Mutagenetix > Incidental Mutations

Incidental Mutation 'R6284:Camsap2'

508085

Institutional Source

Beutler Lab

Gene Symbol

Camsap2

Ensembl Gene

ENSMUSG00000041570

Gene Name

calmodulin regulated spectrin-associated protein family, member 2

Synonyms

1600013L13Rik, Camsap1l1, 4930541M15Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136268123-136346104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136304437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 140 (I140T)

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: I140T

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: I140T

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: I140T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: I140T

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

possibly damaging
Transcript: ENSMUST00000192314
AA Change: I140T

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: I140T

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

Meta Mutation Damage Score

0.5843

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,844,568	T423A	possibly damaging	Het
Anpep	T	A	7: 79,825,802	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376		probably null	Het
Atp5a1	T	A	18: 77,778,468	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605		probably null	Het
Bclaf1	T	G	10: 20,322,160		probably null	Het
Bod1l	A	G	5: 41,818,787	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282	F51L	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653		probably null	Het
Cdh26	G	C	2: 178,449,884	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,451,796	F863L	probably damaging	Het
Clstn2	C	T	9: 97,454,674	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227		probably null	Het
Cul5	G	A	9: 53,623,735	P596L	probably damaging	Het
Dst	A	T	1: 34,229,085	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684	I402N	probably damaging	Het
Fam160a1	G	A	3: 85,672,688	P737S	probably benign	Het
Fam162b	T	C	10: 51,585,502	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104	C41G	unknown	Het
Lyar	T	A	5: 38,225,995	W77R	probably damaging	Het
March11	G	A	15: 26,409,346	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925	I150V	probably benign	Het
Nop14	C	T	5: 34,641,491		probably null	Het
Oprl1	T	A	2: 181,717,991		probably benign	Het
Pacsin1	T	C	17: 27,708,504	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984	I269N	probably damaging	Het
Pnpla7	C	A	2: 25,016,618	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921		probably null	Het
Stxbp5	A	C	10: 9,767,179	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629	C346*	probably null	Het
Zfp938	A	T	10: 82,227,566	S52R	possibly damaging	Het
Zp1	A	T	19: 10,916,503	L446Q	probably damaging	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
IGL03189:Camsap2	APN	1	136281662	missense	probably damaging	1.00
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
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
X0018:Camsap2	UTSW	1	136276575	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCAGACAGGAACAATGTGC -3'
(R):5'- ATCAAATGAGTCTGGTCCTGTTG -3'

Sequencing Primer
(F):5'- CAATGTGCAACCAAGGATTTCAG -3'
(R):5'- CCTGTTGGTTTTCTTAGCATGC -3'

Posted On

2018-03-15