Mutagenetix > Incidental Mutation

Incidental Mutation 'R8293:Cc2d2a'

638787

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

067783-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R8293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43662346-43740972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43688228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 329 (I329F)

Ref Sequence

ENSEMBL: ENSMUSP00000048320 (fasta)

Gene Model

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

AlphaFold

Q8CFW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048150
AA Change: I329F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: I329F

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: I280F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: I280F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,002 (GRCm38)	S105P	possibly damaging	Het
4930539E08Rik	T	C	17: 28,902,890 (GRCm38)	K468E	probably benign	Het
A430105I19Rik	T	A	2: 118,761,315 (GRCm38)	T115S	probably damaging	Het
Acsm1	T	G	7: 119,638,096 (GRCm38)	S211A	possibly damaging	Het
Adam4	T	A	12: 81,420,411 (GRCm38)	R479*	probably null	Het
Agap3	A	C	5: 24,487,885 (GRCm38)	S439R	probably damaging	Het
Arap1	A	T	7: 101,400,934 (GRCm38)	H1075L	probably benign	Het
Arhgef28	T	C	13: 97,942,521 (GRCm38)	E1299G	probably benign	Het
Cd200r1	A	G	16: 44,789,721 (GRCm38)	N101S	probably benign	Het
Ces2b	A	C	8: 104,832,626 (GRCm38)	T40P	unknown	Het
Cfap221	A	G	1: 119,981,774 (GRCm38)	V156A	possibly damaging	Het
Chrm4	C	T	2: 91,928,218 (GRCm38)	P324S	probably benign	Het
Chrna1	T	A	2: 73,570,506 (GRCm38)	M227L	probably benign	Het
Cntln	A	G	4: 85,033,838 (GRCm38)	D639G	probably damaging	Het
Cts8	A	G	13: 61,254,068 (GRCm38)	V5A	probably benign	Het
Cxcl2	A	T	5: 90,904,229 (GRCm38)	T65S	probably damaging	Het
Cyp2c39	G	T	19: 39,563,967 (GRCm38)	R368L	probably benign	Het
D630023F18Rik	A	T	1: 65,108,780 (GRCm38)	S205T	probably benign	Het
Dagla	A	T	19: 10,252,037 (GRCm38)		probably null	Het
Dtnbp1	G	A	13: 44,931,139 (GRCm38)	T175I	probably benign	Het
Dtx3	A	G	10: 127,191,013 (GRCm38)	L332P	probably damaging	Het
E2f4	A	G	8: 105,297,819 (GRCm38)	T27A	probably damaging	Het
Ep400	A	G	5: 110,708,892 (GRCm38)	F1163L	unknown	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775 (GRCm38)		probably benign	Het
Fbxo40	T	C	16: 36,970,025 (GRCm38)	D241G	probably benign	Het
Fus	T	C	7: 127,972,577 (GRCm38)	S184P	unknown	Het
Gabarap	C	A	11: 69,992,672 (GRCm38)	T87N	possibly damaging	Het
Gbp10	A	C	5: 105,224,369 (GRCm38)	V175G	probably damaging	Het
Gcm2	A	G	13: 41,103,170 (GRCm38)	Y368H	probably damaging	Het
Heca	A	G	10: 17,902,263 (GRCm38)	Y529H	probably damaging	Het
Incenp	G	A	19: 9,875,133 (GRCm38)	R714*	probably null	Het
Lvrn	C	A	18: 46,850,565 (GRCm38)	T125K	possibly damaging	Het
Ms4a6c	T	A	19: 11,478,296 (GRCm38)	S156R	probably benign	Het
Nab2	C	A	10: 127,666,397 (GRCm38)	R21L	possibly damaging	Het
Neb	A	T	2: 52,246,815 (GRCm38)	M3218K	probably benign	Het
Nwd2	A	G	5: 63,805,320 (GRCm38)	D749G	probably benign	Het
Nxpe5	A	T	5: 138,230,542 (GRCm38)	Q7L	probably benign	Het
Olfr1318	A	T	2: 112,156,253 (GRCm38)	M101L	probably benign	Het
Olfr1335	T	A	4: 118,809,742 (GRCm38)	T41S	probably benign	Het
Olfr481	A	T	7: 108,081,062 (GRCm38)	E89D	probably benign	Het
Olfr943	A	G	9: 39,184,393 (GRCm38)	I72V	possibly damaging	Het
Pla2g5	A	G	4: 138,804,606 (GRCm38)	I29T	probably damaging	Het
Prpf31	C	T	7: 3,640,918 (GRCm38)	T499I	probably damaging	Het
Rnf130	T	A	11: 50,095,796 (GRCm38)	D322E	probably benign	Het
Ros1	T	C	10: 52,087,918 (GRCm38)	N1770D	probably damaging	Het
Sacs	T	A	14: 61,191,099 (GRCm38)	D202E	probably damaging	Het
Simc1	A	G	13: 54,526,546 (GRCm38)	I902M	probably damaging	Het
Slc12a8	A	T	16: 33,540,978 (GRCm38)	M77L	probably benign	Het
Slc35f2	G	A	9: 53,816,940 (GRCm38)	G366D	probably benign	Het
Slc44a2	A	G	9: 21,353,688 (GRCm38)	D674G	probably damaging	Het
Smok2a	A	C	17: 13,226,904 (GRCm38)	E456A	probably benign	Het
Stip1	T	C	19: 7,034,250 (GRCm38)	N139S	probably benign	Het
Taar8c	C	T	10: 24,101,117 (GRCm38)	V266M	probably benign	Het
Tank	T	A	2: 61,644,414 (GRCm38)	I204N	possibly damaging	Het
Tcerg1	A	G	18: 42,560,955 (GRCm38)	T714A	probably benign	Het
Tenm3	A	T	8: 48,367,422 (GRCm38)	F334I	possibly damaging	Het
Ubr1	T	C	2: 120,862,721 (GRCm38)	I1735V	probably benign	Het
Vps13a	A	T	19: 16,668,605 (GRCm38)	S2023T	possibly damaging	Het
Wdfy4	T	C	14: 32,974,261 (GRCm38)	H2741R		Het
Wnt10a	G	T	1: 74,803,217 (GRCm38)	R284L	probably 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
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
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
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'- CCCAAATGGCAGTTTGAAGG -3'
(R):5'- GGGACCTAAGAAATGTCAGCTTC -3'

Sequencing Primer
(F):5'- CCCAAATGGCAGTTTGAAGGTTGAG -3'
(R):5'- CAGTGGACATGTTCTGAGCAGC -3'

Posted On

2020-07-28