Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Cc2d2a'

515309

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

044530-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43819715-43898317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43873118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 983 (R983L)

Ref Sequence

ENSEMBL: ENSMUSP00000048320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048150] [ENSMUST00000125866]

AlphaFold

Q8CFW7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048150
AA Change: R983L

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: R983L

Domain	Start	End	E-Value	Type
low complexity region	26	41	N/A	INTRINSIC
low complexity region	58	67	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
low complexity region	203	217	N/A	INTRINSIC
coiled coil region	472	501	N/A	INTRINSIC
coiled coil region	553	582	N/A	INTRINSIC
Pfam:CC2D2AN-C2	645	817	2e-36	PFAM
low complexity region	1005	1017	N/A	INTRINSIC
low complexity region	1024	1036	N/A	INTRINSIC
C2	1048	1208	3.43e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125866
AA Change: R934L

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: R934L

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
low complexity region	75	87	N/A	INTRINSIC
low complexity region	154	168	N/A	INTRINSIC
coiled coil region	423	452	N/A	INTRINSIC
coiled coil region	504	533	N/A	INTRINSIC
Pfam:CC2D2AN-C2	596	768	7.7e-44	PFAM
low complexity region	970	982	N/A	INTRINSIC
C2	994	1154	2.3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127355

Meta Mutation Damage Score

0.7460

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with multiorgan defects related to cilia biogenesis. Homozygotes for a gene trap allele show randomized body axis, holoprosencephaly, and microphthalmia. Homozygotes for an ENU-induced allele show heterotaxia, congenital heart anomalies, kidney and eye defects, polydactyly, and cleft palate. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, other(4) Gene trapped(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,788 (GRCm39)	M365L	probably damaging	Het
Aars2	A	G	17: 45,829,471 (GRCm39)	E786G	probably benign	Het
Adamts12	G	T	15: 11,257,080 (GRCm39)	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,624,183 (GRCm39)	D12E	probably damaging	Het
Aplf	A	T	6: 87,635,959 (GRCm39)	M118K	probably damaging	Het
Apobec1	A	G	6: 122,555,890 (GRCm39)	L189P	probably damaging	Het
BC061237	A	G	14: 44,741,713 (GRCm39)	Q152R	possibly damaging	Het
Bche	A	G	3: 73,609,132 (GRCm39)	I98T	probably benign	Het
Ccnd3	T	C	17: 47,816,149 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,944,435 (GRCm39)	C215F	probably damaging	Het
Cep97	C	T	16: 55,742,534 (GRCm39)	A138T	probably damaging	Het
Ces1e	T	A	8: 93,944,206 (GRCm39)	N204I	probably damaging	Het
Dicer1	T	C	12: 104,662,721 (GRCm39)	D1620G	probably benign	Het
Dnah17	A	G	11: 118,020,011 (GRCm39)	V12A	probably benign	Het
Dstyk	T	A	1: 132,384,503 (GRCm39)		probably null	Het
Elapor1	T	C	3: 108,389,130 (GRCm39)	K222E	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Entr1	A	G	2: 26,275,093 (GRCm39)		probably null	Het
Gm10570	G	T	4: 130,202,021 (GRCm39)		probably benign	Het
Gm7145	C	T	1: 117,913,669 (GRCm39)	Q184*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,746,349 (GRCm39)	R55H	probably benign	Het
Hdac4	G	T	1: 91,912,247 (GRCm39)	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,589,871 (GRCm39)	I349T	probably benign	Het
Inpp5a	A	T	7: 138,980,589 (GRCm39)	D9V	probably benign	Het
Irs1	T	C	1: 82,265,405 (GRCm39)	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,125,317 (GRCm39)	M17T	probably benign	Het
Lipa	T	A	19: 34,502,146 (GRCm39)	M33L	probably benign	Het
Marchf6	G	T	15: 31,467,838 (GRCm39)	Q790K	probably benign	Het
Mccc1	G	A	3: 36,030,876 (GRCm39)	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,202,138 (GRCm39)	I196V	probably benign	Het
Myh15	T	A	16: 48,921,844 (GRCm39)	S463R	probably damaging	Het
Nab2	T	C	10: 127,500,220 (GRCm39)	K291E	probably damaging	Het
Neto2	T	C	8: 86,369,138 (GRCm39)	T294A	probably damaging	Het
Nkx1-1	T	C	5: 33,591,320 (GRCm39)	M1V	probably null	Het
Or2h2	C	T	17: 37,396,977 (GRCm39)	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Psmd2	A	G	16: 20,474,023 (GRCm39)	E242G	probably benign	Het
Rnase12	A	C	14: 51,294,551 (GRCm39)	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,369,016 (GRCm39)	F58I	probably damaging	Het
Ryr1	T	G	7: 28,774,682 (GRCm39)	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,211,137 (GRCm39)	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,366,722 (GRCm39)	S640G	probably benign	Het
Sdr9c7	T	A	10: 127,739,542 (GRCm39)	M219K	probably benign	Het
Soat1	A	T	1: 156,263,373 (GRCm39)	M392K	probably damaging	Het
Spata18	G	T	5: 73,832,559 (GRCm39)	K337N	probably damaging	Het
Supt16	A	G	14: 52,417,003 (GRCm39)	V325A	probably benign	Het
Syt2	A	G	1: 134,674,588 (GRCm39)	E342G	probably damaging	Het
Tars2	A	T	3: 95,661,799 (GRCm39)	L37*	probably null	Het
Tep1	T	C	14: 51,082,888 (GRCm39)	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,682,426 (GRCm39)	S613C	probably null	Het
Top3a	C	T	11: 60,634,849 (GRCm39)	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,591,543 (GRCm39)	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,078,242 (GRCm39)	N72S	probably benign	Het
Whrn	G	A	4: 63,390,921 (GRCm39)	T269I	probably benign	Het
Zfp759	T	A	13: 67,286,969 (GRCm39)	Y173*	probably null	Het

Other mutations in Cc2d2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cc2d2a	APN	5	43,881,722 (GRCm39)	splice site	probably benign
IGL00937:Cc2d2a	APN	5	43,845,464 (GRCm39)	critical splice acceptor site	probably null
IGL01322:Cc2d2a	APN	5	43,846,345 (GRCm39)	missense	probably benign	0.00
IGL01349:Cc2d2a	APN	5	43,881,126 (GRCm39)	missense	probably benign	0.01
IGL01448:Cc2d2a	APN	5	43,841,527 (GRCm39)	missense	possibly damaging	0.65
IGL01871:Cc2d2a	APN	5	43,846,311 (GRCm39)	missense	probably damaging	0.98
IGL01947:Cc2d2a	APN	5	43,845,579 (GRCm39)	missense	probably damaging	0.96
IGL01976:Cc2d2a	APN	5	43,840,457 (GRCm39)	missense	probably benign	0.02
IGL02113:Cc2d2a	APN	5	43,842,590 (GRCm39)	splice site	probably null
IGL02364:Cc2d2a	APN	5	43,892,792 (GRCm39)	missense	probably damaging	1.00
IGL02448:Cc2d2a	APN	5	43,840,547 (GRCm39)	splice site	probably benign
IGL02458:Cc2d2a	APN	5	43,875,896 (GRCm39)	missense	probably benign	0.01
IGL02542:Cc2d2a	APN	5	43,846,252 (GRCm39)	splice site	probably benign
IGL02834:Cc2d2a	APN	5	43,871,863 (GRCm39)	nonsense	probably null
IGL02940:Cc2d2a	APN	5	43,885,636 (GRCm39)	splice site	probably null
IGL03003:Cc2d2a	APN	5	43,828,608 (GRCm39)	missense	probably benign	0.22
IGL03183:Cc2d2a	APN	5	43,889,721 (GRCm39)	missense	probably damaging	1.00
C9142:Cc2d2a	UTSW	5	43,892,799 (GRCm39)	splice site	probably benign
P0028:Cc2d2a	UTSW	5	43,841,541 (GRCm39)	missense	probably benign
R0193:Cc2d2a	UTSW	5	43,893,460 (GRCm39)	missense	probably damaging	1.00
R0201:Cc2d2a	UTSW	5	43,894,854 (GRCm39)	missense	probably damaging	1.00
R0211:Cc2d2a	UTSW	5	43,845,608 (GRCm39)	splice site	probably null
R0243:Cc2d2a	UTSW	5	43,853,980 (GRCm39)	splice site	probably benign
R0317:Cc2d2a	UTSW	5	43,864,243 (GRCm39)	critical splice donor site	probably null
R0453:Cc2d2a	UTSW	5	43,860,636 (GRCm39)	missense	probably benign	0.00
R0558:Cc2d2a	UTSW	5	43,881,729 (GRCm39)	splice site	probably benign
R0624:Cc2d2a	UTSW	5	43,887,371 (GRCm39)	missense	probably benign
R0634:Cc2d2a	UTSW	5	43,838,723 (GRCm39)	splice site	probably benign
R1503:Cc2d2a	UTSW	5	43,852,581 (GRCm39)	missense	probably damaging	1.00
R1635:Cc2d2a	UTSW	5	43,879,812 (GRCm39)	missense	probably damaging	1.00
R1686:Cc2d2a	UTSW	5	43,896,713 (GRCm39)	missense	possibly damaging	0.81
R1707:Cc2d2a	UTSW	5	43,881,030 (GRCm39)	splice site	probably null
R1715:Cc2d2a	UTSW	5	43,876,003 (GRCm39)	missense	probably damaging	0.97
R1765:Cc2d2a	UTSW	5	43,871,873 (GRCm39)	missense	probably damaging	0.99
R1794:Cc2d2a	UTSW	5	43,845,594 (GRCm39)	missense	probably damaging	1.00
R1881:Cc2d2a	UTSW	5	43,898,170 (GRCm39)	missense	probably damaging	0.99
R1917:Cc2d2a	UTSW	5	43,863,564 (GRCm39)	missense	probably damaging	1.00
R2005:Cc2d2a	UTSW	5	43,883,715 (GRCm39)	critical splice donor site	probably null
R2201:Cc2d2a	UTSW	5	43,841,375 (GRCm39)	splice site	probably benign
R2244:Cc2d2a	UTSW	5	43,889,775 (GRCm39)	missense	probably damaging	1.00
R2368:Cc2d2a	UTSW	5	43,861,230 (GRCm39)	missense	probably benign
R2442:Cc2d2a	UTSW	5	43,828,647 (GRCm39)	critical splice donor site	probably null
R2511:Cc2d2a	UTSW	5	43,892,737 (GRCm39)	missense	probably damaging	0.99
R3023:Cc2d2a	UTSW	5	43,842,593 (GRCm39)	splice site	probably null
R3147:Cc2d2a	UTSW	5	43,866,497 (GRCm39)	missense	probably damaging	1.00
R3148:Cc2d2a	UTSW	5	43,866,497 (GRCm39)	missense	probably damaging	1.00
R3426:Cc2d2a	UTSW	5	43,893,451 (GRCm39)	missense	probably benign	0.00
R3609:Cc2d2a	UTSW	5	43,869,668 (GRCm39)	missense	probably damaging	0.99
R3610:Cc2d2a	UTSW	5	43,869,668 (GRCm39)	missense	probably damaging	0.99
R3611:Cc2d2a	UTSW	5	43,869,668 (GRCm39)	missense	probably damaging	0.99
R3839:Cc2d2a	UTSW	5	43,876,056 (GRCm39)	missense	probably benign
R3870:Cc2d2a	UTSW	5	43,876,033 (GRCm39)	nonsense	probably null
R4334:Cc2d2a	UTSW	5	43,840,476 (GRCm39)	missense	probably benign	0.00
R4913:Cc2d2a	UTSW	5	43,896,665 (GRCm39)	missense	probably benign	0.12
R5179:Cc2d2a	UTSW	5	43,845,563 (GRCm39)	missense	possibly damaging	0.82
R5315:Cc2d2a	UTSW	5	43,877,775 (GRCm39)	missense	probably damaging	0.99
R5352:Cc2d2a	UTSW	5	43,863,555 (GRCm39)	missense	probably damaging	1.00
R5386:Cc2d2a	UTSW	5	43,887,383 (GRCm39)	missense	probably benign	0.01
R5538:Cc2d2a	UTSW	5	43,852,518 (GRCm39)	missense	possibly damaging	0.94
R5568:Cc2d2a	UTSW	5	43,866,433 (GRCm39)	missense	probably damaging	0.99
R5618:Cc2d2a	UTSW	5	43,887,249 (GRCm39)	missense	probably benign	0.00
R5653:Cc2d2a	UTSW	5	43,879,804 (GRCm39)	missense	possibly damaging	0.81
R5817:Cc2d2a	UTSW	5	43,869,760 (GRCm39)	missense	probably damaging	1.00
R5858:Cc2d2a	UTSW	5	43,873,117 (GRCm39)	missense	probably damaging	1.00
R5905:Cc2d2a	UTSW	5	43,869,768 (GRCm39)	missense	probably benign
R5912:Cc2d2a	UTSW	5	43,877,772 (GRCm39)	missense	probably damaging	0.97
R6073:Cc2d2a	UTSW	5	43,887,317 (GRCm39)	missense	probably damaging	1.00
R6084:Cc2d2a	UTSW	5	43,826,015 (GRCm39)	missense	probably benign
R6142:Cc2d2a	UTSW	5	43,860,540 (GRCm39)	missense	probably damaging	0.97
R6176:Cc2d2a	UTSW	5	43,866,455 (GRCm39)	missense	probably benign	0.32
R6238:Cc2d2a	UTSW	5	43,828,577 (GRCm39)	missense	probably benign	0.11
R6404:Cc2d2a	UTSW	5	43,861,416 (GRCm39)	missense	possibly damaging	0.58
R6455:Cc2d2a	UTSW	5	43,896,754 (GRCm39)	missense	possibly damaging	0.69
R6695:Cc2d2a	UTSW	5	43,876,019 (GRCm39)	missense	probably damaging	0.99
R6805:Cc2d2a	UTSW	5	43,838,673 (GRCm39)	missense	probably damaging	1.00
R6919:Cc2d2a	UTSW	5	43,860,557 (GRCm39)	missense	probably benign	0.19
R6970:Cc2d2a	UTSW	5	43,875,927 (GRCm39)	missense	probably damaging	1.00
R7024:Cc2d2a	UTSW	5	43,891,271 (GRCm39)	missense	probably benign	0.10
R7054:Cc2d2a	UTSW	5	43,857,321 (GRCm39)	nonsense	probably null
R7071:Cc2d2a	UTSW	5	43,866,455 (GRCm39)	missense	probably benign	0.13
R7098:Cc2d2a	UTSW	5	43,840,481 (GRCm39)	missense	probably benign	0.00
R7366:Cc2d2a	UTSW	5	43,887,332 (GRCm39)	missense	probably damaging	1.00
R7908:Cc2d2a	UTSW	5	43,864,188 (GRCm39)	missense	probably benign	0.00
R7920:Cc2d2a	UTSW	5	43,896,651 (GRCm39)	missense	probably benign	0.09
R7950:Cc2d2a	UTSW	5	43,852,638 (GRCm39)	critical splice donor site	probably null
R8007:Cc2d2a	UTSW	5	43,863,442 (GRCm39)	missense	possibly damaging	0.71
R8117:Cc2d2a	UTSW	5	43,869,781 (GRCm39)	missense	probably damaging	1.00
R8123:Cc2d2a	UTSW	5	43,867,896 (GRCm39)	missense	probably benign
R8179:Cc2d2a	UTSW	5	43,857,295 (GRCm39)	missense	probably damaging	0.96
R8279:Cc2d2a	UTSW	5	43,893,487 (GRCm39)	missense	probably benign	0.01
R8293:Cc2d2a	UTSW	5	43,845,570 (GRCm39)	missense	probably damaging	0.97
R8480:Cc2d2a	UTSW	5	43,842,486 (GRCm39)	splice site	probably null
R8482:Cc2d2a	UTSW	5	43,852,581 (GRCm39)	missense	probably damaging	1.00
R8731:Cc2d2a	UTSW	5	43,892,788 (GRCm39)	missense	probably damaging	1.00
R8780:Cc2d2a	UTSW	5	43,896,692 (GRCm39)	missense	probably damaging	1.00
R8784:Cc2d2a	UTSW	5	43,860,645 (GRCm39)	missense	possibly damaging	0.90
R8871:Cc2d2a	UTSW	5	43,857,285 (GRCm39)	missense	possibly damaging	0.71
R8972:Cc2d2a	UTSW	5	43,867,884 (GRCm39)	missense	probably benign
R9122:Cc2d2a	UTSW	5	43,831,081 (GRCm39)	missense	probably null	0.07
R9125:Cc2d2a	UTSW	5	43,860,563 (GRCm39)	missense	probably benign
R9203:Cc2d2a	UTSW	5	43,891,179 (GRCm39)	missense	probably benign	0.01
R9310:Cc2d2a	UTSW	5	43,852,488 (GRCm39)	missense	probably damaging	1.00
R9343:Cc2d2a	UTSW	5	43,875,999 (GRCm39)	missense	probably damaging	1.00
R9353:Cc2d2a	UTSW	5	43,860,691 (GRCm39)	critical splice donor site	probably null
Z1177:Cc2d2a	UTSW	5	43,860,546 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGACTACAGAGTTTCCAGCC -3'
(R):5'- GGATGTTTGCCCTCATATAAATCCC -3'

Sequencing Primer
(F):5'- CTACAGAGTTTCCAGCCATAGAGG -3'
(R):5'- AGGTTGACCCAGACTTCTAATGCG -3'

Posted On

2018-05-04