Mutagenetix > Incidental Mutation

Incidental Mutation 'R4275:Camsap2'

324741

Institutional Source

Beutler Lab

Gene Symbol

Camsap2

Ensembl Gene

ENSMUSG00000041570

Gene Name

calmodulin regulated spectrin-associated protein family, member 2

Synonyms

1600013L13Rik, 4930541M15Rik, Camsap1l1

MMRRC Submission

041646-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R4275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136195861-136273842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136198614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1462 (V1462A)

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: V1468A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: V1468A

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

noncoding transcript
Transcript: ENSMUST00000181385

Predicted Effect

probably benign
Transcript: ENSMUST00000192001
AA Change: V1451A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: V1451A

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: V1462A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: V1462A

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: V803A

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	T	C	1: 154,369,071 (GRCm39)	Y322C	probably damaging	Het
D3Ertd751e	C	A	3: 41,710,589 (GRCm39)		probably benign	Het
Dhcr7	C	T	7: 143,396,964 (GRCm39)	A152V	probably damaging	Het
Enpep	A	T	3: 129,125,927 (GRCm39)	N68K	probably benign	Het
Fam131b	G	A	6: 42,298,241 (GRCm39)	L43F	probably damaging	Het
Fbxl5	T	A	5: 43,920,114 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hycc2	T	C	1: 58,569,092 (GRCm39)	T440A	probably benign	Het
Igf2	T	C	7: 142,209,523 (GRCm39)	M46V	probably benign	Het
Kntc1	T	A	5: 123,905,842 (GRCm39)	Y367N	probably damaging	Het
Mapk8ip2	T	C	15: 89,343,198 (GRCm39)	W647R	probably damaging	Het
Mettl21c	C	T	1: 44,049,716 (GRCm39)	V110I	probably damaging	Het
Mrgprh	T	C	17: 13,096,114 (GRCm39)	L118P	probably damaging	Het
Myadm	A	G	7: 3,345,618 (GRCm39)	T127A	probably benign	Het
Myh10	A	T	11: 68,642,766 (GRCm39)		probably null	Het
Nadk	T	A	4: 155,668,712 (GRCm39)	Y128N	probably benign	Het
Or5g27	T	C	2: 85,410,207 (GRCm39)	V208A	probably benign	Het
Or8k39	T	C	2: 86,563,936 (GRCm39)	T7A	probably damaging	Het
Papolg	A	G	11: 23,818,378 (GRCm39)	I500T	probably benign	Het
Pkhd1	A	T	1: 20,128,608 (GRCm39)	C4032S	probably benign	Het
Rnase1	A	T	14: 51,383,327 (GRCm39)	L9Q	probably damaging	Het
Rspry1	G	T	8: 95,376,389 (GRCm39)	V304L	probably benign	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Scpep1	T	C	11: 88,837,968 (GRCm39)		probably null	Het
Serpina3m	T	A	12: 104,355,375 (GRCm39)	I14N	probably damaging	Het
Smg6	A	C	11: 74,884,700 (GRCm39)		probably benign	Het
Suz12	T	C	11: 79,920,879 (GRCm39)	M593T	probably damaging	Het
Tmem139	A	G	6: 42,241,039 (GRCm39)	E208G	probably damaging	Het
Tnxb	A	G	17: 34,917,205 (GRCm39)	Y2200C	probably damaging	Het
Usp19	T	G	9: 108,375,893 (GRCm39)	V911G	probably damaging	Het
Vipr1	T	C	9: 121,493,684 (GRCm39)	L245P	probably damaging	Het
Vmn2r105	T	A	17: 20,448,902 (GRCm39)	I92F	probably damaging	Het
Zbtb47	T	A	9: 121,595,605 (GRCm39)	V576D	probably damaging	Het
Zfp518b	A	G	5: 38,829,071 (GRCm39)	V978A	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
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
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

PCR Primer
(F):5'- CGTCGGCATTCCAAACACTG -3'
(R):5'- TATACTTACTGCCCAGAAACTGAAG -3'

Sequencing Primer
(F):5'- TCGGCATTCCAAACACTGTGATTAC -3'
(R):5'- TTACTGCCCAGAAACTGAAGAAATC -3'

Posted On

2015-06-24