably benign
R7109:Camsap3	UTSW	8	3,648,087 (GRCm39)	missense	possibly damaging	0.53
R7233:Camsap3	UTSW	8	3,650,371 (GRCm39)	missense	probably damaging	0.99
R7236:Camsap3	UTSW	8	3,654,116 (GRCm39)	missense	probably damaging	1.00
R7316:Camsap3	UTSW	8	3,654,648 (GRCm39)	missense	possibly damaging	0.51
R7340:Camsap3	UTSW	8	3,637,960 (GRCm39)	critical splice donor site	probably null
R7512:Camsap3	UTSW	8	3,648,740 (GRCm39)	missense	probably benign	0.25
R7779:Camsap3	UTSW	8	3,647,887 (GRCm39)	missense	probably damaging	1.00
R8134:Camsap3	UTSW	8	3,648,075 (GRCm39)	missense	probably benign	0.00
R8356:Camsap3	UTSW	8	3,650,679 (GRCm39)	nonsense	probably null
R8456:Camsap3	UTSW	8	3,650,679 (GRCm39)	nonsense	probably null
R8696:Camsap3	UTSW	8	3,653,614 (GRCm39)	missense	probably damaging	1.00
R8804:Camsap3	UTSW	8	3,652,624 (GRCm39)	missense	probably benign	0.14
R9022:Camsap3	UTSW	8	3,656,575 (GRCm39)	missense	probably benign	0.08
R9380:Camsap3	UTSW	8	3,653,999 (GRCm39)	missense	probably benign	0.09
R9706:Camsap3	UTSW	8	3,658,689 (GRCm39)	missense	possibly damaging	0.92
Z1192:Camsap3	UTSW	8	3,654,124 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGCACAAGTCAGTTACCTTCTCTC -3'
(R):5'- ATCTCCTTCCTCATCAGCAGCAGG -3'

Sequencing Primer
(F):5'- CAGTCAGTAAGCTGAGTGCC -3'
(R):5'- CCCTCCGACAGGAGGATAGAG -3'

Posted On

2014-03-28