Mutagenetix > Incidental Mutation

Incidental Mutation 'R8259:Camsap2'

640414

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

067650-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R8259 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

136195861-136273842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136208077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 470 (D470E)

Gene Model

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

AlphaFold

Q8C1B1

Predicted Effect

probably benign
Transcript: ENSMUST00000048309
AA Change: D1144E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041920
Gene: ENSMUSG00000041570
AA Change: D1144E

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: D1127E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142166
Gene: ENSMUSG00000041570
AA Change: D1127E

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: D1138E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142299
Gene: ENSMUSG00000041570
AA Change: D1138E

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

probably benign
Transcript: ENSMUST00000194808
AA Change: D470E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,939,422 (GRCm39)	H272L	probably benign	Het
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adam34	G	A	8: 44,104,646 (GRCm39)	S333L	probably benign	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Aplf	T	C	6: 87,606,987 (GRCm39)	R476G	probably benign	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Birc6	A	G	17: 74,905,073 (GRCm39)	T1289A	probably benign	Het
Cacna1d	A	G	14: 29,773,475 (GRCm39)	S1759P	probably benign	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Clhc1	G	A	11: 29,503,746 (GRCm39)	R54Q	probably benign	Het
Cntnap3	T	A	13: 64,935,681 (GRCm39)	D394V	probably damaging	Het
Comp	A	G	8: 70,831,704 (GRCm39)	D441G	probably damaging	Het
Cyp20a1	G	A	1: 60,391,330 (GRCm39)		probably null	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Cyp2a12	C	T	7: 26,732,083 (GRCm39)	Q275*	probably null	Het
Dnhd1	A	T	7: 105,343,995 (GRCm39)	I1780L	probably benign	Het
Dpy19l2	A	G	9: 24,580,702 (GRCm39)	V213A	probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Ep300	A	G	15: 81,523,218 (GRCm39)	T1281A	unknown	Het
Ercc6l2	G	A	13: 64,020,285 (GRCm39)	E803K		Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Flnb	A	G	14: 7,889,183 (GRCm38)	Y511C	probably damaging	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Greb1	A	T	12: 16,774,925 (GRCm39)	C157*	probably null	Het
Grid2ip	A	G	5: 143,348,344 (GRCm39)	E145G	probably benign	Het
Hdac11	T	A	6: 91,149,210 (GRCm39)	V238E	probably damaging	Het
Herc2	A	G	7: 55,855,638 (GRCm39)	D3858G	probably damaging	Het
Hoxc4	A	G	15: 102,943,165 (GRCm39)	Y6C	probably damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nectin3	C	T	16: 46,256,754 (GRCm39)	R419Q	probably benign	Het
Nlrp4g	T	G	9: 124,353,392 (GRCm38)	Y579D	noncoding transcript	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or51e2	A	G	7: 102,392,034 (GRCm39)	Y59H	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Ren1	C	T	1: 133,278,534 (GRCm39)	R31*	probably null	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rpp14	T	G	14: 8,090,526 (GRCm38)	V150G	probably null	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Sbno1	A	T	5: 124,519,759 (GRCm39)	V1173E	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tcf20	A	C	15: 82,736,474 (GRCm39)	F1659C	probably damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Tmem87a	A	G	2: 120,227,928 (GRCm39)	F73S	possibly damaging	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Usp13	C	T	3: 32,971,748 (GRCm39)	Q743*	probably null	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	probably benign	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
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
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'- CTGGAATATGGTTTCAGGAGCCAG -3'
(R):5'- ATGAGGACCAACTGAGCCAG -3'

Sequencing Primer
(F):5'- CAGGAGCCAGTACTTAGTACTTCTG -3'
(R):5'- TGAGCCAGCCCACAGAG -3'

Posted On

2020-07-28