Mutagenetix > Incidental Mutation

Incidental Mutation 'R5653:Cc2d2a'

442095

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

043299-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R5653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43662346-43740972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43722462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1127 (N1127S)

Ref Sequence

ENSEMBL: ENSMUSP00000048320 (fasta)

Gene Model

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

AlphaFold

Q8CFW7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048150
AA Change: N1127S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: N1127S

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: N1073S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: N1073S

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	T	C	5: 35,883,412 (GRCm38)	L663P	probably damaging	Het
Atp10d	A	T	5: 72,264,067 (GRCm38)	Q682L	probably benign	Het
Atp8b1	A	G	18: 64,545,197 (GRCm38)	V876A	probably damaging	Het
Bard1	A	T	1: 71,031,429 (GRCm38)	V632E	probably benign	Het
Baz1b	A	T	5: 135,209,097 (GRCm38)	E209V	probably benign	Het
Bmp1	T	A	14: 70,490,094 (GRCm38)	Y683F	probably benign	Het
Cacnb1	A	T	11: 98,009,279 (GRCm38)		probably null	Het
Capza2	G	A	6: 17,654,113 (GRCm38)	A55T	probably damaging	Het
Ccdc13	A	G	9: 121,798,787 (GRCm38)	*255R	probably null	Het
Ddias	G	T	7: 92,858,729 (GRCm38)	N659K	probably damaging	Het
Ddr1	C	T	17: 35,686,508 (GRCm38)	A531T	probably benign	Het
Dnah9	T	C	11: 65,849,980 (GRCm38)	T4127A	probably damaging	Het
Dnajc10	T	A	2: 80,349,368 (GRCm38)	Y749N	probably damaging	Het
Dnm1l	A	G	16: 16,319,489 (GRCm38)	L422P	probably damaging	Het
Edil3	A	T	13: 89,131,812 (GRCm38)	N203I	probably damaging	Het
Egfr	C	T	11: 16,911,617 (GRCm38)	A1132V	probably benign	Het
Entpd7	C	T	19: 43,691,157 (GRCm38)	R50*	probably null	Het
Fam160a1	A	T	3: 85,722,501 (GRCm38)	L40Q	probably damaging	Het
Fat2	T	C	11: 55,310,316 (GRCm38)	D644G	probably damaging	Het
Galnt11	T	A	5: 25,248,858 (GRCm38)	D27E	probably damaging	Het
Gm10801	T	A	2: 98,664,051 (GRCm38)	F158I	probably damaging	Het
Gm37240	A	G	3: 84,497,795 (GRCm38)	F234L	probably damaging	Het
Gtf2ird1	A	T	5: 134,410,967 (GRCm38)	F136L	probably damaging	Het
Hspa1l	T	C	17: 34,977,420 (GRCm38)	V145A	probably damaging	Het
Ice2	A	G	9: 69,428,380 (GRCm38)	T882A	probably benign	Het
Itgb4	C	T	11: 115,984,157 (GRCm38)	R447W	probably benign	Het
Kat6b	A	G	14: 21,669,372 (GRCm38)	N1264S	probably benign	Het
Kcnq4	C	A	4: 120,702,411 (GRCm38)	V531L	probably benign	Het
Kif9	A	T	9: 110,524,931 (GRCm38)	K790N	probably damaging	Het
Lipe	T	A	7: 25,398,408 (GRCm38)	I37L	probably benign	Het
Lrrc43	A	G	5: 123,499,580 (GRCm38)	D270G	probably damaging	Het
Mon2	A	G	10: 123,026,094 (GRCm38)	Y782H	probably damaging	Het
Mrpl52	T	C	14: 54,427,229 (GRCm38)	S49P	probably damaging	Het
Olfr132	T	A	17: 38,131,184 (GRCm38)	T3S	possibly damaging	Het
Olfr177	A	G	16: 58,872,484 (GRCm38)	L222P	probably damaging	Het
Olfr318	G	A	11: 58,720,251 (GRCm38)	H266Y	probably damaging	Het
Olfr477	A	T	7: 107,990,385 (GRCm38)	T7S	probably benign	Het
Park2	C	T	17: 11,237,649 (GRCm38)	A119V	probably damaging	Het
Pcbp2	C	T	15: 102,487,089 (GRCm38)	A141V	probably damaging	Het
Pcsk9	T	A	4: 106,458,916 (GRCm38)	Y110F	probably damaging	Het
Plxna4	A	G	6: 32,517,616 (GRCm38)	S22P	possibly damaging	Het
Polq	T	A	16: 37,040,534 (GRCm38)	L506Q	probably damaging	Het
Prx	C	T	7: 27,517,604 (GRCm38)	P510L	probably damaging	Het
Ptpre	T	C	7: 135,653,943 (GRCm38)	F54L	probably damaging	Het
Rspry1	T	G	8: 94,636,611 (GRCm38)		probably null	Het
Tnfrsf11b	A	T	15: 54,259,866 (GRCm38)	L113Q	probably damaging	Het
Tnk1	C	T	11: 69,853,585 (GRCm38)	G411S	probably damaging	Het
Tor3a	A	G	1: 156,656,510 (GRCm38)	L290S	probably damaging	Het
Tril	T	C	6: 53,817,985 (GRCm38)	T751A	probably benign	Het
Tubgcp6	C	T	15: 89,108,612 (GRCm38)	V547I	possibly damaging	Het
Txnrd3	T	C	6: 89,654,085 (GRCm38)	L121P	probably benign	Het
Vmn1r210	T	A	13: 22,827,208 (GRCm38)	R303*	probably null	Het
Vmn2r38	T	C	7: 9,097,765 (GRCm38)	M1V	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
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
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'- GCATGTTTTACTTTGCCTGAGATAG -3'
(R):5'- TTTGGCCTGTAAGAAGTCAGAGAC -3'

Sequencing Primer
(F):5'- CTTTGCCTGAGATAGAAAATGTTCAC -3'
(R):5'- GACTGGCCTGGAACTTACTACATAG -3'

Posted On

2016-11-09