Mutagenetix > Incidental Mutation

Incidental Mutation 'R7335:C2cd3'

569438

Institutional Source

Beutler Lab

Gene Symbol

C2cd3

Ensembl Gene

ENSMUSG00000047248

Gene Name

C2 calcium-dependent domain containing 3

Synonyms

MMRRC Submission

045372-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100021440-100119359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100071810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 629 (V629A)

Gene Model

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

AlphaFold

Q52KB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000051777
AA Change: V1007A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062637
Gene: ENSMUSG00000047248
AA Change: V1007A

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 damaging
Transcript: ENSMUST00000098259
AA Change: V1007A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095859
Gene: ENSMUSG00000047248
AA Change: V1007A

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: V629A

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: ENSMUST00000133464

SMART Domains

Protein: ENSMUSP00000118864
Gene: ENSMUSG00000047248

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

Meta Mutation Damage Score

0.1337

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,493,093 (GRCm39)	S35G	probably benign	Het
Adcy6	G	T	15: 98,501,757 (GRCm39)	Q286K	probably benign	Het
Agrn	A	G	4: 156,260,989 (GRCm39)	S676P	probably damaging	Het
Arpp21	A	T	9: 112,005,319 (GRCm39)		probably null	Het
Bmal2	A	G	6: 146,711,217 (GRCm39)	M74V	probably benign	Het
C1rb	A	T	6: 124,552,238 (GRCm39)	I319F	possibly damaging	Het
Cacna1i	T	G	15: 80,259,776 (GRCm39)	F1287C	probably damaging	Het
Catspere2	A	G	1: 177,926,074 (GRCm39)	I247V	probably benign	Het
Cd101	C	G	3: 100,926,045 (GRCm39)	A229P	probably benign	Het
Cdh23	T	C	10: 60,140,895 (GRCm39)	D3151G	probably damaging	Het
Cenpc1	C	A	5: 86,182,212 (GRCm39)	K557N	possibly damaging	Het
Col6a4	G	A	9: 105,954,091 (GRCm39)	T416M	possibly damaging	Het
Cyp2c67	A	T	19: 39,628,451 (GRCm39)	C164*	probably null	Het
Dop1b	A	G	16: 93,544,396 (GRCm39)	E179G	probably benign	Het
Duoxa2	A	T	2: 122,131,821 (GRCm39)	Y170F	possibly damaging	Het
Fras1	A	G	5: 96,884,829 (GRCm39)	K2569R	possibly damaging	Het
Fsip2	C	A	2: 82,813,462 (GRCm39)	H3260Q	probably benign	Het
Gm3402	T	C	5: 146,452,043 (GRCm39)	I121T	probably benign	Het
Herc3	T	A	6: 58,853,773 (GRCm39)	H606Q	possibly damaging	Het
Hmcn2	T	C	2: 31,282,169 (GRCm39)	V1927A	possibly damaging	Het
Hnf4g	A	G	3: 3,717,924 (GRCm39)	H347R	possibly damaging	Het
Hs3st3a1	A	G	11: 64,411,163 (GRCm39)	T234A	probably benign	Het
Hyal1	G	T	9: 107,456,359 (GRCm39)	V379L	probably benign	Het
Ighv1-19	A	G	12: 114,672,571 (GRCm39)		probably benign	Het
Iqcc	T	A	4: 129,510,501 (GRCm39)	Q338L	not run	Het
Kdm5b	T	C	1: 134,488,177 (GRCm39)	V34A	probably damaging	Het
Lgals4	T	C	7: 28,540,571 (GRCm39)	F225L	probably benign	Het
Lmtk3	C	T	7: 45,444,581 (GRCm39)	T1088I	unknown	Het
Magel2	A	T	7: 62,030,524 (GRCm39)	S1143C	unknown	Het
Mapk4	A	T	18: 74,070,338 (GRCm39)	L185Q	possibly damaging	Het
Mtcl2	T	C	2: 156,872,925 (GRCm39)	Q862R	possibly damaging	Het
Ncam1	A	G	9: 49,418,211 (GRCm39)	S1030P		Het
Nynrin	A	T	14: 56,101,371 (GRCm39)	T347S	probably benign	Het
Pak5	T	C	2: 135,940,219 (GRCm39)	T532A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,389 (GRCm39)	E207G	probably damaging	Het
Pde6h	T	C	6: 136,940,211 (GRCm39)	W66R	probably damaging	Het
Pmaip1	T	C	18: 66,591,885 (GRCm39)		probably null	Het
Prkd3	A	G	17: 79,261,995 (GRCm39)	F774S	probably damaging	Het
Prox1	T	A	1: 189,894,042 (GRCm39)	R134S	possibly damaging	Het
Ptpn22	T	A	3: 103,793,335 (GRCm39)	H495Q	probably damaging	Het
Ptprj	G	T	2: 90,271,126 (GRCm39)	Q1201K	probably benign	Het
Rp1l1	A	G	14: 64,269,447 (GRCm39)	S1678G	probably benign	Het
Sez6l	G	T	5: 112,724,678 (GRCm39)		probably null	Het
Sgcg	T	A	14: 61,477,816 (GRCm39)	Y91F	probably damaging	Het
Skint2	C	T	4: 112,481,415 (GRCm39)	L93F	probably damaging	Het
Slc22a22	A	T	15: 57,126,771 (GRCm39)	D99E	probably benign	Het
Slco3a1	A	G	7: 73,934,090 (GRCm39)	I694T	probably damaging	Het
Smurf2	A	T	11: 106,736,911 (GRCm39)	I305N	possibly damaging	Het
Stac3	T	A	10: 127,340,769 (GRCm39)	V178D	probably benign	Het
Suclg2	G	A	6: 95,543,444 (GRCm39)	A329V	probably damaging	Het
Suclg2	T	A	6: 95,543,441 (GRCm39)	N330I	probably damaging	Het
Tas2r118	C	T	6: 23,969,749 (GRCm39)	C104Y	probably damaging	Het
Tom1l2	T	G	11: 60,135,991 (GRCm39)	E327D	probably benign	Het
Trit1	T	C	4: 122,910,572 (GRCm39)	M57T	possibly damaging	Het
Vav1	G	A	17: 57,603,720 (GRCm39)	S134N	probably benign	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Zfp735	T	A	11: 73,602,379 (GRCm39)	V441E	possibly damaging	Het

Other mutations in C2cd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:C2cd3	APN	7	100,040,335 (GRCm39)	missense	probably benign	0.14
IGL01420:C2cd3	APN	7	100,104,065 (GRCm39)	missense	probably benign	0.35
IGL01775:C2cd3	APN	7	100,092,638 (GRCm39)	missense	probably damaging	1.00
IGL01832:C2cd3	APN	7	100,076,421 (GRCm39)	missense	possibly damaging	0.94
IGL01883:C2cd3	APN	7	100,023,693 (GRCm39)	missense	possibly damaging	0.80
IGL02664:C2cd3	APN	7	100,068,922 (GRCm39)	missense	possibly damaging	0.67
IGL02697:C2cd3	APN	7	100,076,376 (GRCm39)	unclassified	probably benign
IGL02852:C2cd3	APN	7	100,079,396 (GRCm39)	missense	probably damaging	1.00
IGL03158:C2cd3	APN	7	100,023,683 (GRCm39)	missense	probably damaging	1.00
R0012:C2cd3	UTSW	7	100,067,729 (GRCm39)	missense	possibly damaging	0.52
R0012:C2cd3	UTSW	7	100,067,729 (GRCm39)	missense	possibly damaging	0.52
R0013:C2cd3	UTSW	7	100,065,269 (GRCm39)	missense	probably damaging	1.00
R0013:C2cd3	UTSW	7	100,065,269 (GRCm39)	missense	probably damaging	1.00
R0032:C2cd3	UTSW	7	100,093,652 (GRCm39)	unclassified	probably benign
R0032:C2cd3	UTSW	7	100,093,652 (GRCm39)	unclassified	probably benign
R0124:C2cd3	UTSW	7	100,118,725 (GRCm39)	missense	probably benign
R0387:C2cd3	UTSW	7	100,071,714 (GRCm39)	splice site	probably benign
R0522:C2cd3	UTSW	7	100,044,429 (GRCm39)	missense	probably benign	0.14
R1124:C2cd3	UTSW	7	100,071,888 (GRCm39)	missense	probably benign	0.00
R1484:C2cd3	UTSW	7	100,089,397 (GRCm39)	missense	probably damaging	1.00
R1533:C2cd3	UTSW	7	100,055,284 (GRCm39)	missense	possibly damaging	0.54
R1631:C2cd3	UTSW	7	100,021,704 (GRCm39)	critical splice donor site	probably null
R1875:C2cd3	UTSW	7	100,056,232 (GRCm39)	missense	possibly damaging	0.89
R2059:C2cd3	UTSW	7	100,104,700 (GRCm39)	unclassified	probably benign
R2060:C2cd3	UTSW	7	100,104,155 (GRCm39)	missense	probably damaging	1.00
R2348:C2cd3	UTSW	7	100,062,573 (GRCm39)	missense	probably damaging	1.00
R3103:C2cd3	UTSW	7	100,044,459 (GRCm39)	missense	possibly damaging	0.47
R3405:C2cd3	UTSW	7	100,039,373 (GRCm39)	missense	probably benign	0.01
R3687:C2cd3	UTSW	7	100,085,040 (GRCm39)	missense	probably benign	0.28
R3775:C2cd3	UTSW	7	100,081,205 (GRCm39)	missense	probably damaging	1.00
R3854:C2cd3	UTSW	7	100,103,808 (GRCm39)	critical splice acceptor site	probably null
R4359:C2cd3	UTSW	7	100,090,296 (GRCm39)	missense	probably damaging	1.00
R4403:C2cd3	UTSW	7	100,081,306 (GRCm39)	missense	probably damaging	1.00
R4446:C2cd3	UTSW	7	100,023,684 (GRCm39)	missense	probably damaging	1.00
R4646:C2cd3	UTSW	7	100,021,657 (GRCm39)	unclassified	probably benign
R4705:C2cd3	UTSW	7	100,044,395 (GRCm39)	missense	possibly damaging	0.77
R4770:C2cd3	UTSW	7	100,092,642 (GRCm39)	missense	probably damaging	1.00
R4777:C2cd3	UTSW	7	100,065,539 (GRCm39)	missense	possibly damaging	0.46
R4816:C2cd3	UTSW	7	100,040,226 (GRCm39)	missense	probably benign	0.01
R4842:C2cd3	UTSW	7	100,065,397 (GRCm39)	missense	probably benign	0.00
R4858:C2cd3	UTSW	7	100,104,160 (GRCm39)	missense	probably damaging	1.00
R4871:C2cd3	UTSW	7	100,062,581 (GRCm39)	missense	possibly damaging	0.79
R4898:C2cd3	UTSW	7	100,055,166 (GRCm39)	missense	probably damaging	1.00
R5026:C2cd3	UTSW	7	100,109,049 (GRCm39)	missense	possibly damaging	0.52
R5112:C2cd3	UTSW	7	100,092,692 (GRCm39)	missense	possibly damaging	0.91
R5242:C2cd3	UTSW	7	100,039,373 (GRCm39)	missense	probably benign	0.01
R5538:C2cd3	UTSW	7	100,104,700 (GRCm39)	critical splice donor site	probably null
R5861:C2cd3	UTSW	7	100,093,682 (GRCm39)	unclassified	probably benign
R6110:C2cd3	UTSW	7	100,090,283 (GRCm39)	missense	probably damaging	1.00
R6326:C2cd3	UTSW	7	100,065,635 (GRCm39)	missense	probably benign	0.02
R6429:C2cd3	UTSW	7	100,081,298 (GRCm39)	missense	probably damaging	1.00
R6610:C2cd3	UTSW	7	100,104,505 (GRCm39)	missense	probably benign
R6613:C2cd3	UTSW	7	100,044,448 (GRCm39)	missense	possibly damaging	0.87
R6631:C2cd3	UTSW	7	100,067,747 (GRCm39)	missense	probably damaging	1.00
R6787:C2cd3	UTSW	7	100,104,553 (GRCm39)	missense	probably benign
R6837:C2cd3	UTSW	7	100,097,953 (GRCm39)	missense	probably damaging	1.00
R6849:C2cd3	UTSW	7	100,056,134 (GRCm39)	missense	probably damaging	1.00
R6860:C2cd3	UTSW	7	100,039,448 (GRCm39)	missense	probably benign	0.28
R6929:C2cd3	UTSW	7	100,100,826 (GRCm39)	missense	probably damaging	1.00
R7026:C2cd3	UTSW	7	100,081,299 (GRCm39)	missense	probably damaging	1.00
R7088:C2cd3	UTSW	7	100,065,388 (GRCm39)	missense
R7174:C2cd3	UTSW	7	100,081,405 (GRCm39)	missense
R7241:C2cd3	UTSW	7	100,056,257 (GRCm39)	missense
R7357:C2cd3	UTSW	7	100,079,310 (GRCm39)	missense
R7493:C2cd3	UTSW	7	100,076,433 (GRCm39)	missense
R7567:C2cd3	UTSW	7	100,080,022 (GRCm39)	missense
R7573:C2cd3	UTSW	7	100,068,914 (GRCm39)	missense
R7869:C2cd3	UTSW	7	100,118,698 (GRCm39)	missense	probably damaging	0.99
R7999:C2cd3	UTSW	7	100,109,096 (GRCm39)	critical splice donor site	probably null
R8134:C2cd3	UTSW	7	100,067,711 (GRCm39)	missense
R8369:C2cd3	UTSW	7	100,044,465 (GRCm39)	missense	probably benign	0.03
R8372:C2cd3	UTSW	7	100,104,487 (GRCm39)	nonsense	probably null
R8753:C2cd3	UTSW	7	100,049,024 (GRCm39)	critical splice donor site	probably null
R8893:C2cd3	UTSW	7	100,104,004 (GRCm39)	missense	probably benign
R8905:C2cd3	UTSW	7	100,074,132 (GRCm39)	critical splice donor site	probably null
R8945:C2cd3	UTSW	7	100,040,286 (GRCm39)	missense	possibly damaging	0.88
R8970:C2cd3	UTSW	7	100,068,971 (GRCm39)	missense
R9000:C2cd3	UTSW	7	100,065,281 (GRCm39)	missense
R9064:C2cd3	UTSW	7	100,059,608 (GRCm39)	missense
R9072:C2cd3	UTSW	7	100,040,291 (GRCm39)	missense	probably benign	0.07
R9126:C2cd3	UTSW	7	100,081,430 (GRCm39)	missense
R9160:C2cd3	UTSW	7	100,075,236 (GRCm39)	missense
R9234:C2cd3	UTSW	7	100,049,012 (GRCm39)	missense
R9258:C2cd3	UTSW	7	100,098,026 (GRCm39)	missense
R9295:C2cd3	UTSW	7	100,081,734 (GRCm39)	missense
R9411:C2cd3	UTSW	7	100,065,704 (GRCm39)	missense
R9420:C2cd3	UTSW	7	100,065,262 (GRCm39)	missense
R9589:C2cd3	UTSW	7	100,081,756 (GRCm39)	missense
R9628:C2cd3	UTSW	7	100,097,961 (GRCm39)	missense
R9629:C2cd3	UTSW	7	100,029,249 (GRCm39)	missense	probably damaging	1.00
R9681:C2cd3	UTSW	7	100,023,662 (GRCm39)	missense	probably benign	0.32
R9775:C2cd3	UTSW	7	100,076,458 (GRCm39)	missense
X0002:C2cd3	UTSW	7	100,089,442 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GCAGCTGTGAGAGTTACATGTAG -3'
(R):5'- GTCATTATCTAGGTGAGATTGGGAAC -3'

Sequencing Primer
(F):5'- AGCTGTGAGAGTTACATGTAGATTTC -3'
(R):5'- TGGGAACAACTAACAAGACAAAATC -3'

Posted On

2019-09-13