Mutagenetix > Incidental Mutation

Incidental Mutation 'R7448:Camsap2'

577422

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

045523-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R7448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136268123-136346104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136270906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 793 (H793L)

Gene Model

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

AlphaFold

Q8C1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000048309
AA Change: H1458L

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: H1458L

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

possibly damaging
Transcript: ENSMUST00000192001
AA Change: H1441L

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: H1441L

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: H1452L

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: H1452L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (117/117)

Allele List at MGI

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,257,266 (GRCm38)	N256D	probably damaging	Het
1700015F17Rik	T	C	5: 5,455,952 (GRCm38)	I110V	probably benign	Het
Acss2	T	C	2: 155,518,266 (GRCm38)	S54P	probably damaging	Het
Ahnak2	T	C	12: 112,782,502 (GRCm38)	K1242E		Het
Alpi	T	A	1: 87,101,535 (GRCm38)	M1L	possibly damaging	Het
Atp2c1	C	T	9: 105,452,783 (GRCm38)	A283T	probably damaging	Het
Atp8b5	T	G	4: 43,366,021 (GRCm38)	M764R	probably benign	Het
B4galnt2	T	A	11: 95,869,367 (GRCm38)	H278L	probably damaging	Het
Bcl9l	G	T	9: 44,509,337 (GRCm38)	A1347S	probably benign	Het
Bicd2	A	G	13: 49,379,951 (GRCm38)	E671G	probably damaging	Het
Bmp3	A	T	5: 98,872,218 (GRCm38)	I167F	probably damaging	Het
Bpifb5	T	A	2: 154,230,185 (GRCm38)	C271S	possibly damaging	Het
Casp8ap2	T	A	4: 32,643,974 (GRCm38)	S1016T	possibly damaging	Het
Ccdc134	T	A	15: 82,140,948 (GRCm38)	I216N	possibly damaging	Het
Ccdc63	G	T	5: 122,108,182 (GRCm38)	R559S	probably benign	Het
Cd276	T	C	9: 58,535,612 (GRCm38)	T187A	probably benign	Het
Ciao1	C	T	2: 127,245,758 (GRCm38)	R219H	probably damaging	Het
Clmn	T	C	12: 104,785,428 (GRCm38)	D256G	possibly damaging	Het
Cobl	A	C	11: 12,256,225 (GRCm38)	M550R	possibly damaging	Het
Cracr2b	A	T	7: 141,464,205 (GRCm38)	T117S	probably benign	Het
Cx3cr1	G	A	9: 120,052,216 (GRCm38)	A40V	probably benign	Het
Cxcl14	A	G	13: 56,292,531 (GRCm38)	C72R	probably damaging	Het
Dab2	T	A	15: 6,422,266 (GRCm38)	I121N	probably damaging	Het
Dapk1	A	G	13: 60,751,176 (GRCm38)	Y820C	probably damaging	Het
Ech1	T	A	7: 28,826,198 (GRCm38)	C91S	probably damaging	Het
Exosc5	T	G	7: 25,659,309 (GRCm38)	V25G	probably benign	Het
Fam160a1	G	A	3: 85,672,564 (GRCm38)	S778L	probably benign	Het
Fbp1	A	C	13: 62,872,750 (GRCm38)	D122E	possibly damaging	Het
Fbxw13	A	G	9: 109,185,403 (GRCm38)	Y101H	unknown	Het
Fmnl1	T	A	11: 103,186,627 (GRCm38)	V271E	probably damaging	Het
Fuk	C	T	8: 110,890,331 (GRCm38)	G396S	possibly damaging	Het
Galnt1	T	A	18: 24,284,809 (GRCm38)	S545T	probably benign	Het
Galnt13	G	A	2: 54,516,564 (GRCm38)	V9M	possibly damaging	Het
Gatsl3	A	G	11: 4,221,897 (GRCm38)	S325G	not run	Het
Gm3550	A	G	18: 34,737,527 (GRCm38)	K38R	probably damaging	Het
Gm7995	A	T	14: 42,310,345 (GRCm38)	I45F		Het
Gpr137	C	T	19: 6,940,358 (GRCm38)	R134Q	possibly damaging	Het
Gpr22	T	G	12: 31,709,515 (GRCm38)	I203L	probably benign	Het
H2-Q10	T	C	17: 35,473,560 (GRCm38)	Y324H	not run	Het
Hcn4	G	A	9: 58,844,299 (GRCm38)	E403K	unknown	Het
Hddc2	T	A	10: 31,313,416 (GRCm38)	M1K	probably null	Het
Hps3	A	G	3: 20,035,165 (GRCm38)	F34S	probably damaging	Het
Igdcc4	G	T	9: 65,123,994 (GRCm38)	V405L	possibly damaging	Het
Itpr2	C	A	6: 146,329,508 (GRCm38)	V1215L	probably damaging	Het
Kif26b	T	C	1: 178,914,774 (GRCm38)	S812P	probably damaging	Het
Lgi1	T	A	19: 38,301,265 (GRCm38)	C260S	probably damaging	Het
Lhfp	A	G	3: 53,260,599 (GRCm38)	Y198C	probably damaging	Het
Lrp5	T	C	19: 3,649,439 (GRCm38)	D282G	probably benign	Het
Lrpprc	T	C	17: 84,772,139 (GRCm38)	T230A	probably damaging	Het
Lrtm2	A	G	6: 119,320,823 (GRCm38)	W86R	probably benign	Het
Magi2	G	A	5: 20,358,956 (GRCm38)	G199D	probably damaging	Het
Map1b	C	T	13: 99,508,140 (GRCm38)	R85Q	probably damaging	Het
March7	T	A	2: 60,247,514 (GRCm38)		probably null	Het
Morc1	A	G	16: 48,431,345 (GRCm38)	D2G	probably damaging	Het
Mpp7	A	T	18: 7,351,079 (GRCm38)	F539L	probably damaging	Het
Muc13	A	T	16: 33,814,581 (GRCm38)	I502F	probably damaging	Het
Myh13	A	G	11: 67,364,460 (GRCm38)		probably null	Het
Nat10	C	G	2: 103,748,045 (GRCm38)	L238F	probably damaging	Het
Nckap1	G	A	2: 80,524,541 (GRCm38)	T679I	probably damaging	Het
Npy6r	T	A	18: 44,276,193 (GRCm38)	I227N	probably damaging	Het
Nudt18	A	T	14: 70,577,949 (GRCm38)	M1L	unknown	Het
Olfr1306	T	A	2: 111,912,292 (GRCm38)	I213L	probably benign	Het
Olfr26	C	A	9: 38,855,116 (GRCm38)	T18K	probably damaging	Het
Olfr270	T	A	4: 52,971,207 (GRCm38)	N195K	probably damaging	Het
Olfr298	G	A	7: 86,489,209 (GRCm38)	T114I	probably damaging	Het
Olfr52	T	C	2: 86,181,334 (GRCm38)	Y259C	probably damaging	Het
Pcdha3	T	A	18: 36,946,213 (GRCm38)	F3I	probably benign	Het
Pcdhga3	T	A	18: 37,675,864 (GRCm38)	Y457N	possibly damaging	Het
Pclo	A	T	5: 14,669,617 (GRCm38)	Q1256L	unknown	Het
Piezo2	C	T	18: 63,024,472 (GRCm38)	R2389H	probably damaging	Het
Pml	G	T	9: 58,247,213 (GRCm38)	Q126K	probably benign	Het
Ppef2	A	G	5: 92,228,704 (GRCm38)	Y655H	probably damaging	Het
Ppp4r1	T	C	17: 65,840,941 (GRCm38)	V926A	probably damaging	Het
Psg29	A	G	7: 17,211,723 (GRCm38)	D406G	possibly damaging	Het
Ptprf	T	C	4: 118,235,667 (GRCm38)	D517G	probably benign	Het
Ptprg	G	A	14: 12,142,461 (GRCm38)	E371K	probably benign	Het
Rasgrp1	T	C	2: 117,287,943 (GRCm38)	I522V	probably damaging	Het
Rasgrp1	T	A	2: 117,291,697 (GRCm38)	D404V	possibly damaging	Het
Rb1cc1	T	A	1: 6,245,503 (GRCm38)	F541I	probably damaging	Het
Rgsl1	C	A	1: 153,844,101 (GRCm38)		probably null	Het
Rhobtb2	C	T	14: 69,795,948 (GRCm38)	W524*	probably null	Het
Rhox4d	G	A	X: 37,518,992 (GRCm38)	G191E	unknown	Het
Rims1	A	G	1: 22,404,475 (GRCm38)	S211P		Het
Ripor2	A	T	13: 24,670,071 (GRCm38)	Q54L	possibly damaging	Het
Rnf213	A	G	11: 119,481,291 (GRCm38)	I4903V		Het
Robo3	T	A	9: 37,424,815 (GRCm38)	I452F	possibly damaging	Het
Seh1l	C	T	18: 67,783,918 (GRCm38)	H56Y	probably damaging	Het
Sema3b	T	A	9: 107,602,963 (GRCm38)	D192V	probably damaging	Het
Sidt1	A	T	16: 44,286,400 (GRCm38)	C222*	probably null	Het
Skor1	A	G	9: 63,146,103 (GRCm38)	F195L	probably damaging	Het
Slc44a2	A	C	9: 21,348,346 (GRCm38)	K596N	possibly damaging	Het
Smgc	A	G	15: 91,845,493 (GRCm38)	K217E	probably benign	Het
Socs7	C	A	11: 97,377,091 (GRCm38)	H349Q	possibly damaging	Het
Speer4f2	A	G	5: 17,376,542 (GRCm38)	T161A		Het
Spg11	T	C	2: 122,093,545 (GRCm38)		probably null	Het
Ssb	A	G	2: 69,863,280 (GRCm38)	T11A	probably benign	Het
Sun1	A	G	5: 139,246,834 (GRCm38)	S837G	probably damaging	Het
Szt2	A	C	4: 118,363,471 (GRCm38)	S3385A	unknown	Het
Tapbp	T	C	17: 33,920,417 (GRCm38)	V129A	possibly damaging	Het
Thsd1	T	C	8: 22,243,333 (GRCm38)	I132T	possibly damaging	Het
Tm6sf2	T	A	8: 70,077,939 (GRCm38)	V223E	possibly damaging	Het
Tm9sf4	T	A	2: 153,194,347 (GRCm38)	M343K	probably benign	Het
Tmem57	A	T	4: 134,828,279 (GRCm38)	N294K	possibly damaging	Het
Trank1	C	A	9: 111,366,349 (GRCm38)	P1147Q	probably benign	Het
Trip4	G	A	9: 65,866,475 (GRCm38)	T275M	probably damaging	Het
Tsen34	T	C	7: 3,695,835 (GRCm38)		probably null	Het
Ttc26	T	A	6: 38,404,487 (GRCm38)	Y319*	probably null	Het
Ttn	T	C	2: 76,850,078 (GRCm38)	E1086G	unknown	Het
Ubr4	A	T	4: 139,462,467 (GRCm38)	M853L	unknown	Het
Ubxn11	A	T	4: 134,125,155 (GRCm38)	R352W	probably damaging	Het
Vmn1r35	G	A	6: 66,679,235 (GRCm38)		probably benign	Het
Vmn2r107	C	T	17: 20,375,732 (GRCm38)	T849I	probably benign	Het
Vmn2r93	C	A	17: 18,325,986 (GRCm38)	L707I	probably benign	Het
Wwc1	G	A	11: 35,875,706 (GRCm38)	T574I	probably benign	Het
Zfp143	A	G	7: 110,070,498 (GRCm38)	M45V	probably benign	Het
Zfp518a	T	A	19: 40,914,157 (GRCm38)	N843K	possibly damaging	Het
Zfp87	A	T	13: 67,517,044 (GRCm38)	M433K	probably benign	Het
Zfp873	C	A	10: 82,060,627 (GRCm38)	H397Q	probably damaging	Het
Zscan21	A	T	5: 138,117,848 (GRCm38)		probably benign	Het

Other mutations in Camsap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Camsap2	APN	1	136,297,790 (GRCm38)	missense	probably benign	0.23
IGL02727:Camsap2	APN	1	136,304,312 (GRCm38)	missense	probably benign
IGL02803:Camsap2	APN	1	136,281,123 (GRCm38)	missense	probably damaging	1.00
IGL03037:Camsap2	APN	1	136,274,857 (GRCm38)	missense	probably damaging	1.00
IGL03124:Camsap2	APN	1	136,274,799 (GRCm38)	critical splice donor site	probably null
IGL03189:Camsap2	APN	1	136,281,662 (GRCm38)	missense	probably damaging	1.00
IGL03297:Camsap2	APN	1	136,297,801 (GRCm38)	missense	probably benign
IGL03347:Camsap2	APN	1	136,280,986 (GRCm38)	missense	possibly damaging	0.52
ANU23:Camsap2	UTSW	1	136,297,790 (GRCm38)	missense	probably benign	0.23
PIT4366001:Camsap2	UTSW	1	136,280,317 (GRCm38)	missense
R0001:Camsap2	UTSW	1	136,282,888 (GRCm38)	unclassified	probably benign
R0037:Camsap2	UTSW	1	136,281,892 (GRCm38)	missense	probably damaging	1.00
R0140:Camsap2	UTSW	1	136,280,382 (GRCm38)	missense	probably benign
R0194:Camsap2	UTSW	1	136,292,948 (GRCm38)	nonsense	probably null
R0206:Camsap2	UTSW	1	136,281,000 (GRCm38)	missense	probably damaging	1.00
R0208:Camsap2	UTSW	1	136,281,000 (GRCm38)	missense	probably damaging	1.00
R0517:Camsap2	UTSW	1	136,293,388 (GRCm38)	missense	possibly damaging	0.95
R0648:Camsap2	UTSW	1	136,304,319 (GRCm38)	missense	probably damaging	0.96
R0735:Camsap2	UTSW	1	136,292,888 (GRCm38)	missense	probably damaging	1.00
R0790:Camsap2	UTSW	1	136,273,737 (GRCm38)	splice site	probably benign
R0880:Camsap2	UTSW	1	136,280,970 (GRCm38)	missense	probably benign	0.08
R1559:Camsap2	UTSW	1	136,282,094 (GRCm38)	missense	probably benign	0.02
R1728:Camsap2	UTSW	1	136,281,315 (GRCm38)	missense	probably benign	0.00
R1729:Camsap2	UTSW	1	136,281,315 (GRCm38)	missense	probably benign	0.00
R1730:Camsap2	UTSW	1	136,281,315 (GRCm38)	missense	probably benign	0.00
R1739:Camsap2	UTSW	1	136,281,315 (GRCm38)	missense	probably benign	0.00
R1762:Camsap2	UTSW	1	136,281,315 (GRCm38)	missense	probably benign	0.00
R1783:Camsap2	UTSW	1	136,281,315 (GRCm38)	missense	probably benign	0.00
R1784:Camsap2	UTSW	1	136,281,315 (GRCm38)	missense	probably benign	0.00
R1785:Camsap2	UTSW	1	136,281,315 (GRCm38)	missense	probably benign	0.00
R1823:Camsap2	UTSW	1	136,273,783 (GRCm38)	missense	possibly damaging	0.65
R1824:Camsap2	UTSW	1	136,273,783 (GRCm38)	missense	possibly damaging	0.65
R1997:Camsap2	UTSW	1	136,271,545 (GRCm38)	missense	probably damaging	1.00
R2010:Camsap2	UTSW	1	136,274,868 (GRCm38)	missense	probably damaging	1.00
R2237:Camsap2	UTSW	1	136,345,331 (GRCm38)	missense	probably damaging	1.00
R2923:Camsap2	UTSW	1	136,280,809 (GRCm38)	missense	possibly damaging	0.95
R4275:Camsap2	UTSW	1	136,270,876 (GRCm38)	missense	probably benign	0.01
R4371:Camsap2	UTSW	1	136,287,963 (GRCm38)	missense	probably damaging	1.00
R4976:Camsap2	UTSW	1	136,304,386 (GRCm38)	missense	probably damaging	1.00
R5227:Camsap2	UTSW	1	136,274,891 (GRCm38)	intron	probably benign
R5513:Camsap2	UTSW	1	136,280,863 (GRCm38)	missense	probably benign	0.23
R5755:Camsap2	UTSW	1	136,282,327 (GRCm38)	missense	probably damaging	1.00
R5834:Camsap2	UTSW	1	136,280,388 (GRCm38)	missense	probably benign
R5966:Camsap2	UTSW	1	136,276,592 (GRCm38)	missense	probably damaging	1.00
R6031:Camsap2	UTSW	1	136,280,438 (GRCm38)	missense	possibly damaging	0.46
R6031:Camsap2	UTSW	1	136,280,438 (GRCm38)	missense	possibly damaging	0.46
R6111:Camsap2	UTSW	1	136,281,298 (GRCm38)	missense	probably benign
R6147:Camsap2	UTSW	1	136,345,400 (GRCm38)	missense	probably damaging	1.00
R6284:Camsap2	UTSW	1	136,304,437 (GRCm38)	missense	possibly damaging	0.63
R6293:Camsap2	UTSW	1	136,287,920 (GRCm38)	missense	probably damaging	1.00
R6306:Camsap2	UTSW	1	136,281,199 (GRCm38)	missense	probably benign
R6403:Camsap2	UTSW	1	136,280,800 (GRCm38)	nonsense	probably null
R6410:Camsap2	UTSW	1	136,345,444 (GRCm38)	start gained	probably benign
R6943:Camsap2	UTSW	1	136,304,449 (GRCm38)	missense	probably damaging	1.00
R7268:Camsap2	UTSW	1	136,273,745 (GRCm38)	splice site	probably null
R7472:Camsap2	UTSW	1	136,281,393 (GRCm38)	missense	probably damaging	0.96
R7478:Camsap2	UTSW	1	136,270,940 (GRCm38)	missense
R7515:Camsap2	UTSW	1	136,345,370 (GRCm38)	missense	probably damaging	0.99
R7691:Camsap2	UTSW	1	136,293,004 (GRCm38)	missense	probably damaging	0.99
R7800:Camsap2	UTSW	1	136,281,901 (GRCm38)	missense	probably damaging	0.99
R8040:Camsap2	UTSW	1	136,281,247 (GRCm38)	missense
R8188:Camsap2	UTSW	1	136,297,394 (GRCm38)	splice site	probably null
R8238:Camsap2	UTSW	1	136,294,026 (GRCm38)	missense	probably benign	0.03
R8258:Camsap2	UTSW	1	136,280,339 (GRCm38)	missense	probably benign	0.00
R8259:Camsap2	UTSW	1	136,280,339 (GRCm38)	missense	probably benign	0.00
R8537:Camsap2	UTSW	1	136,277,205 (GRCm38)	missense	probably damaging	0.99
R8782:Camsap2	UTSW	1	136,277,219 (GRCm38)	missense
R9301:Camsap2	UTSW	1	136,274,902 (GRCm38)	critical splice acceptor site	probably null
R9600:Camsap2	UTSW	1	136,277,198 (GRCm38)	missense
X0018:Camsap2	UTSW	1	136,276,575 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGGCATTCCAAACACTGTG -3'
(R):5'- TGTATACTTACTGCCCAGAAACTG -3'

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

Posted On

2019-10-07