Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU23:Camsap2'

262620

Institutional Source

Beutler Lab

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: 0.549) question?

Stock #

ANU23

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136195861-136273842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136225528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 199 (E199D)

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: E199D

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: E199D

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: E199D

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: E199D

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: E199D

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: E199D

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

1x: 98.7%
3x: 98.2%
10x: 96.6%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	G	A	12: 70,215,822 (GRCm39)	G88S	probably damaging	Het
Acot10	A	G	15: 20,666,051 (GRCm39)	F230S	probably benign	Het
Akap12	G	T	10: 4,303,273 (GRCm39)	A28S	probably benign	Het
Anks1	C	A	17: 28,205,227 (GRCm39)	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,197,710 (GRCm39)	Y349H	possibly damaging	Het
Cacna1g	G	A	11: 94,357,054 (GRCm39)		probably benign	Het
Ccdc13	A	T	9: 121,656,429 (GRCm39)	M128K	probably benign	Het
Ccdc38	T	C	10: 93,405,797 (GRCm39)		probably null	Het
Cep95	G	A	11: 106,704,641 (GRCm39)	V499I	probably benign	Het
Cpne6	G	C	14: 55,749,459 (GRCm39)	M6I	probably benign	Het
Cpne6	A	T	14: 55,752,706 (GRCm39)	I299F	probably damaging	Het
Cse1l	T	A	2: 166,769,428 (GRCm39)	Y278*	probably null	Het
Dip2c	A	G	13: 9,625,179 (GRCm39)	N558D	possibly damaging	Het
Edar	A	T	10: 58,464,460 (GRCm39)	C60S	probably damaging	Het
Fat2	T	C	11: 55,201,698 (GRCm39)	N459D	probably benign	Het
Fbxw8	C	T	5: 118,251,785 (GRCm39)	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,704,810 (GRCm39)	A150V	possibly damaging	Het
Gm5422	A	T	10: 31,125,432 (GRCm39)		noncoding transcript	Het
Gpatch3	CAGGAGGAGGAGGAGGAG	CAGGAGGAGGAGGAG	4: 133,305,613 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,147,020 (GRCm39)	T392A	probably benign	Het
Idh3a	T	A	9: 54,493,829 (GRCm39)		probably null	Het
Itpk1	T	C	12: 102,572,362 (GRCm39)	E117G	probably damaging	Het
Kif12	G	T	4: 63,084,121 (GRCm39)	P627Q	probably damaging	Het
Krtap15-1	T	A	16: 88,626,255 (GRCm39)	F88L	probably benign	Het
Mcm7	C	T	5: 138,168,653 (GRCm39)	V13I	probably benign	Het
Mlh1	T	C	9: 111,081,980 (GRCm39)	N248D	possibly damaging	Het
Or2i1	T	C	17: 37,507,833 (GRCm39)	N342S	probably benign	Het
Or4k15	A	G	14: 50,364,039 (GRCm39)	N2D	probably benign	Het
Or52z12	T	C	7: 103,233,900 (GRCm39)	Y224H	probably damaging	Het
Per2	T	C	1: 91,376,555 (GRCm39)	H106R	probably damaging	Het
Pfkl	T	A	10: 77,827,229 (GRCm39)	T486S	probably benign	Het
Prkdc	T	C	16: 15,485,595 (GRCm39)	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,445,256 (GRCm39)	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,082,395 (GRCm39)	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,011,564 (GRCm39)	A110E	probably benign	Het
Siglecf	T	A	7: 43,001,377 (GRCm39)	L115*	probably null	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,892,313 (GRCm39)	K18*	probably null	Het
Spata1	A	T	3: 146,193,154 (GRCm39)	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,056,620 (GRCm39)	T440I	probably benign	Het
Vmn1r159	A	G	7: 22,542,588 (GRCm39)	V148A	probably damaging	Het
Wnt16	C	T	6: 22,297,934 (GRCm39)	R267C	probably damaging	Het
Xylt1	A	C	7: 117,148,125 (GRCm39)	S230R	probably benign	Het
Zfp334	T	C	2: 165,223,017 (GRCm39)	H342R	probably damaging	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
IGL03297:Camsap2	APN	1	136,225,539 (GRCm39)	missense	probably benign
IGL03347:Camsap2	APN	1	136,208,724 (GRCm39)	missense	possibly damaging	0.52
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

Predicted Primers

Posted On

2015-02-04