Mutagenetix > Incidental Mutation

Incidental Mutation 'R7316:Camsap3'

567972

Institutional Source

Beutler Lab

Gene Symbol

Camsap3

Ensembl Gene

ENSMUSG00000044433

Gene Name

calmodulin regulated spectrin-associated protein family, member 3

Synonyms

Nezha, 2310057J16Rik

MMRRC Submission

045413-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R7316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3637293-3659075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3654648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 773 (P773T)

Ref Sequence

ENSEMBL: ENSMUSP00000146896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057028] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207533] [ENSMUST00000207712] [ENSMUST00000207970] [ENSMUST00000208240]

AlphaFold

Q80VC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057028
AA Change: P746T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: P746T

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
Pfam:CH	166	315	5.5e-27	PFAM
Pfam:CAMSAP_CH	214	296	1.2e-29	PFAM
low complexity region	359	373	N/A	INTRINSIC
coiled coil region	595	633	N/A	INTRINSIC
low complexity region	645	655	N/A	INTRINSIC
coiled coil region	696	727	N/A	INTRINSIC
low complexity region	749	779	N/A	INTRINSIC
low complexity region	828	837	N/A	INTRINSIC
low complexity region	866	881	N/A	INTRINSIC
coiled coil region	900	943	N/A	INTRINSIC
low complexity region	944	965	N/A	INTRINSIC
low complexity region	1002	1024	N/A	INTRINSIC
CAMSAP_CKK	1111	1240	1.29e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171962
AA Change: P747T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: P747T

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
Pfam:CAMSAP_CH	214	296	6e-31	PFAM
low complexity region	360	374	N/A	INTRINSIC
Pfam:CAMSAP_CC1	587	645	1.1e-27	PFAM
low complexity region	646	656	N/A	INTRINSIC
coiled coil region	697	728	N/A	INTRINSIC
low complexity region	750	780	N/A	INTRINSIC
low complexity region	829	838	N/A	INTRINSIC
low complexity region	867	882	N/A	INTRINSIC
coiled coil region	901	944	N/A	INTRINSIC
low complexity region	945	966	N/A	INTRINSIC
low complexity region	1003	1025	N/A	INTRINSIC
CAMSAP_CKK	1112	1241	1.29e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207077
AA Change: P762T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207152

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207432
AA Change: P773T

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000207533

Predicted Effect

probably benign
Transcript: ENSMUST00000207712

Predicted Effect

probably damaging
Transcript: ENSMUST00000207970
AA Change: P757T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (93/94)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display variable penetrance of vascular, liver, nervous system, rib and eye abnormalities. Mice homozygous for an allele with loss of microtubule binding show partial lethality, decreased body size and abnormal alignment of microtubles in polarized epithelial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,969,020 (GRCm39)	M214I	probably benign	Het
Aadat	G	T	8: 60,979,668 (GRCm39)	G177C	probably damaging	Het
Adam4	T	C	12: 81,466,498 (GRCm39)	I708V	probably benign	Het
Aip	T	C	19: 4,164,793 (GRCm39)	N264S	probably benign	Het
Alox8	A	T	11: 69,077,064 (GRCm39)	D505E	probably benign	Het
Ap3d1	A	T	10: 80,553,693 (GRCm39)	I518N	probably damaging	Het
Arf3	G	A	15: 98,638,874 (GRCm39)	Q128*	probably null	Het
Asph	A	G	4: 9,537,746 (GRCm39)	V344A	probably benign	Het
Birc6	A	T	17: 74,911,489 (GRCm39)	R1500S	probably damaging	Het
Bptf	G	A	11: 106,963,935 (GRCm39)	T1753I	probably damaging	Het
Bptf	A	T	11: 107,001,740 (GRCm39)	C457*	probably null	Het
Brpf3	T	A	17: 29,033,660 (GRCm39)	I568N	probably damaging	Het
Btnl4	G	C	17: 34,688,031 (GRCm39)	N582K	probably benign	Het
Capsl	A	T	15: 9,461,888 (GRCm39)	I95L	probably benign	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cdan1	A	T	2: 120,558,813 (GRCm39)		probably null	Het
Chd3	A	T	11: 69,236,394 (GRCm39)	L1939Q	probably damaging	Het
Cngb3	A	T	4: 19,425,599 (GRCm39)	Y469F	probably benign	Het
Cp	T	C	3: 20,026,916 (GRCm39)	L448P	probably damaging	Het
Csnk1g2	T	C	10: 80,475,687 (GRCm39)	V418A	possibly damaging	Het
Dag1	A	T	9: 108,086,701 (GRCm39)	S147T	probably benign	Het
Dnajc25	T	A	4: 59,017,693 (GRCm39)	Y117*	probably null	Het
Dpysl2	A	T	14: 67,100,044 (GRCm39)	M64K	possibly damaging	Het
Dus3l	A	G	17: 57,072,551 (GRCm39)	H38R	possibly damaging	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Enox1	A	T	14: 77,958,298 (GRCm39)	M616L	probably benign	Het
Epb41l4b	T	A	4: 57,019,867 (GRCm39)	T708S	probably benign	Het
Fat2	A	T	11: 55,176,893 (GRCm39)	I1534N	probably damaging	Het
Fer1l5	A	G	1: 36,457,197 (GRCm39)	T1649A	probably benign	Het
Fmo9	A	G	1: 166,491,215 (GRCm39)	V421A	probably benign	Het
Fsip2	A	C	2: 82,820,035 (GRCm39)	Y5256S	possibly damaging	Het
Gapvd1	G	A	2: 34,594,681 (GRCm39)	L804F	probably damaging	Het
Garin1a	A	G	6: 29,286,101 (GRCm39)	M187V	probably benign	Het
Gen1	A	G	12: 11,291,470 (GRCm39)	V838A	probably benign	Het
Gnptab	A	T	10: 88,236,572 (GRCm39)	N59I	probably damaging	Het
Grm5	A	G	7: 87,624,473 (GRCm39)	T347A	probably benign	Het
Gsdmc3	T	C	15: 63,730,251 (GRCm39)	N438D	possibly damaging	Het
Hmcn1	A	G	1: 150,608,697 (GRCm39)	L1495S	probably damaging	Het
Ift70a1	A	T	2: 75,811,201 (GRCm39)	L294Q	probably damaging	Het
Islr2	T	C	9: 58,105,250 (GRCm39)	E714G	probably damaging	Het
Larp4	A	T	15: 99,898,898 (GRCm39)	M430L	probably benign	Het
Lpcat2b	A	G	5: 107,580,979 (GRCm39)	I103V	not run	Het
Lrguk	C	T	6: 34,080,191 (GRCm39)	S1142F	unknown	Het
Lrit2	G	T	14: 36,790,815 (GRCm39)	V165F	probably damaging	Het
Mast3	T	A	8: 71,232,432 (GRCm39)	I1182F	probably damaging	Het
Mcm6	C	T	1: 128,287,245 (GRCm39)	D20N	probably damaging	Het
Mief1	A	G	15: 80,133,598 (GRCm39)	I218M	probably damaging	Het
Mmp2	A	G	8: 93,567,038 (GRCm39)	T453A	probably benign	Het
Ms4a18	T	A	19: 10,979,360 (GRCm39)	S219C	probably damaging	Het
Myo5c	A	T	9: 75,176,920 (GRCm39)	T622S	probably benign	Het
Neb	A	T	2: 52,161,450 (GRCm39)	M2114K	possibly damaging	Het
Nemp1	T	A	10: 127,525,212 (GRCm39)	L122*	probably null	Het
Nkx2-1	T	C	12: 56,581,583 (GRCm39)	N88S	probably benign	Het
Nr2c2	T	A	6: 92,131,444 (GRCm39)	C202S	probably damaging	Het
Ntsr1	A	C	2: 180,142,545 (GRCm39)	D112A	probably damaging	Het
Or14j3	A	G	17: 37,901,026 (GRCm39)	S73P	probably damaging	Het
Or56a41	A	T	7: 104,740,107 (GRCm39)	H246Q	probably damaging	Het
Or6n2	A	T	1: 173,897,727 (GRCm39)	I288F	probably benign	Het
Osbp2	C	A	11: 3,676,431 (GRCm39)	R73L	probably damaging	Het
Pbp2	T	A	6: 135,286,830 (GRCm39)	E172D	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,501 (GRCm39)	I634T	probably benign	Het
Pcnx1	T	C	12: 82,042,323 (GRCm39)	S38P	probably benign	Het
Phyh	A	T	2: 4,940,855 (GRCm39)	K252*	probably null	Het
Plcb3	C	T	19: 6,943,753 (GRCm39)		probably null	Het
Ppargc1b	T	C	18: 61,440,909 (GRCm39)	S670G	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprc	T	C	1: 137,992,509 (GRCm39)	Y1067C	probably damaging	Het
Pwwp2b	A	C	7: 138,836,140 (GRCm39)	E527A	probably benign	Het
Pzp	T	C	6: 128,490,736 (GRCm39)	D409G	probably damaging	Het
Rbfox2	A	T	15: 77,016,929 (GRCm39)	N148K	possibly damaging	Het
Resf1	T	C	6: 149,228,136 (GRCm39)	L394P	probably damaging	Het
Rps24	T	C	14: 24,540,757 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,862,584 (GRCm39)	K202E	probably damaging	Het
Spata7	C	T	12: 98,624,871 (GRCm39)	R258W	probably damaging	Het
Spen	A	T	4: 141,204,365 (GRCm39)	S1421T	unknown	Het
Svep1	T	A	4: 58,068,763 (GRCm39)	I3008F	possibly damaging	Het
Tbc1d1	G	T	5: 64,492,620 (GRCm39)		probably null	Het
Thsd4	T	A	9: 59,894,642 (GRCm39)	H772L	probably benign	Het
Tle1	T	C	4: 72,036,529 (GRCm39)	I769V	probably benign	Het
Tm4sf19	T	A	16: 32,226,466 (GRCm39)	S127T	possibly damaging	Het
Tmprss9	C	A	10: 80,730,813 (GRCm39)	R780S	probably benign	Het
Tpp2	T	C	1: 44,009,591 (GRCm39)	V475A	probably benign	Het
Ttn	A	G	2: 76,692,509 (GRCm39)	V471A		Het
Ttn	A	T	2: 76,597,257 (GRCm39)	N19885K	probably damaging	Het
Tub	A	T	7: 108,629,378 (GRCm39)	T478S	possibly damaging	Het
Ube2q2l	T	C	6: 136,378,276 (GRCm39)	K185E	possibly damaging	Het
Vmn2r88	A	T	14: 51,651,712 (GRCm39)	Y342F		Het
Wdr18	C	A	10: 79,801,059 (GRCm39)	D157E	probably benign	Het
Xrra1	A	T	7: 99,525,423 (GRCm39)		probably null	Het
Zc3h4	G	C	7: 16,169,260 (GRCm39)	G1198A	unknown	Het
Zfp568	A	T	7: 29,721,681 (GRCm39)	I209F	possibly damaging	Het
Zfp787	C	A	7: 6,158,523 (GRCm39)		probably benign	Het
Zfp974	A	T	7: 27,609,863 (GRCm39)	Y621N	possibly damaging	Het
Zyg11b	A	G	4: 108,107,699 (GRCm39)	I493T	possibly damaging	Het

Other mutations in Camsap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Camsap3	APN	8	3,652,077 (GRCm39)	missense	probably damaging	1.00
IGL00797:Camsap3	APN	8	3,652,115 (GRCm39)	splice site	probably benign
IGL01457:Camsap3	APN	8	3,654,795 (GRCm39)	missense	probably damaging	0.98
IGL01833:Camsap3	APN	8	3,658,508 (GRCm39)	missense	probably damaging	1.00
IGL02095:Camsap3	APN	8	3,653,845 (GRCm39)	missense	probably damaging	1.00
IGL02880:Camsap3	APN	8	3,653,913 (GRCm39)	missense	probably damaging	1.00
R0005:Camsap3	UTSW	8	3,654,288 (GRCm39)	missense	probably damaging	1.00
R0049:Camsap3	UTSW	8	3,648,772 (GRCm39)	missense	probably benign	0.11
R0049:Camsap3	UTSW	8	3,648,772 (GRCm39)	missense	probably benign	0.11
R0347:Camsap3	UTSW	8	3,652,029 (GRCm39)	missense	probably damaging	1.00
R0926:Camsap3	UTSW	8	3,637,960 (GRCm39)	critical splice donor site	probably null
R0946:Camsap3	UTSW	8	3,654,442 (GRCm39)	missense	probably benign	0.00
R1169:Camsap3	UTSW	8	3,653,866 (GRCm39)	missense	probably damaging	1.00
R1206:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1207:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1207:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1454:Camsap3	UTSW	8	3,653,968 (GRCm39)	missense	possibly damaging	0.58
R1475:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1581:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1618:Camsap3	UTSW	8	3,648,740 (GRCm39)	missense	probably benign	0.25
R1820:Camsap3	UTSW	8	3,653,485 (GRCm39)	missense	probably damaging	1.00
R1899:Camsap3	UTSW	8	3,653,922 (GRCm39)	nonsense	probably null
R1914:Camsap3	UTSW	8	3,654,708 (GRCm39)	missense	probably damaging	1.00
R1952:Camsap3	UTSW	8	3,654,789 (GRCm39)	missense	probably damaging	0.99
R2338:Camsap3	UTSW	8	3,656,808 (GRCm39)	missense	probably damaging	1.00
R3725:Camsap3	UTSW	8	3,653,785 (GRCm39)	missense	probably damaging	1.00
R3726:Camsap3	UTSW	8	3,653,785 (GRCm39)	missense	probably damaging	1.00
R4528:Camsap3	UTSW	8	3,656,515 (GRCm39)	missense	possibly damaging	0.79
R4652:Camsap3	UTSW	8	3,650,689 (GRCm39)	missense	possibly damaging	0.87
R5025:Camsap3	UTSW	8	3,654,244 (GRCm39)	missense	probably damaging	1.00
R5120:Camsap3	UTSW	8	3,650,680 (GRCm39)	missense	probably damaging	0.97
R5381:Camsap3	UTSW	8	3,653,812 (GRCm39)	missense	probably damaging	1.00
R5388:Camsap3	UTSW	8	3,654,276 (GRCm39)	missense	probably damaging	1.00
R5829:Camsap3	UTSW	8	3,647,899 (GRCm39)	missense	probably damaging	1.00
R5846:Camsap3	UTSW	8	3,653,980 (GRCm39)	missense	probably damaging	1.00
R5935:Camsap3	UTSW	8	3,651,999 (GRCm39)	missense	probably damaging	1.00
R6363:Camsap3	UTSW	8	3,651,971 (GRCm39)	missense	probably damaging	1.00
R6469:Camsap3	UTSW	8	3,653,941 (GRCm39)	missense	possibly damaging	0.79
R6595:Camsap3	UTSW	8	3,658,742 (GRCm39)	missense	probably damaging	1.00
R6595:Camsap3	UTSW	8	3,654,186 (GRCm39)	missense	probably damaging	1.00
R7024:Camsap3	UTSW	8	3,658,242 (GRCm39)	missense	probably damaging	0.98
R7062:Camsap3	UTSW	8	3,657,834 (GRCm39)	unclassified	probably benign
R7109:Camsap3	UTSW	8	3,648,087 (GRCm39)	missense	possibly damaging	0.53
R7233:Camsap3	UTSW	8	3,650,371 (GRCm39)	missense	probably damaging	0.99
R7236:Camsap3	UTSW	8	3,654,116 (GRCm39)	missense	probably damaging	1.00
R7340:Camsap3	UTSW	8	3,637,960 (GRCm39)	critical splice donor site	probably null
R7512:Camsap3	UTSW	8	3,648,740 (GRCm39)	missense	probably benign	0.25
R7779:Camsap3	UTSW	8	3,647,887 (GRCm39)	missense	probably damaging	1.00
R8134:Camsap3	UTSW	8	3,648,075 (GRCm39)	missense	probably benign	0.00
R8356:Camsap3	UTSW	8	3,650,679 (GRCm39)	nonsense	probably null
R8456:Camsap3	UTSW	8	3,650,679 (GRCm39)	nonsense	probably null
R8696:Camsap3	UTSW	8	3,653,614 (GRCm39)	missense	probably damaging	1.00
R8804:Camsap3	UTSW	8	3,652,624 (GRCm39)	missense	probably benign	0.14
R9022:Camsap3	UTSW	8	3,656,575 (GRCm39)	missense	probably benign	0.08
R9380:Camsap3	UTSW	8	3,653,999 (GRCm39)	missense	probably benign	0.09
R9706:Camsap3	UTSW	8	3,658,689 (GRCm39)	missense	possibly damaging	0.92
Z1192:Camsap3	UTSW	8	3,654,124 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTACGGCACAAGTCAGTTACC -3'
(R):5'- TGAGGGAGGCTGTCTACATC -3'

Sequencing Primer
(F):5'- ACGGCACAAGTCAGTTACCTTCTC -3'
(R):5'- AGGCTGTCTACATCATGGGG -3'

Posted On

2019-06-26