Mutagenetix > Incidental Mutations

Incidental Mutation 'R4646:C2cd3'

350241

Institutional Source

Beutler Lab

Gene Symbol

C2cd3

Ensembl Gene

ENSMUSG00000047248

Gene Name

C2 calcium-dependent domain containing 3

Synonyms

MMRRC Submission

041907-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100372233-100470152 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 100372450 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032963] [ENSMUST00000051777] [ENSMUST00000098259] [ENSMUST00000133464]

Predicted Effect

probably benign
Transcript: ENSMUST00000032963

SMART Domains

Protein: ENSMUSP00000032963
Gene: ENSMUSG00000030718

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
Pfam:Hydrolase_4	73	199	5.2e-13	PFAM
Pfam:Abhydrolase_1	77	356	7.4e-17	PFAM
Pfam:Abhydrolase_5	78	259	1.3e-14	PFAM
Pfam:Abhydrolase_6	79	362	2.4e-27	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000051777
AA Change: Q3H

SMART Domains

Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248
AA Change: Q3H

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
C2	524	662	2.36e1	SMART
C2	790	899	3.73e0	SMART
C2	989	1129	1.47e1	SMART
C2	1182	1321	1.63e1	SMART
C2	1617	1724	1.43e-2	SMART
low complexity region	1892	1906	N/A	INTRINSIC
low complexity region	2037	2049	N/A	INTRINSIC
low complexity region	2110	2125	N/A	INTRINSIC
low complexity region	2180	2197	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000098259
AA Change: Q3H

SMART Domains

Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248
AA Change: Q3H

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
C2	524	662	2.36e1	SMART
C2	790	899	3.73e0	SMART
C2	989	1129	1.47e1	SMART
C2	1182	1321	1.63e1	SMART
C2	1617	1724	1.43e-2	SMART
low complexity region	1892	1906	N/A	INTRINSIC
low complexity region	2037	2049	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000133464
AA Change: Q3H

SMART Domains

Protein: ENSMUSP00000118864
Gene: ENSMUSG00000047248
AA Change: Q3H

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208168

Coding Region Coverage

1x: 99.0%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 102,860,909	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,293,598	Y232F	probably benign	Het
Acadl	A	T	1: 66,831,443	S428R	probably benign	Het
Adamts10	A	G	17: 33,545,555	D683G	probably damaging	Het
Angptl4	G	A	17: 33,781,299	P32S	probably benign	Het
Apob	A	G	12: 8,012,759	N134S	probably benign	Het
Atr	G	A	9: 95,871,197		probably null	Het
B4galnt1	G	A	10: 127,167,836	V223M	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
C1galt1c1	A	T	X: 38,631,472	S216T	probably benign	Het
Clca4b	A	C	3: 144,928,525	H102Q	probably benign	Het
Cntrl	T	C	2: 35,149,461	I557T	probably damaging	Het
Col26a1	G	A	5: 136,847,550	S72F	probably damaging	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
Csmd1	T	C	8: 15,932,511	I2719V	possibly damaging	Het
Cul9	C	T	17: 46,539,017	W502*	probably null	Het
Dazl	A	T	17: 50,288,155	F84I	probably damaging	Het
Dcaf1	G	T	9: 106,846,807	R478L	probably benign	Het
Dock5	T	G	14: 67,842,779	I198L	probably benign	Het
Dock9	A	T	14: 121,586,246	L1428H	probably damaging	Het
Dync1li1	T	A	9: 114,709,169	V198E	probably damaging	Het
E130309D02Rik	A	T	5: 143,307,985	W246R	probably damaging	Het
Egf	A	T	3: 129,720,276	C429S	probably damaging	Het
Ehmt1	T	C	2: 24,891,684	E7G	probably null	Het
Ercc4	G	T	16: 13,147,574	R690L	probably damaging	Het
Erich5	T	C	15: 34,470,966	C114R	possibly damaging	Het
Etv1	T	C	12: 38,865,686	S428P	possibly damaging	Het
Fam19a5	T	G	15: 87,720,582	S115A	probably damaging	Het
Fbxo31	G	T	8: 121,560,016	F174L	probably benign	Het
Fbxo33	T	A	12: 59,204,431	I433L	probably benign	Het
Fez2	A	T	17: 78,412,928	V99E	probably damaging	Het
Gabarapl2	A	C	8: 111,942,553	K48Q	probably damaging	Het
Gfi1b	T	A	2: 28,610,137	H294L	probably damaging	Het
Gk2	A	G	5: 97,456,197	S261P	probably damaging	Het
Gm7534	G	A	4: 134,202,148	A282V	probably benign	Het
Gpr158	T	C	2: 21,827,053	I988T	probably benign	Het
Grk3	G	C	5: 112,929,720	H394D	probably benign	Het
Grm6	A	G	11: 50,857,206	E381G	probably benign	Het
Gtf3c1	A	T	7: 125,659,094	M1268K	possibly damaging	Het
Hikeshi	A	T	7: 89,923,646	I113N	probably damaging	Het
Hmg20b	T	A	10: 81,348,582	Q129L	probably damaging	Het
Hunk	C	A	16: 90,475,903	T365K	probably damaging	Het
Kdm5a	T	G	6: 120,374,977	V176G	possibly damaging	Het
Kif2a	T	A	13: 106,962,185	E691V	probably damaging	Het
Ly6e	T	C	15: 74,958,661		probably null	Het
Map1b	G	T	13: 99,432,469	P1248Q	unknown	Het
Mettl25	A	G	10: 105,826,555	S185P	probably damaging	Het
Mfap3l	T	A	8: 60,671,150	V142D	probably damaging	Het
Mip	T	A	10: 128,227,053	H122Q	probably benign	Het
Mkx	G	A	18: 6,992,040	T280I	probably benign	Het
Msi1	A	T	5: 115,451,455		probably null	Het
Muc5b	A	G	7: 141,862,640	M3108V	probably benign	Het
Mybl1	A	G	1: 9,672,286	S625P	probably damaging	Het
Myo7b	C	A	18: 31,994,369	V627F	probably benign	Het
Ndst3	A	T	3: 123,672,035	I96N	probably damaging	Het
Nrp1	A	T	8: 128,457,944	T357S	probably benign	Het
Obscn	G	T	11: 59,124,570	Y1050*	probably null	Het
Olfr1212	T	A	2: 88,959,212	F249I	probably damaging	Het
Olfr1386	A	C	11: 49,470,624	I158L	probably benign	Het
Olfr152	T	C	2: 87,783,221	V227A	possibly damaging	Het
Olfr320	A	G	11: 58,684,730	N286D	probably damaging	Het
Olfr710	A	T	7: 106,944,340	N220K	probably benign	Het
Olfr74	A	T	2: 87,973,798	I289K	probably benign	Het
Otof	T	C	5: 30,383,570	E875G	possibly damaging	Het
Pick1	A	T	15: 79,248,937	D399V	probably benign	Het
Pik3c2g	T	A	6: 139,720,018	S22T	probably benign	Het
Pnpla2	A	G	7: 141,458,661	E276G	possibly damaging	Het
Pomk	A	T	8: 25,983,605	S107T	probably damaging	Het
Rbm46	A	T	3: 82,864,458	D283E	probably benign	Het
Rimbp3	A	G	16: 17,213,098	D1462G	probably damaging	Het
Rnf112	T	A	11: 61,452,110	E230V	probably damaging	Het
Rock1	T	C	18: 10,112,391	T455A	probably benign	Het
Rtp4	A	T	16: 23,610,040	M18L	probably benign	Het
Scaf11	A	T	15: 96,420,100		probably null	Het
Schip1	T	C	3: 68,064,964	V8A	probably benign	Het
Sec31b	T	C	19: 44,526,621	H351R	probably benign	Het
Sh3bp5l	A	G	11: 58,346,351	D378G	probably benign	Het
Soga1	T	C	2: 157,020,506	E1501G	probably damaging	Het
Sowahb	T	C	5: 93,042,856	D668G	probably damaging	Het
Spam1	A	G	6: 24,800,587	T442A	probably benign	Het
Syt14	T	A	1: 192,933,325	Y451F	probably damaging	Het
Tdh	A	G	14: 63,493,756	L323P	possibly damaging	Het
Tet2	A	T	3: 133,488,082	M197K	probably benign	Het
Thbs1	G	A	2: 118,118,329	A489T	probably benign	Het
Tnfaip1	C	T	11: 78,529,182	R88Q	probably damaging	Het
Tnn	T	C	1: 160,146,042	M252V	probably benign	Het
Trdn	G	T	10: 33,195,981	E215*	probably null	Het
Trim55	T	C	3: 19,671,122	F268L	probably benign	Het
Trmt112	T	A	19: 6,910,448	V55E	possibly damaging	Het
Tube1	A	G	10: 39,142,367	M147V	possibly damaging	Het
Ubn1	A	G	16: 5,077,987	T966A	probably damaging	Het
Unc80	A	G	1: 66,669,235	I2651V	probably benign	Het
Vmn1r172	G	A	7: 23,660,494	R268H	probably benign	Het
Vmn1r231	T	A	17: 20,890,309	I115F	probably damaging	Het
Vmn1r237	A	G	17: 21,314,138	K41R	probably benign	Het
Vmn2r58	A	T	7: 41,860,511	N547K	probably damaging	Het
Vmn2r74	T	C	7: 85,957,574	D188G	probably benign	Het
Vwa5b2	A	G	16: 20,596,329	K367R	probably damaging	Het
Washc4	T	A	10: 83,574,543	M665K	possibly damaging	Het
Wbp11	T	A	6: 136,821,191	Y236F	probably benign	Het
Wbp4	T	A	14: 79,472,361	I145F	possibly damaging	Het
Wwc2	C	A	8: 47,920,601	D77Y	probably damaging	Het

Other mutations in C2cd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:C2cd3	APN	7	100391128	missense	probably benign	0.14
IGL01420:C2cd3	APN	7	100454858	missense	probably benign	0.35
IGL01775:C2cd3	APN	7	100443431	missense	probably damaging	1.00
IGL01832:C2cd3	APN	7	100427214	missense	possibly damaging	0.94
IGL01883:C2cd3	APN	7	100374486	missense	possibly damaging	0.80
IGL02664:C2cd3	APN	7	100419715	missense	possibly damaging	0.67
IGL02697:C2cd3	APN	7	100427169	unclassified	probably benign
IGL02852:C2cd3	APN	7	100430189	missense	probably damaging	1.00
IGL03158:C2cd3	APN	7	100374476	missense	probably damaging	1.00
R0012:C2cd3	UTSW	7	100418522	missense	possibly damaging	0.52
R0012:C2cd3	UTSW	7	100418522	missense	possibly damaging	0.52
R0013:C2cd3	UTSW	7	100416062	missense	probably damaging	1.00
R0013:C2cd3	UTSW	7	100416062	missense	probably damaging	1.00
R0032:C2cd3	UTSW	7	100444445	unclassified	probably benign
R0032:C2cd3	UTSW	7	100444445	unclassified	probably benign
R0124:C2cd3	UTSW	7	100469518	missense	probably benign
R0387:C2cd3	UTSW	7	100422507	splice site	probably benign
R0522:C2cd3	UTSW	7	100395222	missense	probably benign	0.14
R1124:C2cd3	UTSW	7	100422681	missense	probably benign	0.00
R1484:C2cd3	UTSW	7	100440190	missense	probably damaging	1.00
R1533:C2cd3	UTSW	7	100406077	missense	possibly damaging	0.54
R1631:C2cd3	UTSW	7	100372497	critical splice donor site	probably null
R1875:C2cd3	UTSW	7	100407025	missense	possibly damaging	0.89
R2059:C2cd3	UTSW	7	100455493	unclassified	probably benign
R2060:C2cd3	UTSW	7	100454948	missense	probably damaging	1.00
R2348:C2cd3	UTSW	7	100413366	missense	probably damaging	1.00
R3103:C2cd3	UTSW	7	100395252	missense	possibly damaging	0.47
R3405:C2cd3	UTSW	7	100390166	missense	probably benign	0.01
R3687:C2cd3	UTSW	7	100435833	missense	probably benign	0.28
R3775:C2cd3	UTSW	7	100431998	missense	probably damaging	1.00
R3854:C2cd3	UTSW	7	100454601	critical splice acceptor site	probably null
R4359:C2cd3	UTSW	7	100441089	missense	probably damaging	1.00
R4403:C2cd3	UTSW	7	100432099	missense	probably damaging	1.00
R4446:C2cd3	UTSW	7	100374477	missense	probably damaging	1.00
R4705:C2cd3	UTSW	7	100395188	missense	possibly damaging	0.77
R4770:C2cd3	UTSW	7	100443435	missense	probably damaging	1.00
R4777:C2cd3	UTSW	7	100416332	missense	possibly damaging	0.46
R4816:C2cd3	UTSW	7	100391019	missense	probably benign	0.01
R4842:C2cd3	UTSW	7	100416190	missense	probably benign	0.00
R4858:C2cd3	UTSW	7	100454953	missense	probably damaging	1.00
R4871:C2cd3	UTSW	7	100413374	missense	possibly damaging	0.79
R4898:C2cd3	UTSW	7	100405959	missense	probably damaging	1.00
R5026:C2cd3	UTSW	7	100459842	missense	possibly damaging	0.52
R5112:C2cd3	UTSW	7	100443485	missense	possibly damaging	0.91
R5242:C2cd3	UTSW	7	100390166	missense	probably benign	0.01
R5538:C2cd3	UTSW	7	100455493	critical splice donor site	probably null
R5861:C2cd3	UTSW	7	100444475	unclassified	probably benign
R6110:C2cd3	UTSW	7	100441076	missense	probably damaging	1.00
R6326:C2cd3	UTSW	7	100416428	missense	probably benign	0.02
R6429:C2cd3	UTSW	7	100432091	missense	probably damaging	1.00
R6610:C2cd3	UTSW	7	100455298	missense	probably benign
R6613:C2cd3	UTSW	7	100395241	missense	possibly damaging	0.87
R6631:C2cd3	UTSW	7	100418540	missense	probably damaging	1.00
R6787:C2cd3	UTSW	7	100455346	missense	probably benign
R6837:C2cd3	UTSW	7	100448746	missense	probably damaging	1.00
R6849:C2cd3	UTSW	7	100406927	missense	probably damaging	1.00
R6860:C2cd3	UTSW	7	100390241	missense	probably benign	0.28
R6929:C2cd3	UTSW	7	100451619	missense	probably damaging	1.00
R7026:C2cd3	UTSW	7	100432092	missense	probably damaging	1.00
R7088:C2cd3	UTSW	7	100416181	missense
R7174:C2cd3	UTSW	7	100432198	missense
R7241:C2cd3	UTSW	7	100407050	missense
R7335:C2cd3	UTSW	7	100422603	missense
R7357:C2cd3	UTSW	7	100430103	missense
R7493:C2cd3	UTSW	7	100427226	missense
R7567:C2cd3	UTSW	7	100430815	missense
R7573:C2cd3	UTSW	7	100419707	missense
R7869:C2cd3	UTSW	7	100469491	missense	probably damaging	0.99
R7999:C2cd3	UTSW	7	100459889	critical splice donor site	probably null
R8134:C2cd3	UTSW	7	100418504	missense
R8369:C2cd3	UTSW	7	100395258	missense	probably benign	0.03
R8372:C2cd3	UTSW	7	100455280	nonsense	probably null
X0002:C2cd3	UTSW	7	100440235	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CCGGGAACTGTTGGTGAAAG -3'
(R):5'- CATTTATCGACCCTCAGGCG -3'

Sequencing Primer
(F):5'- GAAAGAGTGTTTCTTCCTGCGTCC -3'
(R):5'- GGGTGGAAGTCTCCTTAG -3'

Posted On

2015-10-08