Mutagenetix > Incidental Mutation

Incidental Mutation 'R8784:Cc2d2a'

670468

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2a

Ensembl Gene

ENSMUSG00000039765

Gene Name

coiled-coil and C2 domain containing 2A

Synonyms

b2b1035Clo, 5730509K17Rik

MMRRC Submission

068606-MU

Accession Numbers

Genbank: NM_172274; MGI: 1924487

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R8784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43662346-43740972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43703303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 574 (Y574H)

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: Y574H

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048320
Gene: ENSMUSG00000039765
AA Change: Y574H

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: Y525H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114349
Gene: ENSMUSG00000039765
AA Change: Y525H

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

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,002,601	M614K	probably benign	Het
Adamts7	G	T	9: 90,193,865	V1217L	probably null	Het
Adcyap1r1	T	A	6: 55,481,115	N300K	probably damaging	Het
Atf7ip	A	G	6: 136,599,650	D1017G	probably damaging	Het
Atg2b	A	C	12: 105,639,241	D1488E	probably damaging	Het
Atxn2	A	G	5: 121,795,028	T805A	probably benign	Het
Azi2	A	T	9: 118,055,892	H223L	probably benign	Het
Banp	T	A	8: 122,001,113	S349T	probably damaging	Het
Bicra	A	T	7: 15,971,950	I1522N	probably damaging	Het
Brca2	A	T	5: 150,548,661	R2342*	probably null	Het
C6	T	C	15: 4,793,140	C623R	probably damaging	Het
Cdk5rap3	C	T	11: 96,912,386	C115Y	probably benign	Het
Chrm4	T	A	2: 91,927,688	M147K	probably benign	Het
Cit	A	T	5: 115,846,383	K5*	probably null	Het
Ciz1	T	A	2: 32,370,250	S231T	probably benign	Het
Crebrf	A	G	17: 26,742,546	I206V	probably benign	Het
Cyc1	T	C	15: 76,343,663	S34P	probably benign	Het
Dnah5	A	G	15: 28,387,951	I3185M	probably benign	Het
Dtnbp1	T	C	13: 44,922,226	D347G	unknown	Het
Dzip3	A	T	16: 48,931,265	V767E	probably damaging	Het
E330021D16Rik	G	A	6: 136,401,731	Q34*	probably null	Het
Fam57a	T	C	11: 76,208,115	F237S	probably damaging	Het
Gdf3	A	T	6: 122,606,320	C363S	probably damaging	Het
Glb1l	T	C	1: 75,200,331	K487R	probably damaging	Het
Gm9747	T	C	1: 82,234,281	V67A	unknown	Het
Hoxb2	A	G	11: 96,351,910	T34A	possibly damaging	Het
Ifnk	C	T	4: 35,152,383	R104C	probably damaging	Het
Igfbp1	A	T	11: 7,201,952	I252F	probably damaging	Het
Ighv1-74	T	C	12: 115,802,860	T47A	probably benign	Het
Igkv4-62	A	T	6: 69,399,962	W68R	probably damaging	Het
Il23r	A	G	6: 67,466,417	I234T	probably damaging	Het
Ints2	T	A	11: 86,222,137	I852F	probably damaging	Het
Ints2	G	A	11: 86,225,115	Q763*	probably null	Het
Jhy	T	G	9: 40,960,886	H109P	probably benign	Het
Katna1	T	A	10: 7,738,815	V29D	possibly damaging	Het
Kcng4	T	A	8: 119,626,231	E313D	probably benign	Het
Klf14	T	A	6: 30,958,114	H195L	probably damaging	Het
Lama3	A	G	18: 12,421,155	N472S	probably benign	Het
Layn	A	T	9: 51,059,481	V254E	possibly damaging	Het
Lrba	A	T	3: 86,375,928	S1850C	probably damaging	Het
Map1s	A	G	8: 70,906,265	I2V	unknown	Het
Map3k12	T	A	15: 102,505,362	Q58L	possibly damaging	Het
Minpp1	T	C	19: 32,513,996	V358A	probably benign	Het
Mymk	C	G	2: 27,071,935	K27N	possibly damaging	Het
Nek8	T	C	11: 78,172,549	K130E	probably damaging	Het
Ngef	T	A	1: 87,477,571	S706C	probably damaging	Het
Nsun6	G	A	2: 14,996,495	Q417*	probably null	Het
Ntsr2	G	T	12: 16,656,851	Q293H	probably damaging	Het
Ocln	T	A	13: 100,539,542	I148F	probably damaging	Het
Olfr101	A	G	17: 37,299,810	I204T	probably benign	Het
Olfr1180	A	T	2: 88,411,747	Y304N	probably benign	Het
Olfr948	T	A	9: 39,318,693	Q307L	probably benign	Het
Pank3	T	G	11: 35,781,585	F272V	probably damaging	Het
Piezo1	A	T	8: 122,496,589		probably benign	Het
Plppr4	G	A	3: 117,322,541	R556*	probably null	Het
Polr1a	G	T	6: 71,950,628	R821L	probably benign	Het
Ppp1r36	C	T	12: 76,439,193	T375I	probably benign	Het
Ptprj	T	A	2: 90,460,512	I628F	possibly damaging	Het
Puf60	C	A	15: 76,077,676	V29F	unknown	Het
R3hdm2	T	G	10: 127,457,652	S142A	probably damaging	Het
Rassf1	A	G	9: 107,557,842	S179G	probably benign	Het
Rbm6	A	G	9: 107,788,138	S772P	possibly damaging	Het
Rnf103	T	G	6: 71,509,998	S538A	probably benign	Het
Scoc	C	A	8: 83,437,616	V58L	probably benign	Het
Secisbp2l	G	A	2: 125,760,343	Q366*	probably null	Het
Slc16a14	T	C	1: 84,913,063	T174A	probably benign	Het
Slc25a22	A	C	7: 141,431,107	*324G	probably null	Het
Smarca2	C	T	19: 26,776,158	T197I	probably benign	Het
Speg	T	C	1: 75,405,149		probably benign	Het
Srgap2	T	A	1: 131,295,474	N858I	unknown	Het
Syna	C	T	5: 134,559,869	M75I	probably benign	Het
Tbc1d22b	T	C	17: 29,599,944	I424T	probably damaging	Het
Tcaf1	T	G	6: 42,679,287	T252P	probably benign	Het
Thbs1	A	G	2: 118,113,132	D77G	probably damaging	Het
Trim21	T	C	7: 102,559,468	E348G	probably benign	Het
Trpm3	A	G	19: 22,918,676	D959G	probably benign	Het
Ttc24	A	T	3: 88,072,726	C182*	probably null	Het
Tti1	T	C	2: 158,008,594	T242A	probably benign	Het
Ube3b	G	T	5: 114,388,739	C100F	probably damaging	Het
Vmn1r26	T	A	6: 58,008,455	T250S	possibly damaging	Het
Vnn1	A	G	10: 23,904,628	T505A	probably benign	Het
Vps13a	C	A	19: 16,664,789	W2158L	probably damaging	Het
Vwa1	A	T	4: 155,772,888	V151E	probably damaging	Het
Zfp14	A	G	7: 30,043,536	S46P	probably damaging	Het
Zfp773	C	A	7: 7,132,571	C342F	probably benign	Het
Zscan12	T	A	13: 21,363,821	S58T	possibly 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
R0211:Cc2d2a	UTSW	5	43688266	splice site	probably null
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
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'- TTTAGACAAGACCCTGGCAC -3'
(R):5'- TCCCTAACAAAAGAGTCGGAGG -3'

Sequencing Primer
(F):5'- AGCACTATATCTGCTGCATGG -3'
(R):5'- AGGGAGCCCTAGGTGTGG -3'

Posted On

2021-04-30