Mutagenetix > Incidental Mutation

Incidental Mutation 'R0453:Cc2d2a'

39755

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

038653-MU

Accession Numbers

Genbank: NM_172274; MGI: 1924487

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R0453 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

43662346-43740972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43703294 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 522 (M522L)

Ref Sequence

ENSEMBL: ENSMUSP00000114349 (fasta)

Gene Model

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

AlphaFold

Q8CFW7

Predicted Effect

probably benign
Transcript: ENSMUST00000048150
AA Change: M571L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: M571L

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 benign
Transcript: ENSMUST00000125866
AA Change: M522L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: M522L

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

0.0790

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (97/98)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,753,668	Y715C	probably damaging	Het
Acad10	T	A	5: 121,627,382	K843*	probably null	Het
Adam26b	T	C	8: 43,520,350	I538M	probably benign	Het
Adamtsl1	T	C	4: 86,232,615	Y337H	probably damaging	Het
Ak7	T	C	12: 105,716,048	M156T	probably damaging	Het
Aldh3a1	A	G	11: 61,215,512	M238V	probably benign	Het
Asic4	T	A	1: 75,473,511		probably benign	Het
AW551984	A	G	9: 39,600,641	S25P	probably damaging	Het
Bbs7	T	A	3: 36,607,669	Y127F	possibly damaging	Het
BC049730	T	A	7: 24,714,287	S243T	probably benign	Het
Bco1	G	A	8: 117,108,777	E156K	possibly damaging	Het
Becn1	T	C	11: 101,290,449	D342G	probably damaging	Het
Birc6	T	A	17: 74,649,754	I3575N	probably damaging	Het
Cerkl	A	G	2: 79,342,451	F293L	probably benign	Het
Chil3	T	G	3: 106,148,905	N311T	probably benign	Het
Cpeb2	T	A	5: 43,285,713		probably benign	Het
Cpxm2	A	G	7: 132,128,405	S162P	probably damaging	Het
Cracr2b	A	C	7: 141,464,263	E136A	probably damaging	Het
Cyp2a4	T	A	7: 26,312,833	M347K	probably benign	Het
Dicer1	C	A	12: 104,702,630	R1264S	probably benign	Het
Dlgap1	T	A	17: 70,761,346	N609K	probably benign	Het
Dnhd1	A	G	7: 105,674,444	T641A	probably benign	Het
Egfl8	T	C	17: 34,614,882	Y74C	probably damaging	Het
Esyt1	A	G	10: 128,512,209	S901P	probably benign	Het
Fam83e	A	T	7: 45,723,948	D246V	probably damaging	Het
Galnt2	T	C	8: 124,338,584		probably benign	Het
Hdc	A	G	2: 126,594,951		probably benign	Het
Herc1	A	C	9: 66,399,772	Q958P	probably benign	Het
Iqcg	T	A	16: 33,049,843		probably benign	Het
Iqub	A	T	6: 24,450,830	F590Y	probably damaging	Het
Jak2	T	C	19: 29,311,838	I1130T	probably benign	Het
Kbtbd11	G	A	8: 15,027,499	A33T	probably benign	Het
Kcnip4	A	G	5: 48,509,712	L37P	probably damaging	Het
Klk6	A	G	7: 43,828,539	N112D	probably damaging	Het
Kmt2c	G	A	5: 25,354,747	T1011I	probably damaging	Het
Knl1	A	T	2: 119,068,388	K190M	probably damaging	Het
Lama3	T	A	18: 12,465,478	S981T	possibly damaging	Het
Lrrc18	T	C	14: 33,008,651	L49P	probably damaging	Het
Lrrc31	T	C	3: 30,687,525	E245G	probably damaging	Het
Macf1	T	C	4: 123,444,944	I2456M	probably benign	Het
Mcm6	T	A	1: 128,333,555	T771S	probably benign	Het
Met	A	C	6: 17,534,198	Y680S	possibly damaging	Het
Mixl1	T	A	1: 180,696,646	T123S	probably damaging	Het
Myh8	A	T	11: 67,292,905	I787F	probably benign	Het
Myocd	A	G	11: 65,196,225	F292S	probably damaging	Het
Neb	T	C	2: 52,313,890		probably null	Het
Nfe2l1	A	G	11: 96,827,368	S114P	probably damaging	Het
Nrxn2	T	C	19: 6,491,521	S986P	probably damaging	Het
Olfr1246	A	T	2: 89,590,751	Y121*	probably null	Het
Olfr1453	T	G	19: 13,027,931	T133P	probably damaging	Het
Olfr25	A	T	9: 38,330,171	T195S	probably benign	Het
Olfr745	T	C	14: 50,643,004	V241A	possibly damaging	Het
Olfr767	A	G	10: 129,079,771	F64S	probably damaging	Het
Olfr920	G	A	9: 38,756,129	G147D	probably damaging	Het
Oprl1	T	C	2: 181,718,734		probably null	Het
Panx2	T	A	15: 89,068,407	I359N	probably damaging	Het
Pik3c2b	T	A	1: 133,077,396	V545E	probably damaging	Het
Piwil4	T	C	9: 14,727,452	N259S	probably benign	Het
Plcxd2	A	T	16: 45,980,556	F102I	probably damaging	Het
Pld5	A	T	1: 176,089,956	M75K	possibly damaging	Het
Pmp22	T	A	11: 63,151,103		probably benign	Het
Polr2a	A	G	11: 69,741,019	S1074P	possibly damaging	Het
Pop1	T	A	15: 34,526,206	V649E	possibly damaging	Het
Prc1	A	G	7: 80,313,102	N548S	probably damaging	Het
Prss51	T	C	14: 64,097,139	L202P	probably damaging	Het
Rhpn1	T	C	15: 75,713,579	S576P	possibly damaging	Het
Rictor	A	G	15: 6,708,642	D20G	probably benign	Het
Rpl13a-ps1	A	T	19: 50,030,206	L177*	probably null	Het
Rpl23a-ps1	T	G	1: 45,981,927		noncoding transcript	Het
Saa2	A	G	7: 46,753,478	D51G	probably damaging	Het
Sec31a	A	T	5: 100,404,118		probably benign	Het
Secisbp2	G	A	13: 51,683,325	E841K	possibly damaging	Het
Serinc1	A	G	10: 57,517,210	Y437H	probably damaging	Het
Slc39a12	A	T	2: 14,435,681	H481L	probably benign	Het
Suz12	T	A	11: 80,030,033	N586K	probably damaging	Het
Synm	T	C	7: 67,736,882	Y344C	possibly damaging	Het
Tas2r104	A	G	6: 131,685,341	V135A	probably benign	Het
Tdrd9	T	C	12: 112,068,239	S1371P	probably benign	Het
Tg	T	A	15: 66,828,533	D893E	probably benign	Het
Thoc5	C	A	11: 4,918,217	D423E	possibly damaging	Het
Trim11	G	A	11: 58,990,535	R418H	probably damaging	Het
Trim52	T	G	14: 106,106,965	V19G	probably damaging	Het
Tuba4a	C	A	1: 75,215,858	V371L	probably damaging	Het
Ugt8a	A	G	3: 125,914,957	V168A	probably benign	Het
Ulk1	C	T	5: 110,791,085	G496R	probably damaging	Het
Usp40	A	G	1: 87,946,598	*1236Q	probably null	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r24	A	G	6: 123,780,391		probably null	Het
Vmn2r53	A	G	7: 12,582,411	Y494H	probably damaging	Het
Vmn2r65	T	A	7: 84,946,234	D414V	probably benign	Het
Wdr26	A	T	1: 181,182,879	L519*	probably null	Het
Wnk1	A	G	6: 119,963,151	V173A	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp318	T	C	17: 46,396,708	S231P	probably damaging	Het
Zfp398	T	C	6: 47,865,848	V146A	probably benign	Het
Zfp410	T	C	12: 84,331,712	M270T	probably damaging	Het
Zfp445	A	T	9: 122,853,513	H454Q	possibly damaging	Het

Other mutations in Cc2d2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cc2d2a	APN	5	43724380	splice site	probably benign
IGL00937:Cc2d2a	APN	5	43688122	critical splice acceptor site	probably null
IGL01322:Cc2d2a	APN	5	43689003	missense	probably benign	0.00
IGL01349:Cc2d2a	APN	5	43723784	missense	probably benign	0.01
IGL01448:Cc2d2a	APN	5	43684185	missense	possibly damaging	0.65
IGL01871:Cc2d2a	APN	5	43688969	missense	probably damaging	0.98
IGL01947:Cc2d2a	APN	5	43688237	missense	probably damaging	0.96
IGL01976:Cc2d2a	APN	5	43683115	missense	probably benign	0.02
IGL02113:Cc2d2a	APN	5	43685248	splice site	probably null
IGL02364:Cc2d2a	APN	5	43735450	missense	probably damaging	1.00
IGL02448:Cc2d2a	APN	5	43683205	splice site	probably benign
IGL02458:Cc2d2a	APN	5	43718554	missense	probably benign	0.01
IGL02542:Cc2d2a	APN	5	43688910	splice site	probably benign
IGL02834:Cc2d2a	APN	5	43714521	nonsense	probably null
IGL02940:Cc2d2a	APN	5	43728294	splice site	probably null
IGL03003:Cc2d2a	APN	5	43671266	missense	probably benign	0.22
IGL03183:Cc2d2a	APN	5	43732379	missense	probably damaging	1.00
C9142:Cc2d2a	UTSW	5	43735457	splice site	probably benign
P0028:Cc2d2a	UTSW	5	43684199	missense	probably benign
R0193:Cc2d2a	UTSW	5	43736118	missense	probably damaging	1.00
R0201:Cc2d2a	UTSW	5	43737512	missense	probably damaging	1.00
R0211:Cc2d2a	UTSW	5	43688266	splice site	probably null
R0243:Cc2d2a	UTSW	5	43696638	splice site	probably benign
R0317:Cc2d2a	UTSW	5	43706901	critical splice donor site	probably null
R0558:Cc2d2a	UTSW	5	43724387	splice site	probably benign
R0624:Cc2d2a	UTSW	5	43730029	missense	probably benign
R0634:Cc2d2a	UTSW	5	43681381	splice site	probably benign
R1503:Cc2d2a	UTSW	5	43695239	missense	probably damaging	1.00
R1635:Cc2d2a	UTSW	5	43722470	missense	probably damaging	1.00
R1686:Cc2d2a	UTSW	5	43739371	missense	possibly damaging	0.81
R1707:Cc2d2a	UTSW	5	43723688	splice site	probably null
R1715:Cc2d2a	UTSW	5	43718661	missense	probably damaging	0.97
R1765:Cc2d2a	UTSW	5	43714531	missense	probably damaging	0.99
R1794:Cc2d2a	UTSW	5	43688252	missense	probably damaging	1.00
R1881:Cc2d2a	UTSW	5	43740828	missense	probably damaging	0.99
R1917:Cc2d2a	UTSW	5	43706222	missense	probably damaging	1.00
R2005:Cc2d2a	UTSW	5	43726373	critical splice donor site	probably null
R2201:Cc2d2a	UTSW	5	43684033	splice site	probably benign
R2244:Cc2d2a	UTSW	5	43732433	missense	probably damaging	1.00
R2368:Cc2d2a	UTSW	5	43703888	missense	probably benign
R2442:Cc2d2a	UTSW	5	43671305	critical splice donor site	probably null
R2511:Cc2d2a	UTSW	5	43735395	missense	probably damaging	0.99
R3023:Cc2d2a	UTSW	5	43685251	splice site	probably null
R3147:Cc2d2a	UTSW	5	43709155	missense	probably damaging	1.00
R3148:Cc2d2a	UTSW	5	43709155	missense	probably damaging	1.00
R3426:Cc2d2a	UTSW	5	43736109	missense	probably benign	0.00
R3609:Cc2d2a	UTSW	5	43712326	missense	probably damaging	0.99
R3610:Cc2d2a	UTSW	5	43712326	missense	probably damaging	0.99
R3611:Cc2d2a	UTSW	5	43712326	missense	probably damaging	0.99
R3839:Cc2d2a	UTSW	5	43718714	missense	probably benign
R3870:Cc2d2a	UTSW	5	43718691	nonsense	probably null
R4334:Cc2d2a	UTSW	5	43683134	missense	probably benign	0.00
R4913:Cc2d2a	UTSW	5	43739323	missense	probably benign	0.12
R5179:Cc2d2a	UTSW	5	43688221	missense	possibly damaging	0.82
R5315:Cc2d2a	UTSW	5	43720433	missense	probably damaging	0.99
R5352:Cc2d2a	UTSW	5	43706213	missense	probably damaging	1.00
R5386:Cc2d2a	UTSW	5	43730041	missense	probably benign	0.01
R5538:Cc2d2a	UTSW	5	43695176	missense	possibly damaging	0.94
R5568:Cc2d2a	UTSW	5	43709091	missense	probably damaging	0.99
R5618:Cc2d2a	UTSW	5	43729907	missense	probably benign	0.00
R5653:Cc2d2a	UTSW	5	43722462	missense	possibly damaging	0.81
R5817:Cc2d2a	UTSW	5	43712418	missense	probably damaging	1.00
R5858:Cc2d2a	UTSW	5	43715775	missense	probably damaging	1.00
R5905:Cc2d2a	UTSW	5	43712426	missense	probably benign
R5912:Cc2d2a	UTSW	5	43720430	missense	probably damaging	0.97
R6073:Cc2d2a	UTSW	5	43729975	missense	probably damaging	1.00
R6084:Cc2d2a	UTSW	5	43668673	missense	probably benign
R6142:Cc2d2a	UTSW	5	43703198	missense	probably damaging	0.97
R6176:Cc2d2a	UTSW	5	43709113	missense	probably benign	0.32
R6238:Cc2d2a	UTSW	5	43671235	missense	probably benign	0.11
R6381:Cc2d2a	UTSW	5	43715776	missense	possibly damaging	0.69
R6404:Cc2d2a	UTSW	5	43704074	missense	possibly damaging	0.58
R6455:Cc2d2a	UTSW	5	43739412	missense	possibly damaging	0.69
R6695:Cc2d2a	UTSW	5	43718677	missense	probably damaging	0.99
R6805:Cc2d2a	UTSW	5	43681331	missense	probably damaging	1.00
R6919:Cc2d2a	UTSW	5	43703215	missense	probably benign	0.19
R6970:Cc2d2a	UTSW	5	43718585	missense	probably damaging	1.00
R7024:Cc2d2a	UTSW	5	43733929	missense	probably benign	0.10
R7054:Cc2d2a	UTSW	5	43699979	nonsense	probably null
R7071:Cc2d2a	UTSW	5	43709113	missense	probably benign	0.13
R7098:Cc2d2a	UTSW	5	43683139	missense	probably benign	0.00
R7366:Cc2d2a	UTSW	5	43729990	missense	probably damaging	1.00
R7908:Cc2d2a	UTSW	5	43706846	missense	probably benign	0.00
R7920:Cc2d2a	UTSW	5	43739309	missense	probably benign	0.09
R7950:Cc2d2a	UTSW	5	43695296	critical splice donor site	probably null
R8007:Cc2d2a	UTSW	5	43706100	missense	possibly damaging	0.71
R8117:Cc2d2a	UTSW	5	43712439	missense	probably damaging	1.00
R8123:Cc2d2a	UTSW	5	43710554	missense	probably benign
R8179:Cc2d2a	UTSW	5	43699953	missense	probably damaging	0.96
R8279:Cc2d2a	UTSW	5	43736145	missense	probably benign	0.01
R8293:Cc2d2a	UTSW	5	43688228	missense	probably damaging	0.97
R8480:Cc2d2a	UTSW	5	43685144	splice site	probably null
R8482:Cc2d2a	UTSW	5	43695239	missense	probably damaging	1.00
R8731:Cc2d2a	UTSW	5	43735446	missense	probably damaging	1.00
R8780:Cc2d2a	UTSW	5	43739350	missense	probably damaging	1.00
R8784:Cc2d2a	UTSW	5	43703303	missense	possibly damaging	0.90
R8871:Cc2d2a	UTSW	5	43699943	missense	possibly damaging	0.71
R8972:Cc2d2a	UTSW	5	43710542	missense	probably benign
R9122:Cc2d2a	UTSW	5	43673739	missense	probably null	0.07
R9125:Cc2d2a	UTSW	5	43703221	missense	probably benign
R9203:Cc2d2a	UTSW	5	43733837	missense	probably benign	0.01
R9310:Cc2d2a	UTSW	5	43695146	missense	probably damaging	1.00
R9343:Cc2d2a	UTSW	5	43718657	missense	probably damaging	1.00
R9353:Cc2d2a	UTSW	5	43703349	critical splice donor site	probably null
Z1177:Cc2d2a	UTSW	5	43703204	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTGCATGGTCACCATCTTACG -3'
(R):5'- AAGAGCATTCAGTAGGGGCATCAAC -3'

Sequencing Primer
(F):5'- GTCACCATCTTACGTCATTCCAAG -3'
(R):5'- TTTTGGGCCTCCCTAACAAAAG -3'

Posted On

2013-05-23