Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Camsap2'

412570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camsap2

Ensembl Gene

ENSMUSG00000041570

Gene Name

calmodulin regulated spectrin-associated protein family, member 2

Synonyms

1600013L13Rik, Camsap1l1, 4930541M15Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.758) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

136268123-136346104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136281662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 697 (D697E)

Ref Sequence

ENSEMBL: ENSMUSP00000142299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048309] [ENSMUST00000192001] [ENSMUST00000192314]

AlphaFold

Q8C1B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048309
AA Change: D703E

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: D703E

Domain	Start	End	E-Value	Type
Pfam:CAMSAP_CH	239	322	3.6e-37	PFAM
low complexity region	379	388	N/A	INTRINSIC
low complexity region	397	410	N/A	INTRINSIC
low complexity region	483	491	N/A	INTRINSIC
low complexity region	671	690	N/A	INTRINSIC
low complexity region	706	711	N/A	INTRINSIC
Pfam:CAMSAP_CC1	738	795	7.3e-28	PFAM
coiled coil region	878	916	N/A	INTRINSIC
low complexity region	922	929	N/A	INTRINSIC
low complexity region	943	956	N/A	INTRINSIC
low complexity region	1028	1043	N/A	INTRINSIC
low complexity region	1093	1107	N/A	INTRINSIC
coiled coil region	1155	1227	N/A	INTRINSIC
low complexity region	1242	1256	N/A	INTRINSIC
CAMSAP_CKK	1337	1466	1.59e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192001
AA Change: D686E

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

SMART Domains

Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: D686E

Domain	Start	End	E-Value	Type
Pfam:CH	178	324	1.1e-37	PFAM
Pfam:CAMSAP_CH	222	305	2.7e-36	PFAM
low complexity region	362	371	N/A	INTRINSIC
low complexity region	380	393	N/A	INTRINSIC
low complexity region	466	474	N/A	INTRINSIC
low complexity region	654	673	N/A	INTRINSIC
low complexity region	689	694	N/A	INTRINSIC
coiled coil region	729	767	N/A	INTRINSIC
coiled coil region	861	899	N/A	INTRINSIC
low complexity region	905	912	N/A	INTRINSIC
low complexity region	926	939	N/A	INTRINSIC
low complexity region	1011	1026	N/A	INTRINSIC
low complexity region	1076	1090	N/A	INTRINSIC
coiled coil region	1138	1210	N/A	INTRINSIC
low complexity region	1225	1239	N/A	INTRINSIC
CAMSAP_CKK	1320	1449	1.59e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192314
AA Change: D697E

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

SMART Domains

Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: D697E

Domain	Start	End	E-Value	Type
Pfam:CH	178	335	1.2e-35	PFAM
Pfam:CAMSAP_CH	233	316	3.2e-34	PFAM
low complexity region	373	382	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
low complexity region	477	485	N/A	INTRINSIC
low complexity region	665	684	N/A	INTRINSIC
low complexity region	700	705	N/A	INTRINSIC
coiled coil region	740	778	N/A	INTRINSIC
coiled coil region	872	910	N/A	INTRINSIC
low complexity region	916	923	N/A	INTRINSIC
low complexity region	937	950	N/A	INTRINSIC
low complexity region	1022	1037	N/A	INTRINSIC
low complexity region	1087	1101	N/A	INTRINSIC
coiled coil region	1149	1221	N/A	INTRINSIC
low complexity region	1236	1250	N/A	INTRINSIC
CAMSAP_CKK	1331	1460	1.2e-90	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000194808
AA Change: D29E

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823		probably benign	Het
Abcb1b	A	G	5: 8,845,814	T916A	probably benign	Het
Adam22	A	T	5: 8,111,897	Y50*	probably null	Het
Adprhl2	T	C	4: 126,317,294		probably benign	Het
Ahnak	G	A	19: 9,011,239	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720	Q334L	probably benign	Het
Car11	A	G	7: 45,702,455	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986	T13S	probably benign	Het
Fam13a	T	C	6: 58,956,858	E249G	probably damaging	Het
Fgd6	G	A	10: 94,044,456	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061		probably benign	Het
Fn3krp	T	C	11: 121,429,630	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,063,087		probably null	Het
Iqgap1	T	A	7: 80,713,842	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478		probably benign	Het
Mark1	T	C	1: 184,919,693	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,641,855	D187G	probably benign	Het
Mrpl19	G	T	6: 81,961,993	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136	T105M	probably damaging	Het
Nop14	A	G	5: 34,650,628		probably benign	Het
Olfr1018	A	G	2: 85,823,558	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591	T26A	probably benign	Het
Otud7b	G	A	3: 96,155,478	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,336,152	V25M	probably damaging	Het
Prpf39	G	T	12: 65,043,302	G5*	probably null	Het
Serpinb9d	T	C	13: 33,202,912	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452	I55T	probably benign	Het
Spata13	T	C	14: 60,691,614	I207T	possibly damaging	Het
Suco	T	C	1: 161,857,337		probably benign	Het
Svs2	A	G	2: 164,237,112	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052		probably benign	Het
Ttc26	C	T	6: 38,425,231	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601	T602I	probably benign	Het

Other mutations in Camsap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Camsap2	APN	1	136297790	missense	probably benign	0.23
IGL02727:Camsap2	APN	1	136304312	missense	probably benign
IGL02803:Camsap2	APN	1	136281123	missense	probably damaging	1.00
IGL03037:Camsap2	APN	1	136274857	missense	probably damaging	1.00
IGL03124:Camsap2	APN	1	136274799	critical splice donor site	probably null
IGL03297:Camsap2	APN	1	136297801	missense	probably benign
IGL03347:Camsap2	APN	1	136280986	missense	possibly damaging	0.52
ANU23:Camsap2	UTSW	1	136297790	missense	probably benign	0.23
PIT4366001:Camsap2	UTSW	1	136280317	missense
R0001:Camsap2	UTSW	1	136282888	unclassified	probably benign
R0037:Camsap2	UTSW	1	136281892	missense	probably damaging	1.00
R0140:Camsap2	UTSW	1	136280382	missense	probably benign
R0194:Camsap2	UTSW	1	136292948	nonsense	probably null
R0206:Camsap2	UTSW	1	136281000	missense	probably damaging	1.00
R0208:Camsap2	UTSW	1	136281000	missense	probably damaging	1.00
R0517:Camsap2	UTSW	1	136293388	missense	possibly damaging	0.95
R0648:Camsap2	UTSW	1	136304319	missense	probably damaging	0.96
R0735:Camsap2	UTSW	1	136292888	missense	probably damaging	1.00
R0790:Camsap2	UTSW	1	136273737	splice site	probably benign
R0880:Camsap2	UTSW	1	136280970	missense	probably benign	0.08
R1559:Camsap2	UTSW	1	136282094	missense	probably benign	0.02
R1728:Camsap2	UTSW	1	136281315	missense	probably benign	0.00
R1729:Camsap2	UTSW	1	136281315	missense	probably benign	0.00
R1730:Camsap2	UTSW	1	136281315	missense	probably benign	0.00
R1739:Camsap2	UTSW	1	136281315	missense	probably benign	0.00
R1762:Camsap2	UTSW	1	136281315	missense	probably benign	0.00
R1783:Camsap2	UTSW	1	136281315	missense	probably benign	0.00
R1784:Camsap2	UTSW	1	136281315	missense	probably benign	0.00
R1785:Camsap2	UTSW	1	136281315	missense	probably benign	0.00
R1823:Camsap2	UTSW	1	136273783	missense	possibly damaging	0.65
R1824:Camsap2	UTSW	1	136273783	missense	possibly damaging	0.65
R1997:Camsap2	UTSW	1	136271545	missense	probably damaging	1.00
R2010:Camsap2	UTSW	1	136274868	missense	probably damaging	1.00
R2237:Camsap2	UTSW	1	136345331	missense	probably damaging	1.00
R2923:Camsap2	UTSW	1	136280809	missense	possibly damaging	0.95
R4275:Camsap2	UTSW	1	136270876	missense	probably benign	0.01
R4371:Camsap2	UTSW	1	136287963	missense	probably damaging	1.00
R4976:Camsap2	UTSW	1	136304386	missense	probably damaging	1.00
R5227:Camsap2	UTSW	1	136274891	intron	probably benign
R5513:Camsap2	UTSW	1	136280863	missense	probably benign	0.23
R5755:Camsap2	UTSW	1	136282327	missense	probably damaging	1.00
R5834:Camsap2	UTSW	1	136280388	missense	probably benign
R5966:Camsap2	UTSW	1	136276592	missense	probably damaging	1.00
R6031:Camsap2	UTSW	1	136280438	missense	possibly damaging	0.46
R6031:Camsap2	UTSW	1	136280438	missense	possibly damaging	0.46
R6111:Camsap2	UTSW	1	136281298	missense	probably benign
R6147:Camsap2	UTSW	1	136345400	missense	probably damaging	1.00
R6284:Camsap2	UTSW	1	136304437	missense	possibly damaging	0.63
R6293:Camsap2	UTSW	1	136287920	missense	probably damaging	1.00
R6306:Camsap2	UTSW	1	136281199	missense	probably benign
R6403:Camsap2	UTSW	1	136280800	nonsense	probably null
R6410:Camsap2	UTSW	1	136345444	start gained	probably benign
R6943:Camsap2	UTSW	1	136304449	missense	probably damaging	1.00
R7268:Camsap2	UTSW	1	136273745	splice site	probably null
R7448:Camsap2	UTSW	1	136270906	missense
R7472:Camsap2	UTSW	1	136281393	missense	probably damaging	0.96
R7478:Camsap2	UTSW	1	136270940	missense
R7515:Camsap2	UTSW	1	136345370	missense	probably damaging	0.99
R7691:Camsap2	UTSW	1	136293004	missense	probably damaging	0.99
R7800:Camsap2	UTSW	1	136281901	missense	probably damaging	0.99
R8040:Camsap2	UTSW	1	136281247	missense
R8188:Camsap2	UTSW	1	136297394	splice site	probably null
R8238:Camsap2	UTSW	1	136294026	missense	probably benign	0.03
R8258:Camsap2	UTSW	1	136280339	missense	probably benign	0.00
R8259:Camsap2	UTSW	1	136280339	missense	probably benign	0.00
R8537:Camsap2	UTSW	1	136277205	missense	probably damaging	0.99
R8782:Camsap2	UTSW	1	136277219	missense
R9301:Camsap2	UTSW	1	136274902	critical splice acceptor site	probably null
R9600:Camsap2	UTSW	1	136277198	missense
X0018:Camsap2	UTSW	1	136276575	missense	probably benign	0.00

Posted On

2016-08-02