Mutagenetix > Incidental Mutation

Incidental Mutation 'R3611:Cc2d2a'

269223

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

Accession Numbers

Genbank: NM_172274; MGI: 1924487

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R3611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43662346-43740972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43712326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 856 (E856D)

Ref Sequence

ENSEMBL: ENSMUSP00000114349 (fasta)

Gene Model

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

AlphaFold

Q8CFW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048150
AA Change: E905D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: E905D

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: E856D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: E856D

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: 98.5%
10x: 97.1%
20x: 94.4%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	G	A	6: 92,869,984 (GRCm38)	T521M	probably benign	Het
Ap1b1	A	G	11: 5,024,427 (GRCm38)	K345R	possibly damaging	Het
Arhgap26	T	C	18: 38,933,919 (GRCm38)	W53R	probably benign	Het
Brd1	A	G	15: 88,700,944 (GRCm38)	S896P	probably benign	Het
Chd3	A	G	11: 69,362,147 (GRCm38)	S281P	possibly damaging	Het
Chl1	A	G	6: 103,698,155 (GRCm38)	D601G	probably damaging	Het
Cntn3	C	A	6: 102,208,077 (GRCm38)	V693L	possibly damaging	Het
Crygs	C	T	16: 22,805,551 (GRCm38)	G102D	possibly damaging	Het
D1Ertd622e	T	C	1: 97,646,334 (GRCm38)	E2G	probably damaging	Het
Dsc2	A	G	18: 20,032,351 (GRCm38)	V855A	probably damaging	Het
Fat2	T	C	11: 55,312,069 (GRCm38)	M60V	probably benign	Het
Fmnl1	A	G	11: 103,194,765 (GRCm38)		probably benign	Het
Gnpda2	A	G	5: 69,577,409 (GRCm38)	S268P	probably benign	Het
Kif18a	A	C	2: 109,338,596 (GRCm38)	D833A	probably benign	Het
Kmt2a	A	T	9: 44,822,466 (GRCm38)		probably benign	Het
Lsg1	A	G	16: 30,561,795 (GRCm38)	V608A	probably benign	Het
Mmrn2	G	A	14: 34,398,675 (GRCm38)	V501M	probably benign	Het
Olfr45	G	A	7: 140,691,100 (GRCm38)	C65Y	probably benign	Het
Ppa2	A	G	3: 133,348,106 (GRCm38)	T186A	probably benign	Het
Rims4	T	A	2: 163,879,206 (GRCm38)	I42F	possibly damaging	Het
Rnf17	A	T	14: 56,467,740 (GRCm38)	E700D	probably benign	Het
Skor2	T	C	18: 76,858,838 (GRCm38)	V85A	unknown	Het
Srbd1	T	C	17: 86,102,927 (GRCm38)	T526A	probably benign	Het
Ttn	C	T	2: 76,759,259 (GRCm38)	R21217H	probably damaging	Het
Ubtfl1	T	C	9: 18,409,365 (GRCm38)	I63T	probably damaging	Het
Zfp616	A	G	11: 74,083,442 (GRCm38)	K270R	possibly damaging	Het
Zfp750	G	A	11: 121,512,155 (GRCm38)	P589L	probably benign	Het
Zfr	G	A	15: 12,159,762 (GRCm38)		probably null	Het

Other mutations in Cc2d2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Cc2d2a	APN	5	43,724,380 (GRCm38)	splice site	probably benign
IGL00937:Cc2d2a	APN	5	43,688,122 (GRCm38)	critical splice acceptor site	probably null
IGL01322:Cc2d2a	APN	5	43,689,003 (GRCm38)	missense	probably benign	0.00
IGL01349:Cc2d2a	APN	5	43,723,784 (GRCm38)	missense	probably benign	0.01
IGL01448:Cc2d2a	APN	5	43,684,185 (GRCm38)	missense	possibly damaging	0.65
IGL01871:Cc2d2a	APN	5	43,688,969 (GRCm38)	missense	probably damaging	0.98
IGL01947:Cc2d2a	APN	5	43,688,237 (GRCm38)	missense	probably damaging	0.96
IGL01976:Cc2d2a	APN	5	43,683,115 (GRCm38)	missense	probably benign	0.02
IGL02113:Cc2d2a	APN	5	43,685,248 (GRCm38)	splice site	probably null
IGL02364:Cc2d2a	APN	5	43,735,450 (GRCm38)	missense	probably damaging	1.00
IGL02448:Cc2d2a	APN	5	43,683,205 (GRCm38)	splice site	probably benign
IGL02458:Cc2d2a	APN	5	43,718,554 (GRCm38)	missense	probably benign	0.01
IGL02542:Cc2d2a	APN	5	43,688,910 (GRCm38)	splice site	probably benign
IGL02834:Cc2d2a	APN	5	43,714,521 (GRCm38)	nonsense	probably null
IGL02940:Cc2d2a	APN	5	43,728,294 (GRCm38)	splice site	probably null
IGL03003:Cc2d2a	APN	5	43,671,266 (GRCm38)	missense	probably benign	0.22
IGL03183:Cc2d2a	APN	5	43,732,379 (GRCm38)	missense	probably damaging	1.00
C9142:Cc2d2a	UTSW	5	43,735,457 (GRCm38)	splice site	probably benign
P0028:Cc2d2a	UTSW	5	43,684,199 (GRCm38)	missense	probably benign
R0193:Cc2d2a	UTSW	5	43,736,118 (GRCm38)	missense	probably damaging	1.00
R0201:Cc2d2a	UTSW	5	43,737,512 (GRCm38)	missense	probably damaging	1.00
R0211:Cc2d2a	UTSW	5	43,688,266 (GRCm38)	splice site	probably null
R0243:Cc2d2a	UTSW	5	43,696,638 (GRCm38)	splice site	probably benign
R0317:Cc2d2a	UTSW	5	43,706,901 (GRCm38)	critical splice donor site	probably null
R0453:Cc2d2a	UTSW	5	43,703,294 (GRCm38)	missense	probably benign	0.00
R0558:Cc2d2a	UTSW	5	43,724,387 (GRCm38)	splice site	probably benign
R0624:Cc2d2a	UTSW	5	43,730,029 (GRCm38)	missense	probably benign
R0634:Cc2d2a	UTSW	5	43,681,381 (GRCm38)	splice site	probably benign
R1503:Cc2d2a	UTSW	5	43,695,239 (GRCm38)	missense	probably damaging	1.00
R1635:Cc2d2a	UTSW	5	43,722,470 (GRCm38)	missense	probably damaging	1.00
R1686:Cc2d2a	UTSW	5	43,739,371 (GRCm38)	missense	possibly damaging	0.81
R1707:Cc2d2a	UTSW	5	43,723,688 (GRCm38)	splice site	probably null
R1715:Cc2d2a	UTSW	5	43,718,661 (GRCm38)	missense	probably damaging	0.97
R1765:Cc2d2a	UTSW	5	43,714,531 (GRCm38)	missense	probably damaging	0.99
R1794:Cc2d2a	UTSW	5	43,688,252 (GRCm38)	missense	probably damaging	1.00
R1881:Cc2d2a	UTSW	5	43,740,828 (GRCm38)	missense	probably damaging	0.99
R1917:Cc2d2a	UTSW	5	43,706,222 (GRCm38)	missense	probably damaging	1.00
R2005:Cc2d2a	UTSW	5	43,726,373 (GRCm38)	critical splice donor site	probably null
R2201:Cc2d2a	UTSW	5	43,684,033 (GRCm38)	splice site	probably benign
R2244:Cc2d2a	UTSW	5	43,732,433 (GRCm38)	missense	probably damaging	1.00
R2368:Cc2d2a	UTSW	5	43,703,888 (GRCm38)	missense	probably benign
R2442:Cc2d2a	UTSW	5	43,671,305 (GRCm38)	critical splice donor site	probably null
R2511:Cc2d2a	UTSW	5	43,735,395 (GRCm38)	missense	probably damaging	0.99
R3023:Cc2d2a	UTSW	5	43,685,251 (GRCm38)	splice site	probably null
R3147:Cc2d2a	UTSW	5	43,709,155 (GRCm38)	missense	probably damaging	1.00
R3148:Cc2d2a	UTSW	5	43,709,155 (GRCm38)	missense	probably damaging	1.00
R3426:Cc2d2a	UTSW	5	43,736,109 (GRCm38)	missense	probably benign	0.00
R3609:Cc2d2a	UTSW	5	43,712,326 (GRCm38)	missense	probably damaging	0.99
R3610:Cc2d2a	UTSW	5	43,712,326 (GRCm38)	missense	probably damaging	0.99
R3839:Cc2d2a	UTSW	5	43,718,714 (GRCm38)	missense	probably benign
R3870:Cc2d2a	UTSW	5	43,718,691 (GRCm38)	nonsense	probably null
R4334:Cc2d2a	UTSW	5	43,683,134 (GRCm38)	missense	probably benign	0.00
R4913:Cc2d2a	UTSW	5	43,739,323 (GRCm38)	missense	probably benign	0.12
R5179:Cc2d2a	UTSW	5	43,688,221 (GRCm38)	missense	possibly damaging	0.82
R5315:Cc2d2a	UTSW	5	43,720,433 (GRCm38)	missense	probably damaging	0.99
R5352:Cc2d2a	UTSW	5	43,706,213 (GRCm38)	missense	probably damaging	1.00
R5386:Cc2d2a	UTSW	5	43,730,041 (GRCm38)	missense	probably benign	0.01
R5538:Cc2d2a	UTSW	5	43,695,176 (GRCm38)	missense	possibly damaging	0.94
R5568:Cc2d2a	UTSW	5	43,709,091 (GRCm38)	missense	probably damaging	0.99
R5618:Cc2d2a	UTSW	5	43,729,907 (GRCm38)	missense	probably benign	0.00
R5653:Cc2d2a	UTSW	5	43,722,462 (GRCm38)	missense	possibly damaging	0.81
R5817:Cc2d2a	UTSW	5	43,712,418 (GRCm38)	missense	probably damaging	1.00
R5858:Cc2d2a	UTSW	5	43,715,775 (GRCm38)	missense	probably damaging	1.00
R5905:Cc2d2a	UTSW	5	43,712,426 (GRCm38)	missense	probably benign
R5912:Cc2d2a	UTSW	5	43,720,430 (GRCm38)	missense	probably damaging	0.97
R6073:Cc2d2a	UTSW	5	43,729,975 (GRCm38)	missense	probably damaging	1.00
R6084:Cc2d2a	UTSW	5	43,668,673 (GRCm38)	missense	probably benign
R6142:Cc2d2a	UTSW	5	43,703,198 (GRCm38)	missense	probably damaging	0.97
R6176:Cc2d2a	UTSW	5	43,709,113 (GRCm38)	missense	probably benign	0.32
R6238:Cc2d2a	UTSW	5	43,671,235 (GRCm38)	missense	probably benign	0.11
R6381:Cc2d2a	UTSW	5	43,715,776 (GRCm38)	missense	possibly damaging	0.69
R6404:Cc2d2a	UTSW	5	43,704,074 (GRCm38)	missense	possibly damaging	0.58
R6455:Cc2d2a	UTSW	5	43,739,412 (GRCm38)	missense	possibly damaging	0.69
R6695:Cc2d2a	UTSW	5	43,718,677 (GRCm38)	missense	probably damaging	0.99
R6805:Cc2d2a	UTSW	5	43,681,331 (GRCm38)	missense	probably damaging	1.00
R6919:Cc2d2a	UTSW	5	43,703,215 (GRCm38)	missense	probably benign	0.19
R6970:Cc2d2a	UTSW	5	43,718,585 (GRCm38)	missense	probably damaging	1.00
R7024:Cc2d2a	UTSW	5	43,733,929 (GRCm38)	missense	probably benign	0.10
R7054:Cc2d2a	UTSW	5	43,699,979 (GRCm38)	nonsense	probably null
R7071:Cc2d2a	UTSW	5	43,709,113 (GRCm38)	missense	probably benign	0.13
R7098:Cc2d2a	UTSW	5	43,683,139 (GRCm38)	missense	probably benign	0.00
R7366:Cc2d2a	UTSW	5	43,729,990 (GRCm38)	missense	probably damaging	1.00
R7908:Cc2d2a	UTSW	5	43,706,846 (GRCm38)	missense	probably benign	0.00
R7920:Cc2d2a	UTSW	5	43,739,309 (GRCm38)	missense	probably benign	0.09
R7950:Cc2d2a	UTSW	5	43,695,296 (GRCm38)	critical splice donor site	probably null
R8007:Cc2d2a	UTSW	5	43,706,100 (GRCm38)	missense	possibly damaging	0.71
R8117:Cc2d2a	UTSW	5	43,712,439 (GRCm38)	missense	probably damaging	1.00
R8123:Cc2d2a	UTSW	5	43,710,554 (GRCm38)	missense	probably benign
R8179:Cc2d2a	UTSW	5	43,699,953 (GRCm38)	missense	probably damaging	0.96
R8279:Cc2d2a	UTSW	5	43,736,145 (GRCm38)	missense	probably benign	0.01
R8293:Cc2d2a	UTSW	5	43,688,228 (GRCm38)	missense	probably damaging	0.97
R8480:Cc2d2a	UTSW	5	43,685,144 (GRCm38)	splice site	probably null
R8482:Cc2d2a	UTSW	5	43,695,239 (GRCm38)	missense	probably damaging	1.00
R8731:Cc2d2a	UTSW	5	43,735,446 (GRCm38)	missense	probably damaging	1.00
R8780:Cc2d2a	UTSW	5	43,739,350 (GRCm38)	missense	probably damaging	1.00
R8784:Cc2d2a	UTSW	5	43,703,303 (GRCm38)	missense	possibly damaging	0.90
R8871:Cc2d2a	UTSW	5	43,699,943 (GRCm38)	missense	possibly damaging	0.71
R8972:Cc2d2a	UTSW	5	43,710,542 (GRCm38)	missense	probably benign
R9122:Cc2d2a	UTSW	5	43,673,739 (GRCm38)	missense	probably null	0.07
R9125:Cc2d2a	UTSW	5	43,703,221 (GRCm38)	missense	probably benign
R9203:Cc2d2a	UTSW	5	43,733,837 (GRCm38)	missense	probably benign	0.01
R9310:Cc2d2a	UTSW	5	43,695,146 (GRCm38)	missense	probably damaging	1.00
R9343:Cc2d2a	UTSW	5	43,718,657 (GRCm38)	missense	probably damaging	1.00
R9353:Cc2d2a	UTSW	5	43,703,349 (GRCm38)	critical splice donor site	probably null
Z1177:Cc2d2a	UTSW	5	43,703,204 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTAGTAGGCATTCACTGAGCC -3'
(R):5'- CTTGTGCTGCAGTAGAGAAAGC -3'

Sequencing Primer
(F):5'- CACTGAGCCCAACATGGTTAATTTGG -3'
(R):5'- GTTGTCGAGAGCACACACATTCATG -3'

Posted On

2015-02-19