Mutagenetix > Incidental Mutation

Incidental Mutation 'R0211:Cc2d2a'

35517

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

038462-MU

Accession Numbers

Genbank: NM_172274; MGI: 1924487

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R0211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43662346-43740972 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 43688266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: ENSMUST00000142303

Predicted Effect

probably null
Transcript: ENSMUST00000156034

SMART Domains

Protein: ENSMUSP00000118705
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

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.6%
20x: 89.0%

Validation Efficiency

100% (1/1)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,216,096	L1401P	possibly damaging	Het
4930503B20Rik	C	T	3: 146,650,496	R219H	probably benign	Het
Abcc9	T	A	6: 142,688,984	I185F	probably benign	Het
Adgrf1	T	C	17: 43,296,690	L100P	probably damaging	Het
Akt1	T	C	12: 112,655,142	T407A	probably damaging	Het
Alk	C	T	17: 72,603,516	R65H	probably damaging	Het
Aplp2	T	C	9: 31,157,790	E525G	probably damaging	Het
Arhgef12	G	A	9: 42,972,004	R1411C	probably damaging	Het
Arnt	T	A	3: 95,476,149	M242K	probably damaging	Het
Atad5	T	G	11: 80,095,647	V520G	probably benign	Het
Avpr1a	T	A	10: 122,449,469	M222K	possibly damaging	Het
Cbr2	T	A	11: 120,730,788	I88L	probably benign	Het
Ccdc51	T	C	9: 109,089,373	M10T	probably benign	Het
Cntnap5b	T	A	1: 100,478,374	D1136E	possibly damaging	Het
Coil	T	A	11: 88,982,153	S447T	probably damaging	Het
Cryba1	T	A	11: 77,718,867	Y179F	probably damaging	Het
Dcaf4	T	A	12: 83,535,961	F277I	probably damaging	Het
Ddost	G	A	4: 138,309,602	V159M	probably damaging	Het
Dnajb6	T	C	5: 29,785,079		probably benign	Het
Dnase2a	A	G	8: 84,908,788		probably benign	Het
Dscam	T	C	16: 96,716,079	I877V	possibly damaging	Het
Dyx1c1	A	T	9: 72,961,367	R127S	possibly damaging	Het
Efcc1	A	T	6: 87,749,154	T312S	probably benign	Het
Ermard	A	T	17: 15,021,943	Q127L	probably damaging	Het
F2	T	C	2: 91,630,158	E329G	probably damaging	Het
Foxc2	T	A	8: 121,116,616	M1K	probably null	Het
Fuz	T	A	7: 44,899,022		probably null	Het
Ggnbp2	G	A	11: 84,840,313	T325M	probably damaging	Het
Gm6408	T	A	5: 146,483,060	F115I	probably benign	Het
Gm8909	T	C	17: 36,168,007	T117A	probably damaging	Het
Gp6	C	T	7: 4,373,209		probably null	Het
Grin2a	A	G	16: 9,579,173	S1017P	possibly damaging	Het
Hmmr	A	T	11: 40,714,808	M318K	probably damaging	Het
Ifi205	T	C	1: 174,028,428	E12G	probably benign	Het
Ift74	C	T	4: 94,679,255	T395I	probably benign	Het
Ikbkap	T	A	4: 56,795,545	I143F	probably damaging	Het
Irf8	A	T	8: 120,739,975	D53V	probably damaging	Het
Itgad	A	G	7: 128,204,641	Y69C	probably damaging	Het
Itpr2	C	A	6: 146,194,613	R2084L	probably benign	Het
Krt4	C	A	15: 101,922,782	S228I	possibly damaging	Het
Lpin3	A	T	2: 160,898,681	D382V	probably damaging	Het
Ltbp3	T	C	19: 5,752,143		probably null	Het
Map4k3	C	T	17: 80,644,841	A179T	probably damaging	Het
Nck1	A	T	9: 100,497,767	W144R	probably damaging	Het
Ndufb9	A	T	15: 58,939,282	Q139L	possibly damaging	Het
Ngfr	T	G	11: 95,571,912	E300A	probably damaging	Het
Nin	T	G	12: 70,014,875	T2072P	probably damaging	Het
Nop2	T	G	6: 125,141,344	L529R	probably damaging	Het
Nrm	T	A	17: 35,864,611	L203Q	probably damaging	Het
Nynrin	T	C	14: 55,871,798	F1454S	probably benign	Het
Olfr1062	A	C	2: 86,423,107	S190A	probably damaging	Het
Olfr1328	T	A	4: 118,934,270	M191L	probably benign	Het
Olfr1453	T	C	19: 13,028,282	T16A	possibly damaging	Het
Os9	A	G	10: 127,121,036	V27A	probably damaging	Het
Osbpl9	T	G	4: 109,073,124	T332P	probably damaging	Het
Pcdhb10	A	T	18: 37,414,006	M712L	probably benign	Het
Pcx	C	T	19: 4,620,199	A935V	probably damaging	Het
Pdzd7	A	G	19: 45,033,667	V514A	possibly damaging	Het
Plin4	C	T	17: 56,102,242	G1326D	probably damaging	Het
Plxnb1	T	A	9: 109,103,663	Y568*	probably null	Het
Pmfbp1	T	A	8: 109,541,740	V973D	probably benign	Het
Ppp2r1b	T	C	9: 50,861,625	V70A	probably benign	Het
Prkar2b	C	A	12: 31,972,184	V201L	probably benign	Het
Rgr	T	G	14: 37,046,968	T37P	probably damaging	Het
Ripk3	A	T	14: 55,787,918	L63Q	probably damaging	Het
Rpusd2	A	G	2: 119,038,412	S439G	probably benign	Het
Serac1	T	A	17: 6,050,060	R438S	possibly damaging	Het
Slc19a1	T	A	10: 77,038,466	S24T	possibly damaging	Het
Slc6a21	A	C	7: 45,288,243	T653P	possibly damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spdef	C	T	17: 27,714,920	R309H	probably damaging	Het
Srp68	A	T	11: 116,265,551	Y84N	probably damaging	Het
Syne2	A	T	12: 76,097,957	Q6299L	probably damaging	Het
Tmem63b	T	A	17: 45,661,913	M652L	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnk1	A	G	11: 69,855,181	V306A	probably damaging	Het
Tnnc2	T	A	2: 164,777,484	I147F	probably damaging	Het
Tnni3k	C	T	3: 155,055,344		probably benign	Het
Togaram2	T	A	17: 71,729,248	V911D	probably damaging	Het
Tyw3	T	C	3: 154,587,495	N181S	probably damaging	Het
Unc79	T	A	12: 103,072,792	S682T	probably benign	Het
Vps13d	A	G	4: 145,114,778	L2634S	probably benign	Het
Wasl	G	T	6: 24,633,893	A124E	probably damaging	Het
Zfp287	T	C	11: 62,714,917	H388R	probably damaging	Het
Zfp335	T	C	2: 164,907,692	T262A	probably damaging	Het
Zfp457	C	G	13: 67,293,147	G359R	probably benign	Het
Zfp536	T	A	7: 37,568,449	E514V	probably damaging	Het
Zfp872	T	A	9: 22,200,173	I316N	probably 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
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
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'- TGAGGCTGGTACTCATGTCCATGC -3'
(R):5'- TGTCACCTTGGGCTCTTGAAGAAC -3'

Sequencing Primer
(F):5'- ACAGCCAAGATTCCTGGAAG -3'
(R):5'- tccaggacagcaccaatatac -3'

Posted On

2013-05-09