Mutagenetix > Incidental Mutation

Incidental Mutation 'R0317:Cc2d2a'

25442

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

038527-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43819715-43898317 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 43864243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114349 (fasta)

Gene Model

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

AlphaFold

Q8CFW7

Predicted Effect

probably null
Transcript: ENSMUST00000048150

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765

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

probably null
Transcript: ENSMUST00000125866

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,459 (GRCm39)	V1774A	probably damaging	Het
Adam34	G	A	8: 44,105,288 (GRCm39)	P119L	probably benign	Het
Ap3b2	T	C	7: 81,113,429 (GRCm39)		probably null	Het
Arfip2	G	A	7: 105,286,430 (GRCm39)	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,330,965 (GRCm39)	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,122,697 (GRCm39)		probably null	Het
Cab39	A	G	1: 85,776,881 (GRCm39)	E322G	probably damaging	Het
Cad	C	A	5: 31,229,665 (GRCm39)	P1382Q	probably benign	Het
Cela2a	A	T	4: 141,549,011 (GRCm39)		probably null	Het
Cert1	C	T	13: 96,770,629 (GRCm39)	R487*	probably null	Het
Ces1e	A	C	8: 93,950,667 (GRCm39)	I38S	probably benign	Het
Ces1f	A	T	8: 93,990,019 (GRCm39)	F364I	probably benign	Het
Chgb	A	G	2: 132,635,731 (GRCm39)	T558A	probably benign	Het
Cnpy4	C	T	5: 138,191,074 (GRCm39)	Q217*	probably null	Het
Crlf1	A	G	8: 70,951,249 (GRCm39)	T43A	probably benign	Het
Dnah7b	T	A	1: 46,173,816 (GRCm39)	M707K	probably damaging	Het
Ets2	G	A	16: 95,513,193 (GRCm39)	S123N	probably damaging	Het
Fry	T	C	5: 150,394,933 (GRCm39)	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,745 (GRCm39)	R120H	probably benign	Het
Gbf1	A	G	19: 46,242,459 (GRCm39)	T96A	probably benign	Het
Ggn	T	A	7: 28,870,515 (GRCm39)	M1K	probably null	Het
Gm5239	A	G	18: 35,669,969 (GRCm39)	T112A	probably benign	Het
Insyn2b	C	A	11: 34,352,826 (GRCm39)	D289E	possibly damaging	Het
Kifbp	A	T	10: 62,413,861 (GRCm39)		probably null	Het
Lrrc15	A	T	16: 30,092,561 (GRCm39)	H259Q	probably benign	Het
Lysmd4	A	G	7: 66,876,045 (GRCm39)	Y236C	probably damaging	Het
Med29	T	C	7: 28,086,284 (GRCm39)	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,193,633 (GRCm39)	D68Y	probably damaging	Het
Myh1	T	C	11: 67,108,338 (GRCm39)	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,636,388 (GRCm39)		probably null	Het
Or8g30	A	G	9: 39,230,757 (GRCm39)	I51T	probably benign	Het
Pdhx	A	G	2: 102,858,625 (GRCm39)	V393A	probably benign	Het
Pgm5	A	G	19: 24,801,763 (GRCm39)	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,023 (GRCm39)	I889F	probably benign	Het
Phactr4	T	A	4: 132,114,241 (GRCm39)	K51I	probably damaging	Het
Pum2	T	A	12: 8,778,754 (GRCm39)	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,632,835 (GRCm39)	S24P	probably damaging	Het
Rasef	T	C	4: 73,666,799 (GRCm39)	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,813,772 (GRCm39)	D339G	probably benign	Het
Recql5	A	G	11: 115,785,499 (GRCm39)	S666P	probably benign	Het
Rfc1	A	T	5: 65,453,395 (GRCm39)		probably null	Het
Scarb1	A	G	5: 125,366,756 (GRCm39)	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,837,182 (GRCm39)	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,335,584 (GRCm39)	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,154,174 (GRCm39)	Y104D	probably damaging	Het
Suz12	T	A	11: 79,889,904 (GRCm39)	D13E	probably damaging	Het
Tlr1	G	T	5: 65,083,310 (GRCm39)	C422*	probably null	Het
Tmco1	T	C	1: 167,153,462 (GRCm39)	V114A	probably damaging	Het
Trpa1	T	C	1: 14,951,856 (GRCm39)	T948A	probably benign	Het
Tub	A	T	7: 108,620,134 (GRCm39)	N93Y	probably damaging	Het
Ufsp2	G	A	8: 46,445,270 (GRCm39)		probably null	Het
Veph1	T	C	3: 66,079,396 (GRCm39)	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,805,130 (GRCm39)	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,240 (GRCm39)	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,901,583 (GRCm39)	S480G	probably benign	Het
Wnk4	T	C	11: 101,159,630 (GRCm39)	S612P	probably benign	Het
Zfp503	T	C	14: 22,036,527 (GRCm39)	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602 (GRCm39)	C628Y	possibly damaging	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
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
R6381:Cc2d2a	UTSW	5	43,873,118 (GRCm39)	missense	possibly damaging	0.69
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'- TGGGGCAGACCAGCACAGAC -3'
(R):5'- ACGTGTTCTCATAGAGAAATGACTTGGC -3'

Sequencing Primer
(F):5'- TGAGAGCACATTCTATTGCCAC -3'
(R):5'- catcctcctgccttagcc -3'

Posted On

2013-04-16