Mutagenetix > Incidental Mutations

Incidental Mutation 'R7567:C2cd3'

585514

Institutional Source

Beutler Lab

Gene Symbol

C2cd3

Ensembl Gene

ENSMUSG00000047248

Gene Name

C2 calcium-dependent domain containing 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100372233-100470152 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100430815 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 936 (V936A)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051777
AA Change: V1314A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248
AA Change: V1314A

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

possibly damaging
Transcript: ENSMUST00000098259
AA Change: V1314A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248
AA Change: V1314A

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

SMART Domains

Protein: ENSMUSP00000113360
Gene: ENSMUSG00000047248
AA Change: V936A

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

possibly damaging
Transcript: ENSMUST00000120196
AA Change: V83A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113728
Gene: ENSMUSG00000047248
AA Change: V83A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,008,006	Q464H	probably damaging	Het
1810041L15Rik	G	A	15: 84,406,713	T131M	probably benign	Het
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Abcc5	A	T	16: 20,405,510	S108T	probably damaging	Het
Acss3	T	C	10: 107,123,313	S91G	probably benign	Het
Adgrf4	T	A	17: 42,667,442	I337L	probably benign	Het
Adgrv1	A	G	13: 81,433,529	S4799P	probably benign	Het
Adgrv1	T	C	13: 81,579,477	D348G	probably damaging	Het
Afdn	A	G	17: 13,888,808	D1546G	probably benign	Het
Agr2	A	T	12: 35,995,947	R64S	probably benign	Het
Ankrd13a	T	A	5: 114,789,484		probably null	Het
Apon	T	A	10: 128,255,053	M200K	possibly damaging	Het
Art4	T	C	6: 136,854,430	S238G	possibly damaging	Het
Atp2a2	A	T	5: 122,491,784	V74D	probably benign	Het
Atrnl1	T	C	19: 57,699,523	S807P	probably damaging	Het
B020004J07Rik	T	C	4: 101,837,134	N184S	probably benign	Het
Car15	T	A	16: 17,836,788	H122L	probably damaging	Het
Cav3	A	T	6: 112,472,467	R149W	probably benign	Het
Ccdc8	A	T	7: 16,994,762	I59F	probably damaging	Het
Ccng2	G	A	5: 93,270,872	V119I	probably benign	Het
Ceacam2	A	G	7: 25,527,908	I178T	probably benign	Het
Ces2a	A	G	8: 104,741,298	D520G	probably benign	Het
Cln8	T	C	8: 14,895,057	S124P	probably benign	Het
Coro2a	T	A	4: 46,546,674	D227V	probably damaging	Het
Cpa4	A	C	6: 30,573,890	R32S	probably benign	Het
Creb3l4	G	T	3: 90,242,422	D45E	probably benign	Het
Crybb2	C	T	5: 113,065,893		probably null	Het
Cul7	T	A	17: 46,654,595	H566Q	probably benign	Het
Cyp2b10	A	G	7: 25,914,779	Y226C	probably damaging	Het
Dennd2a	A	T	6: 39,522,809	V274D	probably benign	Het
Dmbt1	G	A	7: 131,061,363		probably null	Het
Drc7	T	C	8: 95,068,056	I363T	probably benign	Het
Drd3	G	A	16: 43,822,684	V396I	probably benign	Het
Eif2ak4	A	G	2: 118,450,314	N1054S	probably benign	Het
Epc1	A	C	18: 6,450,084	V458G	probably damaging	Het
Exoc1	T	A	5: 76,537,715	D91E	probably damaging	Het
Fat4	T	A	3: 38,889,336	F793I	probably damaging	Het
Fhod1	T	C	8: 105,347,837	E6G	unknown	Het
Galnt16	G	A	12: 80,581,310		probably null	Het
Ganc	A	T	2: 120,456,101	T804S	probably benign	Het
Gpam	A	T	19: 55,081,630	V398E	possibly damaging	Het
Gpr68	A	G	12: 100,878,364	V307A	probably benign	Het
Grm7	C	T	6: 111,358,761	S711L	probably damaging	Het
Hemgn	T	A	4: 46,397,034	R67S	probably damaging	Het
Hmg20b	T	C	10: 81,346,659	D281G	possibly damaging	Het
Ifi211	A	C	1: 173,901,835	F277V	probably damaging	Het
Ighmbp2	T	C	19: 3,272,981	I322V	probably benign	Het
Iqce	A	T	5: 140,686,075	L265H	probably damaging	Het
Itgal	G	T	7: 127,299,788	A101S	probably benign	Het
Kif5a	C	T	10: 127,237,379	M647I	probably benign	Het
Kirrel	G	T	3: 87,095,681	T135K	probably damaging	Het
Klf16	T	C	10: 80,576,788	Y138C	probably benign	Het
Klhl7	A	G	5: 24,126,846	T49A	probably benign	Het
Mr1	T	C	1: 155,146,728		probably benign	Het
Mrc1	A	T	2: 14,325,293	I1238F	probably damaging	Het
Ncoa5	C	T	2: 165,004,251	M225I	possibly damaging	Het
Nf1	A	T	11: 79,547,226	T121S	probably damaging	Het
Ngfr	T	C	11: 95,574,321	T234A	probably benign	Het
Ninj1	T	G	13: 49,193,880	F74V	probably damaging	Het
Npffr1	T	C	10: 61,626,309	V408A	probably benign	Het
Nsd2	T	C	5: 33,846,226	V240A	probably damaging	Het
Olfr103	T	A	17: 37,337,171	E20D	probably benign	Het
Olfr1351	T	A	10: 79,017,545	F74L	probably benign	Het
Olfr30	A	G	11: 58,455,166	M261T	probably damaging	Het
Olfr907	G	A	9: 38,499,073	V135I	probably benign	Het
Olfr954	T	C	9: 39,461,877	S146P	possibly damaging	Het
Ovol1	T	C	19: 5,551,586	H136R	probably damaging	Het
Prag1	T	A	8: 36,102,606	D114E	possibly damaging	Het
Prss57	T	A	10: 79,787,400	H71L	probably benign	Het
Ptgs2	T	C	1: 150,102,697	F187L	probably damaging	Het
Ptprz1	A	T	6: 22,959,780	N92I	probably damaging	Het
Rab23	A	T	1: 33,734,731	T91S	possibly damaging	Het
Rag1	A	G	2: 101,643,661	S379P	probably damaging	Het
Ribc2	G	T	15: 85,143,247	D310Y	probably damaging	Het
Rims1	A	G	1: 22,468,210	Y620H	probably damaging	Het
Rnf219	T	C	14: 104,479,378	T520A	probably damaging	Het
Rock1	A	C	18: 10,090,820	V938G	probably benign	Het
Rsph10b	A	G	5: 143,949,426	N314S	possibly damaging	Het
Sertad1	A	G	7: 27,489,902	D216G	possibly damaging	Het
Slco6d1	T	A	1: 98,497,527	V600D	probably damaging	Het
Snapc2	T	C	8: 4,255,314	I232T	probably damaging	Het
Snx13	A	G	12: 35,086,914	S125G	probably damaging	Het
Srcin1	C	T	11: 97,534,725	R502H	probably damaging	Het
Tesmin	A	G	19: 3,392,218	E167G	possibly damaging	Het
Tex10	T	C	4: 48,468,787	I129M	possibly damaging	Het
Tmem235	A	G	11: 117,864,141	S140G	probably benign	Het
Trim60	T	A	8: 65,001,525	D24V	probably damaging	Het
Ttc39c	A	G	18: 12,689,879	E148G	probably benign	Het
Vmn2r70	G	T	7: 85,565,035	T303K	probably benign	Het
Wdr48	A	T	9: 119,916,828	T426S	possibly damaging	Het
Wdr60	A	T	12: 116,254,510		probably null	Het
Xirp2	A	T	2: 67,515,982	T2856S	probably benign	Het
Zswim8	A	G	14: 20,719,933	N1356S	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
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
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'- GCATTGTCTCAGCCCTGATATATG -3'
(R):5'- GCTACTGTCTTCTCAACATGGC -3'

Sequencing Primer
(F):5'- CTCAGCCCTGATATATGTGTAGAGC -3'
(R):5'- GCACCAGTTTTCCTAAAGTAGGG -3'

Posted On

2019-10-17