Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Camsap2'

206540

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

039851-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136195861-136273842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136201521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 662 (T662A)

Gene Model

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

AlphaFold

Q8C1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000048309
AA Change: T1327A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: T1327A

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: T1310A

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: T1310A

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: T1321A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: T1321A

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

possibly damaging
Transcript: ENSMUST00000194808
AA Change: T662A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.0746

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,111,312 (GRCm39)	V868I	probably benign	Het
Ahnak	G	T	19: 8,982,269 (GRCm39)	M1184I	probably damaging	Het
Akap11	T	C	14: 78,748,928 (GRCm39)	E1153G	probably damaging	Het
Amy1	T	C	3: 113,356,376 (GRCm39)	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427 (GRCm39)	L129P	probably damaging	Het
Aox1	A	T	1: 58,351,518 (GRCm39)	T702S	probably benign	Het
Apobec1	G	T	6: 122,555,845 (GRCm39)	T204K	possibly damaging	Het
Arhgef19	A	G	4: 140,976,457 (GRCm39)	R433G	probably benign	Het
Atf6b	T	A	17: 34,867,618 (GRCm39)	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,694,826 (GRCm39)		probably null	Het
Cbs	G	A	17: 31,843,245 (GRCm39)	H229Y	probably damaging	Het
Cct8	G	A	16: 87,287,442 (GRCm39)	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,293,993 (GRCm39)	A250T	probably damaging	Het
Chrd	A	G	16: 20,560,097 (GRCm39)		probably benign	Het
Ckap2l	A	G	2: 129,117,499 (GRCm39)	F559L	probably damaging	Het
Cltrn	A	G	X: 162,901,230 (GRCm39)	D184G	possibly damaging	Het
D630003M21Rik	T	C	2: 158,059,477 (GRCm39)	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,447,539 (GRCm39)	N557S	probably benign	Het
Dct	T	G	14: 118,273,935 (GRCm39)	N324T	probably benign	Het
Dip2a	A	T	10: 76,114,336 (GRCm39)	L999*	probably null	Het
Dock10	T	A	1: 80,520,814 (GRCm39)		probably null	Het
Dync2li1	A	T	17: 84,957,225 (GRCm39)	D330V	probably damaging	Het
Eif4g3	T	A	4: 137,907,802 (GRCm39)	D1267E	probably benign	Het
Enc1	A	G	13: 97,382,486 (GRCm39)	E332G	possibly damaging	Het
Fat2	C	T	11: 55,147,606 (GRCm39)	V3879I	probably benign	Het
Fh1	A	T	1: 175,444,114 (GRCm39)	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,255,328 (GRCm39)	L227P	probably damaging	Het
Fpr1	T	A	17: 18,097,315 (GRCm39)	M225L	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Grm7	A	G	6: 111,184,730 (GRCm39)	T354A	probably benign	Het
Ift27	T	A	15: 78,057,978 (GRCm39)	I9F	possibly damaging	Het
Igf1r	A	G	7: 67,844,729 (GRCm39)	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,243,028 (GRCm39)	L738Q	probably damaging	Het
Itgam	A	T	7: 127,663,904 (GRCm39)	T44S	probably benign	Het
Ivd	T	A	2: 118,692,515 (GRCm39)	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780 (GRCm39)	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,995,524 (GRCm39)	V251A	probably benign	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,715,923 (GRCm39)		probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Myocd	C	A	11: 65,069,496 (GRCm39)	M909I	probably benign	Het
Ndufv3	G	A	17: 31,750,219 (GRCm39)	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,257,177 (GRCm39)	V319M	probably damaging	Het
Or13p4	T	A	4: 118,547,389 (GRCm39)	N87Y	probably damaging	Het
Or1af1	T	C	2: 37,110,344 (GRCm39)	V281A	probably damaging	Het
Or1p1c	C	T	11: 74,161,043 (GRCm39)	A276V	probably damaging	Het
Or2q1	G	T	6: 42,795,202 (GRCm39)	A266S	possibly damaging	Het
Or2t1	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Or4c111	A	G	2: 88,843,722 (GRCm39)	S229P	probably benign	Het
Or5b101	C	A	19: 13,005,181 (GRCm39)	V171L	probably benign	Het
Parp4	T	C	14: 56,827,329 (GRCm39)		probably benign	Het
Pcdhb9	A	G	18: 37,535,871 (GRCm39)	T622A	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,853,658 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,882,617 (GRCm39)	Y708C	probably damaging	Het
Pnp	T	C	14: 51,187,786 (GRCm39)	F107L	probably damaging	Het
Postn	T	A	3: 54,292,708 (GRCm39)		probably null	Het
Prcp	A	T	7: 92,577,883 (GRCm39)	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,454,177 (GRCm39)	I52F	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,241 (GRCm39)	I248N	probably damaging	Het
Ror2	T	G	13: 53,264,341 (GRCm39)	E917A	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sema6d	A	G	2: 124,501,476 (GRCm39)		probably null	Het
Shisal1	T	C	15: 84,290,669 (GRCm39)	T213A	probably benign	Het
Slc4a2	C	T	5: 24,632,618 (GRCm39)	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,888,901 (GRCm39)		noncoding transcript	Het
Slf2	A	T	19: 44,923,687 (GRCm39)	H167L	possibly damaging	Het
Snx9	G	T	17: 5,970,946 (GRCm39)	G429V	probably damaging	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Spta1	T	A	1: 174,074,115 (GRCm39)	D2351E	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,788,005 (GRCm39)	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Tnfsf9	A	G	17: 57,412,738 (GRCm39)	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,552,595 (GRCm39)	L163P	possibly damaging	Het
Trim52	T	A	14: 106,344,401 (GRCm39)	C20S	probably damaging	Het
Ucp1	C	T	8: 84,020,661 (GRCm39)	T157I	probably damaging	Het
Uspl1	T	A	5: 149,151,224 (GRCm39)	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,962,580 (GRCm39)	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,413,405 (GRCm39)	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 86,687,080 (GRCm39)	I820M	probably damaging	Het
Wscd1	C	A	11: 71,651,044 (GRCm39)	P124T	probably benign	Het
Zfp780b	A	T	7: 27,662,525 (GRCm39)	C677S	possibly 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
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

PCR Primer
(F):5'- TTAGTGGGGCTGCATCACTG -3'
(R):5'- AGCACTACCTCATTTCTAAAGCTC -3'

Sequencing Primer
(F):5'- TGCATCACTGAAAGGCTCG -3'
(R):5'- ACCTCATTTCTAAAGCTCTAGGTTGG -3'

Posted On

2014-06-23