Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03297:Camsap2'

416117

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, 4930541M15Rik, Camsap1l1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

IGL03297

Quality Score

Status

Chromosome

Chromosomal Location

136195861-136273842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136225539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 196 (M196V)

Ref Sequence

ENSEMBL: ENSMUSP00000142299 (fasta)

Gene Model

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

AlphaFold

Q8C1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000048309
AA Change: M196V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: M196V

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 benign
Transcript: ENSMUST00000192001
AA Change: M196V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: M196V

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 benign
Transcript: ENSMUST00000192314
AA Change: M196V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: M196V

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

noncoding transcript
Transcript: ENSMUST00000192933

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,341,663 (GRCm39)	G1624S	probably damaging	Het
Adhfe1	A	G	1: 9,620,173 (GRCm39)		probably benign	Het
Ano6	C	A	15: 95,860,158 (GRCm39)	T760N	probably damaging	Het
Cd209d	T	C	8: 3,928,476 (GRCm39)	D3G	possibly damaging	Het
Cdh5	T	A	8: 104,854,831 (GRCm39)	F253Y	probably damaging	Het
Cnot10	T	C	9: 114,427,784 (GRCm39)	E610G	possibly damaging	Het
Cnot4	T	C	6: 35,001,158 (GRCm39)	N579S	probably benign	Het
Csmd1	G	T	8: 16,059,432 (GRCm39)	S2101*	probably null	Het
Dgkq	C	A	5: 108,798,140 (GRCm39)	R706L	probably damaging	Het
Gm5422	T	C	10: 31,125,727 (GRCm39)		noncoding transcript	Het
Gpr34	A	G	X: 13,505,681 (GRCm39)	Y70C	probably damaging	Het
Herc6	T	A	6: 57,639,374 (GRCm39)	L914Q	probably benign	Het
Ifitm6	T	C	7: 140,595,948 (GRCm39)	Y115C	probably damaging	Het
Iqcg	G	T	16: 32,856,002 (GRCm39)		probably benign	Het
Myo15a	A	G	11: 60,369,967 (GRCm39)	D909G	probably damaging	Het
Nefl	A	G	14: 68,321,673 (GRCm39)	T88A	possibly damaging	Het
Nfatc2	T	A	2: 168,378,138 (GRCm39)	N509I	probably damaging	Het
Nkd1	T	C	8: 89,300,902 (GRCm39)		probably benign	Het
Npas2	T	C	1: 39,331,771 (GRCm39)	V62A	possibly damaging	Het
Oas2	T	G	5: 120,873,150 (GRCm39)	D635A	possibly damaging	Het
Obscn	C	T	11: 58,951,712 (GRCm39)	V4014M	possibly damaging	Het
Ogfr	C	A	2: 180,236,200 (GRCm39)	H262N	possibly damaging	Het
Or10aa1	T	G	1: 173,869,683 (GRCm39)	S56A	probably benign	Het
Or8b49	A	T	9: 38,505,821 (GRCm39)	L101F	probably benign	Het
Pa2g4	T	C	10: 128,399,105 (GRCm39)	D104G	probably damaging	Het
Parp11	T	C	6: 127,467,045 (GRCm39)		probably benign	Het
Ppp2r5a	C	T	1: 191,086,959 (GRCm39)	V360I	probably benign	Het
Ptpn13	A	T	5: 103,688,943 (GRCm39)	K912I	probably benign	Het
Sec16a	A	G	2: 26,329,202 (GRCm39)	S938P	probably benign	Het
Slc15a1	A	C	14: 121,724,096 (GRCm39)	I170S	probably damaging	Het
Smchd1	T	C	17: 71,656,695 (GRCm39)	N1924S	probably benign	Het
Sprr4	G	A	3: 92,407,731 (GRCm39)	P24S	unknown	Het
Trim30b	A	T	7: 104,015,102 (GRCm39)	N95K	probably benign	Het
Tyw1	C	T	5: 130,369,575 (GRCm39)	A687V	probably damaging	Het
Vmn2r14	T	A	5: 109,363,973 (GRCm39)	I648F	probably damaging	Het
Vmn2r78	T	A	7: 86,569,969 (GRCm39)	C162*	probably null	Het

Other mutations in Camsap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Camsap2	APN	1	136,225,528 (GRCm39)	missense	probably benign	0.23
IGL02727:Camsap2	APN	1	136,232,050 (GRCm39)	missense	probably benign
IGL02803:Camsap2	APN	1	136,208,861 (GRCm39)	missense	probably damaging	1.00
IGL03037:Camsap2	APN	1	136,202,595 (GRCm39)	missense	probably damaging	1.00
IGL03124:Camsap2	APN	1	136,202,537 (GRCm39)	critical splice donor site	probably null
IGL03189:Camsap2	APN	1	136,209,400 (GRCm39)	missense	probably damaging	1.00
IGL03347:Camsap2	APN	1	136,208,724 (GRCm39)	missense	possibly damaging	0.52
ANU23:Camsap2	UTSW	1	136,225,528 (GRCm39)	missense	probably benign	0.23
PIT4366001:Camsap2	UTSW	1	136,208,055 (GRCm39)	missense
R0001:Camsap2	UTSW	1	136,210,626 (GRCm39)	unclassified	probably benign
R0037:Camsap2	UTSW	1	136,209,630 (GRCm39)	missense	probably damaging	1.00
R0140:Camsap2	UTSW	1	136,208,120 (GRCm39)	missense	probably benign
R0194:Camsap2	UTSW	1	136,220,686 (GRCm39)	nonsense	probably null
R0206:Camsap2	UTSW	1	136,208,738 (GRCm39)	missense	probably damaging	1.00
R0208:Camsap2	UTSW	1	136,208,738 (GRCm39)	missense	probably damaging	1.00
R0517:Camsap2	UTSW	1	136,221,126 (GRCm39)	missense	possibly damaging	0.95
R0648:Camsap2	UTSW	1	136,232,057 (GRCm39)	missense	probably damaging	0.96
R0735:Camsap2	UTSW	1	136,220,626 (GRCm39)	missense	probably damaging	1.00
R0790:Camsap2	UTSW	1	136,201,475 (GRCm39)	splice site	probably benign
R0880:Camsap2	UTSW	1	136,208,708 (GRCm39)	missense	probably benign	0.08
R1559:Camsap2	UTSW	1	136,209,832 (GRCm39)	missense	probably benign	0.02
R1728:Camsap2	UTSW	1	136,209,053 (GRCm39)	missense	probably benign	0.00
R1729:Camsap2	UTSW	1	136,209,053 (GRCm39)	missense	probably benign	0.00
R1730:Camsap2	UTSW	1	136,209,053 (GRCm39)	missense	probably benign	0.00
R1739:Camsap2	UTSW	1	136,209,053 (GRCm39)	missense	probably benign	0.00
R1762:Camsap2	UTSW	1	136,209,053 (GRCm39)	missense	probably benign	0.00
R1783:Camsap2	UTSW	1	136,209,053 (GRCm39)	missense	probably benign	0.00
R1784:Camsap2	UTSW	1	136,209,053 (GRCm39)	missense	probably benign	0.00
R1785:Camsap2	UTSW	1	136,209,053 (GRCm39)	missense	probably benign	0.00
R1823:Camsap2	UTSW	1	136,201,521 (GRCm39)	missense	possibly damaging	0.65
R1824:Camsap2	UTSW	1	136,201,521 (GRCm39)	missense	possibly damaging	0.65
R1997:Camsap2	UTSW	1	136,199,283 (GRCm39)	missense	probably damaging	1.00
R2010:Camsap2	UTSW	1	136,202,606 (GRCm39)	missense	probably damaging	1.00
R2237:Camsap2	UTSW	1	136,273,069 (GRCm39)	missense	probably damaging	1.00
R2923:Camsap2	UTSW	1	136,208,547 (GRCm39)	missense	possibly damaging	0.95
R4275:Camsap2	UTSW	1	136,198,614 (GRCm39)	missense	probably benign	0.01
R4371:Camsap2	UTSW	1	136,215,701 (GRCm39)	missense	probably damaging	1.00
R4976:Camsap2	UTSW	1	136,232,124 (GRCm39)	missense	probably damaging	1.00
R5227:Camsap2	UTSW	1	136,202,629 (GRCm39)	intron	probably benign
R5513:Camsap2	UTSW	1	136,208,601 (GRCm39)	missense	probably benign	0.23
R5755:Camsap2	UTSW	1	136,210,065 (GRCm39)	missense	probably damaging	1.00
R5834:Camsap2	UTSW	1	136,208,126 (GRCm39)	missense	probably benign
R5966:Camsap2	UTSW	1	136,204,330 (GRCm39)	missense	probably damaging	1.00
R6031:Camsap2	UTSW	1	136,208,176 (GRCm39)	missense	possibly damaging	0.46
R6031:Camsap2	UTSW	1	136,208,176 (GRCm39)	missense	possibly damaging	0.46
R6111:Camsap2	UTSW	1	136,209,036 (GRCm39)	missense	probably benign
R6147:Camsap2	UTSW	1	136,273,138 (GRCm39)	missense	probably damaging	1.00
R6284:Camsap2	UTSW	1	136,232,175 (GRCm39)	missense	possibly damaging	0.63
R6293:Camsap2	UTSW	1	136,215,658 (GRCm39)	missense	probably damaging	1.00
R6306:Camsap2	UTSW	1	136,208,937 (GRCm39)	missense	probably benign
R6403:Camsap2	UTSW	1	136,208,538 (GRCm39)	nonsense	probably null
R6410:Camsap2	UTSW	1	136,273,182 (GRCm39)	start gained	probably benign
R6943:Camsap2	UTSW	1	136,232,187 (GRCm39)	missense	probably damaging	1.00
R7268:Camsap2	UTSW	1	136,201,483 (GRCm39)	splice site	probably null
R7448:Camsap2	UTSW	1	136,198,644 (GRCm39)	missense
R7472:Camsap2	UTSW	1	136,209,131 (GRCm39)	missense	probably damaging	0.96
R7478:Camsap2	UTSW	1	136,198,678 (GRCm39)	missense
R7515:Camsap2	UTSW	1	136,273,108 (GRCm39)	missense	probably damaging	0.99
R7691:Camsap2	UTSW	1	136,220,742 (GRCm39)	missense	probably damaging	0.99
R7800:Camsap2	UTSW	1	136,209,639 (GRCm39)	missense	probably damaging	0.99
R8040:Camsap2	UTSW	1	136,208,985 (GRCm39)	missense
R8188:Camsap2	UTSW	1	136,225,132 (GRCm39)	splice site	probably null
R8238:Camsap2	UTSW	1	136,221,764 (GRCm39)	missense	probably benign	0.03
R8258:Camsap2	UTSW	1	136,208,077 (GRCm39)	missense	probably benign	0.00
R8259:Camsap2	UTSW	1	136,208,077 (GRCm39)	missense	probably benign	0.00
R8537:Camsap2	UTSW	1	136,204,943 (GRCm39)	missense	probably damaging	0.99
R8782:Camsap2	UTSW	1	136,204,957 (GRCm39)	missense
R9301:Camsap2	UTSW	1	136,202,640 (GRCm39)	critical splice acceptor site	probably null
R9600:Camsap2	UTSW	1	136,204,936 (GRCm39)	missense
X0018:Camsap2	UTSW	1	136,204,313 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02