Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Camsap3'

214679

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

039932-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R1914 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

3637293-3659075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3654708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 782 (R782C)

Ref Sequence

ENSEMBL: ENSMUSP00000146852 (fasta)

Gene Model

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

AlphaFold

Q80VC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057028
AA Change: R766C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: R766C

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

noncoding transcript
Transcript: ENSMUST00000163038

Predicted Effect

probably damaging
Transcript: ENSMUST00000171962
AA Change: R767C

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

SMART Domains

Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: R767C

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: R782C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207152

Predicted Effect

probably damaging
Transcript: ENSMUST00000207432
AA Change: R793C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000207533

Predicted Effect

probably damaging
Transcript: ENSMUST00000207970
AA Change: R777C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208064

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

Meta Mutation Damage Score

0.3178

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,386 (GRCm39)	V618E	possibly damaging	Het
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Akap12	G	A	10: 4,306,685 (GRCm39)	R1165H	probably benign	Het
Asxl1	T	C	2: 153,243,826 (GRCm39)	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,176,225 (GRCm39)	R1957C	probably damaging	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Capn15	C	A	17: 26,183,837 (GRCm39)	A215S	probably benign	Het
Casz1	T	C	4: 149,017,415 (GRCm39)	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,794,134 (GRCm39)		probably benign	Het
Cdh23	A	G	10: 60,159,349 (GRCm39)	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep104	T	C	4: 154,074,296 (GRCm39)	L516P	possibly damaging	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Diaph3	A	C	14: 86,893,921 (GRCm39)	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Ephb1	C	T	9: 101,806,577 (GRCm39)	C819Y	probably damaging	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988 (GRCm38)	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,609,537 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gas6	T	C	8: 13,527,152 (GRCm39)	T199A	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Grm4	A	T	17: 27,653,686 (GRCm39)	C755S	probably damaging	Het
Hdgfl2	A	G	17: 56,403,978 (GRCm39)	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,952,250 (GRCm39)	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Ing1	T	A	8: 11,611,577 (GRCm39)	V63E	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Klf5	T	C	14: 99,539,357 (GRCm39)	S177P	probably benign	Het
Lats1	T	A	10: 7,586,221 (GRCm39)		probably benign	Het
Lilrb4a	A	G	10: 51,368,045 (GRCm39)	I53M	probably benign	Het
Lrrc2	T	A	9: 110,810,007 (GRCm39)	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Med25	A	G	7: 44,534,046 (GRCm39)	S245P	probably benign	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Naip6	T	A	13: 100,435,936 (GRCm39)	E862D	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nyap2	T	C	1: 81,169,602 (GRCm39)	S120P	probably damaging	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Pappa2	A	T	1: 158,578,133 (GRCm39)	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,144,141 (GRCm39)		probably null	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rabggta	A	T	14: 55,958,646 (GRCm39)	F62L	possibly damaging	Het
Rasal3	G	A	17: 32,615,324 (GRCm39)	Q505*	probably null	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Scn9a	A	G	2: 66,396,594 (GRCm39)	F100L	probably damaging	Het
Siglece	A	G	7: 43,307,219 (GRCm39)	V256A	probably benign	Het
Slc23a2	A	T	2: 131,898,686 (GRCm39)	L617Q	probably damaging	Het
Snx9	T	C	17: 5,978,531 (GRCm39)	I567T	possibly damaging	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tbl1xr1	T	C	3: 22,245,074 (GRCm39)		probably benign	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,722,670 (GRCm39)	D105E	probably benign	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,499,286 (GRCm39)	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	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
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
R7316:Camsap3	UTSW	8	3,654,648 (GRCm39)	missense	possibly damaging	0.51
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'- TTACAATAGAGCAGTCAGTAAGCTG -3'
(R):5'- TCTCAATGAGGGCAGGCTTG -3'

Sequencing Primer
(F):5'- TAAGCTGAGTGCCGCTCTGAG -3'
(R):5'- AGGTGTCCCCTCCGACAG -3'

Posted On

2014-07-14