Mutagenetix > Incidental Mutations

Incidental Mutation 'R0032:C2cd3'

59411

Institutional Source

Beutler Lab

Gene Symbol

C2cd3

Ensembl Gene

ENSMUSG00000047248

Gene Name

C2 calcium-dependent domain containing 3

Synonyms

MMRRC Submission

038326-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0032 (G1) of strain 731

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100372233-100470152 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 100444445 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051777] [ENSMUST00000098259] [ENSMUST00000120196]

Predicted Effect

probably benign
Transcript: ENSMUST00000051777

SMART Domains

Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248

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

probably benign
Transcript: ENSMUST00000098259

SMART Domains

Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248

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

probably benign
Transcript: ENSMUST00000119647

SMART Domains

Protein: ENSMUSP00000113360
Gene: ENSMUSG00000047248

Domain	Start	End	E-Value	Type
C2	61	199	2.36e1	SMART
C2	327	436	3.73e0	SMART
C2	526	666	1.47e1	SMART
C2	719	858	1.63e1	SMART
C2	1154	1261	1.43e-2	SMART
low complexity region	1429	1443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120196

SMART Domains

Protein: ENSMUSP00000113728
Gene: ENSMUSG00000047248

Domain	Start	End	E-Value	Type
low complexity region	297	308	N/A	INTRINSIC
C2	415	553	1.5e-1	SMART
C2	681	790	2.4e-2	SMART
C2	880	1020	9.5e-2	SMART
C2	1073	1212	1.1e-1	SMART
C2	1508	1615	9e-5	SMART
low complexity region	1783	1797	N/A	INTRINSIC
low complexity region	1928	1940	N/A	INTRINSIC
low complexity region	2001	2016	N/A	INTRINSIC
low complexity region	2071	2087	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184779

Predicted Effect

probably benign
Transcript: ENSMUST00000185084

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (89/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 107,123,295	T97S	probably benign	Het
Adcy1	T	C	11: 7,144,729	S552P	possibly damaging	Het
Arrb1	T	C	7: 99,582,265	F9L	probably damaging	Het
Auts2	G	C	5: 131,440,093	D571E	probably damaging	Het
Ccbe1	T	G	18: 66,291,652	T35P	possibly damaging	Het
Cct6b	G	T	11: 82,753,643	T202K	possibly damaging	Het
Cd86	A	T	16: 36,620,873	S77R	probably damaging	Het
Cdk5rap3	A	T	11: 96,908,753	L412Q	possibly damaging	Het
Cdsn	G	A	17: 35,555,555	G327D	probably damaging	Het
Cfap54	C	T	10: 92,932,697	R188H	probably benign	Het
Clca3a2	T	A	3: 144,816,733	I176F	probably benign	Het
Cop1	T	C	1: 159,325,036		probably null	Het
Cpne8	T	A	15: 90,569,568		probably benign	Het
Ctsg	T	A	14: 56,101,739	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,568,806	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Dennd4c	T	C	4: 86,828,150		probably null	Het
Des	A	G	1: 75,362,166	E195G	possibly damaging	Het
Dicer1	A	T	12: 104,704,798	L995*	probably null	Het
Dnah10	A	G	5: 124,800,891	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,877	T146K	probably benign	Het
Dnmbp	A	C	19: 43,902,719	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,685,898	S829F	probably damaging	Het
Enkur	T	C	2: 21,189,304	I153V	probably benign	Het
Epb41l3	G	T	17: 69,210,384		probably null	Het
Erf	T	C	7: 25,245,075	Y277C	possibly damaging	Het
Fstl5	T	A	3: 76,648,435		probably benign	Het
Fuk	G	A	8: 110,892,103	T341M	possibly damaging	Het
Galnt16	T	C	12: 80,592,469	V419A	probably damaging	Het
Gm10226	A	G	17: 21,692,056	D66G	possibly damaging	Het
Gm15821	T	A	17: 34,212,225		probably benign	Het
Grm3	A	G	5: 9,511,452		probably null	Het
Il11ra1	A	G	4: 41,768,187	E366G	probably damaging	Het
Impdh2	A	G	9: 108,561,661	D71G	probably damaging	Het
Ipo11	A	C	13: 106,834,463		probably benign	Het
Ipo8	A	G	6: 148,810,711	C261R	probably damaging	Het
Iqsec3	T	C	6: 121,473,130	D145G	possibly damaging	Het
Itga11	T	C	9: 62,774,095	F998L	probably benign	Het
Junb	T	C	8: 84,977,786	H215R	probably benign	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,520,665		probably benign	Het
Krt73	T	C	15: 101,794,052	S459G	probably benign	Het
Krt74	T	A	15: 101,761,452		noncoding transcript	Het
Meis3	C	A	7: 16,182,285		probably benign	Het
Mlh3	A	G	12: 85,245,749		probably benign	Het
Mroh2a	GT	GTT	1: 88,256,166		probably null	Het
Naip6	C	T	13: 100,303,237	E341K	probably benign	Het
Nbeal2	G	T	9: 110,637,868		probably benign	Het
Nfx1	T	A	4: 41,015,321	V842E	probably benign	Het
Olfr118	T	A	17: 37,672,487	W155R	probably damaging	Het
Olfr800	T	A	10: 129,660,400	V198D	probably benign	Het
Olfr891	A	G	9: 38,180,608	C72R	probably damaging	Het
Oma1	T	A	4: 103,366,012	S465T	possibly damaging	Het
Opa1	A	T	16: 29,615,069	H574L	probably damaging	Het
Otog	T	A	7: 46,288,213	L1782*	probably null	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Pcsk5	T	C	19: 17,564,815	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,201,432		probably benign	Het
Pilra	T	A	5: 137,831,265	D179V	probably damaging	Het
Piwil1	G	A	5: 128,743,280	S247N	probably benign	Het
Ppp2r1a	G	A	17: 20,945,584		probably benign	Het
Prss58	T	G	6: 40,895,699	T158P	probably benign	Het
Setmar	T	A	6: 108,076,416	C290*	probably null	Het
Slc35e3	T	C	10: 117,744,932	M156V	probably benign	Het
Slc4a5	T	A	6: 83,273,157	I509N	probably damaging	Het
Slit2	G	A	5: 48,256,856	R938Q	probably damaging	Het
Snrpn	A	G	7: 59,985,082	Y168H	probably damaging	Het
Sycn	C	T	7: 28,541,292	A128V	possibly damaging	Het
Synm	C	A	7: 67,733,927	R1329M	possibly damaging	Het
Syt8	T	C	7: 142,439,189	V152A	probably benign	Het
Tcp10a	T	C	17: 7,336,907	M247T	probably benign	Het
Tjp2	A	G	19: 24,108,695	L821S	probably damaging	Het
Tppp2	G	T	14: 51,919,409	R81L	possibly damaging	Het
Trim34b	A	G	7: 104,336,577	D473G	possibly damaging	Het
Trpc3	A	G	3: 36,644,256	I618T	probably damaging	Het
Trpm5	A	T	7: 143,085,241	D264E	probably damaging	Het
Tuba8	A	T	6: 121,225,904	D392V	probably benign	Het
Vmn1r50	C	A	6: 90,107,800	P176T	probably damaging	Het
Vmn1r76	T	C	7: 11,931,267	I7V	probably benign	Het
Vmn2r26	T	A	6: 124,039,899	W441R	possibly damaging	Het
Vmn2r57	T	C	7: 41,399,733		probably null	Het
Zc3h4	T	A	7: 16,434,640	D891E	unknown	Het
Zfp120	A	T	2: 150,117,592	V270E	possibly damaging	Het
Znhit1	G	C	5: 136,985,047	R8G	possibly 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
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
R4646:C2cd3	UTSW	7	100372450	unclassified	probably benign
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'- ACCAGGCACTGTATATTGCTCATCAC -3'
(R):5'- TCGAGAAACCCACACATGCTGTTC -3'

Sequencing Primer
(F):5'- GCTTAGTAATAACCAGTGTGCC -3'
(R):5'- atgaccttctgatgctcctg -3'

Posted On

2013-07-11