Mutagenetix > Incidental Mutation

Incidental Mutation 'R9380:Camsap3'

709940

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R9380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3637293-3659075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3653999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 556 (K556N)

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: K529N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433
AA Change: K529N

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: K530N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433
AA Change: K530N

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: K545N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207152

Predicted Effect

probably benign
Transcript: ENSMUST00000207432
AA Change: K556N

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000207533

Predicted Effect

probably benign
Transcript: ENSMUST00000207712

Predicted Effect

probably damaging
Transcript: ENSMUST00000207970
AA Change: K540N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000208240

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	G	1: 78,659,602 (GRCm39)	C85G	possibly damaging	Het
Alox12e	A	T	11: 70,206,994 (GRCm39)		probably null	Het
Aoc1l2	T	C	6: 48,910,064 (GRCm39)	I667T	probably damaging	Het
Asb10	A	C	5: 24,739,103 (GRCm39)		probably null	Het
B3galt9	G	A	2: 34,729,029 (GRCm39)	C276Y	probably damaging	Het
Bcl2a1d	G	A	9: 88,613,935 (GRCm39)		probably benign	Het
Cd300lf	T	A	11: 115,015,153 (GRCm39)	T146S	probably benign	Het
Chuk	C	A	19: 44,062,958 (GRCm39)	A744S	unknown	Het
Clint1	A	T	11: 45,742,988 (GRCm39)	M4L	probably benign	Het
Cnot4	T	C	6: 35,029,865 (GRCm39)	I344M	possibly damaging	Het
Cpne1	T	C	2: 155,920,721 (GRCm39)	D135G	probably benign	Het
Csgalnact2	C	A	6: 118,105,840 (GRCm39)	L159F	probably damaging	Het
Dnai2	T	C	11: 114,635,989 (GRCm39)	F325L	probably benign	Het
Dnal4	G	A	15: 79,647,790 (GRCm39)	S25L	possibly damaging	Het
Ep300	T	C	15: 81,500,245 (GRCm39)	M515T	unknown	Het
Ewsr1	T	C	11: 5,043,730 (GRCm39)	Y18C	possibly damaging	Het
Fam25a	T	C	14: 34,073,957 (GRCm39)	T72A	possibly damaging	Het
Flii	T	C	11: 60,606,297 (GRCm39)	Y1131C	probably benign	Het
Foxj1	C	T	11: 116,222,547 (GRCm39)	A419T	possibly damaging	Het
Fsd1l	A	G	4: 53,693,991 (GRCm39)	T323A	possibly damaging	Het
Furin	T	C	7: 80,041,506 (GRCm39)	I551V	probably benign	Het
Gbp11	A	G	5: 105,475,202 (GRCm39)	V382A	probably benign	Het
Gfod1	A	C	13: 43,354,320 (GRCm39)	D218E	probably damaging	Het
Glp2r	A	T	11: 67,637,572 (GRCm39)	I153N	possibly damaging	Het
Gm11214	G	T	4: 63,580,850 (GRCm39)	P100T	possibly damaging	Het
Gne	A	T	4: 44,066,807 (GRCm39)	F69I	probably benign	Het
Hsd3b2	T	C	3: 98,619,453 (GRCm39)	K164R	probably damaging	Het
Hspa1b	T	C	17: 35,177,170 (GRCm39)	R272G	probably damaging	Het
Hydin	C	A	8: 111,290,504 (GRCm39)	T3321N	probably benign	Het
Impg1	A	T	9: 80,289,077 (GRCm39)	S327T	probably benign	Het
Izumo2	T	C	7: 44,364,812 (GRCm39)	V159A	probably benign	Het
Kat6b	T	C	14: 21,678,926 (GRCm39)	S430P	probably damaging	Het
Kcnj9	T	A	1: 172,153,447 (GRCm39)	T226S	probably benign	Het
Kl	T	A	5: 150,912,342 (GRCm39)	M697K	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,928,331 (GRCm39)	P1266S	probably damaging	Het
Med13	A	T	11: 86,177,598 (GRCm39)	N1499K	probably benign	Het
Mybbp1a	A	G	11: 72,333,668 (GRCm39)	I182V	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nin	A	G	12: 70,074,805 (GRCm39)	L1859P		Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Or2y10	A	G	11: 49,454,904 (GRCm39)	D52G	possibly damaging	Het
Or4a67	A	T	2: 88,598,530 (GRCm39)	I43N	probably damaging	Het
Or4k1	C	A	14: 50,377,770 (GRCm39)	G109W	probably damaging	Het
Or8b50	A	G	9: 38,518,415 (GRCm39)	Y218C	probably damaging	Het
Osbpl8	T	A	10: 111,108,980 (GRCm39)	S421T	probably damaging	Het
Paqr7	A	G	4: 134,234,350 (GRCm39)	N69S	probably damaging	Het
Pcare	A	T	17: 72,056,351 (GRCm39)	S1109T	possibly damaging	Het
Pdgfrb	G	A	18: 61,197,920 (GRCm39)	G231D	probably damaging	Het
Pip5k1b	A	G	19: 24,356,417 (GRCm39)	Y174H	probably damaging	Het
Pkd1	T	A	17: 24,769,262 (GRCm39)	L9Q	unknown	Het
Psmg4	A	T	13: 34,350,080 (GRCm39)	T71S	probably benign	Het
Ptpn23	A	G	9: 110,221,581 (GRCm39)	I173T	possibly damaging	Het
Qser1	G	A	2: 104,619,691 (GRCm39)	Q284*	probably null	Het
Rcc2	G	T	4: 140,429,702 (GRCm39)	A79S	probably benign	Het
Rgl3	G	T	9: 21,888,123 (GRCm39)	Q464K	probably damaging	Het
Rhov	C	A	2: 119,100,604 (GRCm39)	R211L	probably benign	Het
Rp1l1	A	G	14: 64,266,475 (GRCm39)	D687G	probably benign	Het
Selenbp2	A	G	3: 94,609,654 (GRCm39)	I291V	probably benign	Het
Sh3glb2	A	T	2: 30,238,625 (GRCm39)	V189E	probably damaging	Het
Slc46a2	A	G	4: 59,913,867 (GRCm39)	I352T	probably damaging	Het
Sucla2	T	A	14: 73,828,312 (GRCm39)	N306K	probably benign	Het
Suco	A	G	1: 161,646,074 (GRCm39)	V1209A	possibly damaging	Het
Tacc2	T	A	7: 130,226,771 (GRCm39)	L1152Q	possibly damaging	Het
Tanc1	A	T	2: 59,665,796 (GRCm39)	K1185M	probably damaging	Het
Tas2r114	A	G	6: 131,666,381 (GRCm39)	F216L	probably benign	Het
Tead1	A	T	7: 112,441,105 (GRCm39)	H78L	possibly damaging	Het
Tex12	T	C	9: 50,469,586 (GRCm39)	I64V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Trank1	A	G	9: 111,221,738 (GRCm39)	E2825G	probably benign	Het
Trappc13	T	A	13: 104,280,707 (GRCm39)	Y399F	probably damaging	Het
Trim21	T	C	7: 102,212,992 (GRCm39)	D102G	probably damaging	Het
Trim27	G	T	13: 21,364,680 (GRCm39)	V6L	probably benign	Het
Trim55	A	G	3: 19,728,559 (GRCm39)	T457A	probably benign	Het
Trrap	A	G	5: 144,769,981 (GRCm39)	E2716G	probably benign	Het
Usp10	T	G	8: 120,682,943 (GRCm39)	L712R	probably damaging	Het
Vldlr	T	A	19: 27,216,192 (GRCm39)	C338S	possibly damaging	Het
Zfp946	A	G	17: 22,673,680 (GRCm39)	I145V	probably benign	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
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
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'- TCATTCACAGTGCTGAGCCC -3'
(R):5'- ATCTCTGAGCTCAAGGCCTCAG -3'

Sequencing Primer
(F):5'- CCCGACTGCTCCCTGATG -3'
(R):5'- TCAAGGCCTCAGGTGCTAC -3'

Posted On

2022-04-18