Mutagenetix > Incidental Mutation

Incidental Mutation 'R3610:Cc2d2a'

269200

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 #

R3610 (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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	C	A	11: 94,561,346 (GRCm38)	V457L	probably benign	Het
Cacna1a	C	A	8: 84,559,065 (GRCm38)	R733S	probably damaging	Het
Cpeb2	T	C	5: 43,285,933 (GRCm38)	F989S	probably damaging	Het
Dcaf10	G	T	4: 45,372,962 (GRCm38)	E409*	probably null	Het
Ddx3y	T	C	Y: 1,263,928 (GRCm38)	N545S	probably null	Het
Eef2k	A	G	7: 120,889,235 (GRCm38)	S448G	probably benign	Het
Irf2bpl	T	C	12: 86,881,857 (GRCm38)	I681V	probably benign	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791 (GRCm38)		probably benign	Het
Morc2b	A	G	17: 33,136,278 (GRCm38)	V840A	probably damaging	Het
Rcl1	A	G	19: 29,118,230 (GRCm38)	T72A	probably benign	Het
Robo1	T	C	16: 72,983,770 (GRCm38)	F796S	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,579,904 (GRCm38)		probably null	Het
Setx	GTGGCT	GT	2: 29,154,061 (GRCm38)	1814	probably null	Het
Tars	T	C	15: 11,392,904 (GRCm38)	Y152C	probably damaging	Het
Tmem184a	A	G	5: 139,807,955 (GRCm38)		probably null	Het
Tmem8	G	A	17: 26,118,886 (GRCm38)	V415I	probably benign	Het
Tsc2	A	C	17: 24,622,550 (GRCm38)	I365S	possibly damaging	Het
Usp17la	G	A	7: 104,861,072 (GRCm38)	V295I	probably damaging	Het
Vim	A	T	2: 13,578,626 (GRCm38)	H253L	possibly damaging	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
R3611: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'- TGTGCTGCAGTAGAGAAAGC -3'

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

Posted On

2015-02-19