Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Cc2d2a'

194276

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

039797-MU

Accession Numbers

Genbank: NM_172274; MGI: 1924487

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43662346-43740972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43714531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 903 (D903V)

Ref Sequence

ENSEMBL: ENSMUSP00000114349 (fasta)

Gene Model

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

AlphaFold

Q8CFW7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048150
AA Change: D952V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: D952V

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 damaging
Transcript: ENSMUST00000125866
AA Change: D903V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: D903V

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

0.1559

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	C	4: 35,197,098	H322Q	probably damaging	Het
4933412E24Rik	G	T	15: 60,015,345	C415*	probably null	Het
A430105I19Rik	G	A	2: 118,760,647	A135V	probably benign	Het
Adamtsl2	A	C	2: 27,102,830	I652L	probably benign	Het
Adgrl4	T	C	3: 151,543,235	I720T	probably damaging	Het
Agrn	A	T	4: 156,176,827	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
B3galt2	C	A	1: 143,646,469	N114K	probably benign	Het
Bud23	A	T	5: 135,056,043	M59K	probably benign	Het
C3	C	T	17: 57,224,401		probably null	Het
Ccdc105	A	T	10: 78,748,668	M340K	probably benign	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,720,749	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,394,918	N62I	probably benign	Het
Cdc27	G	T	11: 104,534,781	Q70K	probably damaging	Het
Cenpq	A	T	17: 40,924,287		probably null	Het
Cep295	T	C	9: 15,327,904	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,505,531	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,353,868	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,864,594	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,190,303	Q104*	probably null	Het
Dglucy	T	A	12: 100,850,102		probably null	Het
Dnajc9	A	G	14: 20,388,090	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,902,140	D396V	possibly damaging	Het
Dock10	T	A	1: 80,605,823	I221F	probably damaging	Het
Dscam	T	C	16: 96,685,379	N1032S	probably benign	Het
Dsg4	A	C	18: 20,456,831	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,249,415	H417R	probably benign	Het
Dysf	G	A	6: 84,190,902		probably null	Het
Elovl1	A	G	4: 118,430,510	M1V	probably null	Het
Eva1c	A	G	16: 90,904,247	S257G	probably benign	Het
Eya2	A	T	2: 165,724,803	D258V	probably damaging	Het
Fam193a	A	G	5: 34,436,497	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Fstl5	G	T	3: 76,593,476	R404L	possibly damaging	Het
Glud1	T	C	14: 34,325,584		probably benign	Het
Gm10770	A	C	2: 150,179,338	H86Q	probably damaging	Het
Gm13757	A	T	2: 88,446,023	F305Y	probably damaging	Het
Gm5724	T	C	6: 141,754,358		probably benign	Het
Gzme	C	T	14: 56,118,414	G147D	probably damaging	Het
Herc3	T	C	6: 58,888,660	V746A	probably damaging	Het
Hmga1	A	G	17: 27,559,618	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,420,812	K206*	probably null	Het
Kng2	A	G	16: 22,988,243		probably null	Het
Lrrc41	G	A	4: 116,089,051	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 131,058,761	M1K	probably null	Het
Me2	A	G	18: 73,791,858	F263L	probably damaging	Het
Mkks	A	G	2: 136,880,367	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772	I255N	probably damaging	Het
Mogs	A	G	6: 83,116,803	D251G	probably benign	Het
Morf4l1	T	A	9: 90,102,348	Y65F	possibly damaging	Het
Neb	T	C	2: 52,204,664	D5169G	probably damaging	Het
Nin	A	G	12: 70,042,891	L1250P	probably damaging	Het
Nomo1	G	T	7: 46,066,293	G721V	possibly damaging	Het
Notch2	T	G	3: 98,121,926	C1002G	probably damaging	Het
Npat	T	C	9: 53,570,222	Y1077H	probably benign	Het
Olfr1284	G	A	2: 111,379,146	V49I	probably benign	Het
Olfr193	A	G	16: 59,109,755	L285P	probably damaging	Het
Olfr376	T	A	11: 73,375,344	N198K	probably damaging	Het
Olfr894	T	C	9: 38,219,252	I143T	probably benign	Het
Otop2	A	T	11: 115,324,678	I142F	probably benign	Het
Pacsin3	A	G	2: 91,263,115	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,413,447	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,821,860	H729R	probably benign	Het
Plcd1	T	C	9: 119,071,806	D756G	probably damaging	Het
Prune2	A	G	19: 17,125,598	E2707G	probably damaging	Het
Rit2	C	T	18: 31,316,898	G16S	probably damaging	Het
Sec24c	A	G	14: 20,688,854		probably benign	Het
Skint5	G	T	4: 113,577,661	T1037K	unknown	Het
Slc28a2	T	A	2: 122,460,395		probably null	Het
Slc41a2	G	A	10: 83,301,266	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,473,579	I537F	possibly damaging	Het
Smchd1	A	T	17: 71,400,201		probably benign	Het
Smg1	T	C	7: 118,139,715	I3489V	probably benign	Het
Sytl3	T	C	17: 6,699,683	L142P	probably damaging	Het
Tfr2	C	T	5: 137,583,445	T598I	probably damaging	Het
Tmc2	A	G	2: 130,260,225	Q770R	probably benign	Het
Tnc	C	T	4: 64,013,994	V728M	probably damaging	Het
Trim68	A	T	7: 102,680,390	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,559,188	D325G	probably benign	Het
Ube3a	C	T	7: 59,286,114	T582I	probably damaging	Het
Usp13	G	A	3: 32,915,770	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,161,269	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,637,496	M86K	probably damaging	Het
Vsig10	A	G	5: 117,318,815		probably benign	Het
Zbtb41	T	A	1: 139,440,394	C607S	probably benign	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
R0453:Cc2d2a	UTSW	5	43703294	missense	probably benign	0.00
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
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'- GTACTGGCTATGCACCAAAGGTCC -3'
(R):5'- CCCATTCATCGTAACAGTCCGCAG -3'

Sequencing Primer
(F):5'- CGGAGGAAGGCGGAGATTTAG -3'
(R):5'- CAGCATAGTCCCTGGCATAG -3'

Posted On

2014-05-23