Mutagenetix > Incidental Mutation

Incidental Mutation 'R0356:Ccdc202'

29843

Institutional Source

Beutler Lab

Gene Symbol

Ccdc202

Ensembl Gene

ENSMUSG00000034689

Gene Name

coiled-coil domain containing 202

Synonyms

4921530L21Rik, Spertl

MMRRC Submission

038562-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96118690-96120216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96119801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 186 (V186E)

Ref Sequence

ENSEMBL: ENSMUSP00000153934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045892] [ENSMUST00000228913]

AlphaFold

Q9CQ47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045892
AA Change: V186E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044028
Gene: ENSMUSG00000034689
AA Change: V186E

Domain	Start	End	E-Value	Type
coiled coil region	36	62	N/A	INTRINSIC
coiled coil region	127	175	N/A	INTRINSIC
coiled coil region	200	245	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228913
AA Change: V186E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.6%
10x: 94.4%
20x: 86.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,418 (GRCm39)		probably benign	Het
Adgrg6	C	T	10: 14,302,642 (GRCm39)	V924M	possibly damaging	Het
Anxa9	A	G	3: 95,215,387 (GRCm39)		probably benign	Het
Ap3d1	G	T	10: 80,563,812 (GRCm39)	S122R	probably damaging	Het
Arhgap5	T	C	12: 52,563,091 (GRCm39)	S21P	probably damaging	Het
Atp13a5	A	G	16: 29,167,573 (GRCm39)		probably benign	Het
AU040320	A	T	4: 126,731,155 (GRCm39)	D618V	probably damaging	Het
Cbfa2t2	T	A	2: 154,373,269 (GRCm39)	D475E	probably benign	Het
Ccdc62	G	A	5: 124,092,811 (GRCm39)	V599I	probably benign	Het
Cenpj	T	C	14: 56,786,953 (GRCm39)	E917G	probably damaging	Het
Cog5	T	C	12: 31,887,180 (GRCm39)		probably benign	Het
Col9a1	T	A	1: 24,224,328 (GRCm39)	L170*	probably null	Het
Daxx	T	A	17: 34,132,867 (GRCm39)	V627D	probably benign	Het
Dnah9	A	G	11: 66,021,388 (GRCm39)		probably null	Het
Drg2	T	A	11: 60,352,407 (GRCm39)	V203E	probably damaging	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fer1l4	T	C	2: 155,865,930 (GRCm39)	Y1586C	probably damaging	Het
Gp6	A	T	7: 4,373,141 (GRCm39)		probably benign	Het
Hhip	T	C	8: 80,724,121 (GRCm39)	I374V	probably benign	Het
Hspa12b	G	T	2: 130,986,719 (GRCm39)	V547L	possibly damaging	Het
Iars1	G	A	13: 49,856,709 (GRCm39)	V321I	probably benign	Het
Itga8	T	C	2: 12,187,532 (GRCm39)	M716V	possibly damaging	Het
Lcn5	T	C	2: 25,550,705 (GRCm39)	I131T	probably damaging	Het
Mki67	G	A	7: 135,306,135 (GRCm39)	T614M	probably benign	Het
Mmp3	G	A	9: 7,451,768 (GRCm39)	E369K	probably benign	Het
Myt1l	A	G	12: 29,861,500 (GRCm39)	D94G	unknown	Het
Neil1	T	C	9: 57,054,180 (GRCm39)	I47V	possibly damaging	Het
Nr5a2	T	C	1: 136,773,430 (GRCm39)	N424S	possibly damaging	Het
Or1e21	A	T	11: 73,344,906 (GRCm39)	I44N	possibly damaging	Het
Or51f5	A	T	7: 102,424,286 (GRCm39)	D185V	probably damaging	Het
Or5b120	A	G	19: 13,480,441 (GRCm39)	T245A	possibly damaging	Het
Or7e166	G	T	9: 19,624,743 (GRCm39)	G207C	probably damaging	Het
Pakap	C	A	4: 57,855,628 (GRCm39)	T360K	possibly damaging	Het
Pde8b	G	T	13: 95,182,962 (GRCm39)	N265K	probably damaging	Het
Prpf40b	T	C	15: 99,203,080 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,375,107 (GRCm39)	D718G	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,309 (GRCm39)	N175D	possibly damaging	Het
Srgap1	A	T	10: 121,691,441 (GRCm39)		probably null	Het
Tgm5	T	A	2: 120,884,055 (GRCm39)	T313S	probably damaging	Het
Tigar	A	G	6: 127,068,145 (GRCm39)		probably null	Het
Tmprss11b	A	G	5: 86,808,326 (GRCm39)	*417Q	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Ttll11	T	C	2: 35,792,688 (GRCm39)	D385G	possibly damaging	Het
Zfp426	T	C	9: 20,382,541 (GRCm39)	T135A	probably benign	Het

Other mutations in Ccdc202

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0633:Ccdc202	UTSW	14	96,119,379 (GRCm39)	missense	probably damaging	1.00
R1396:Ccdc202	UTSW	14	96,119,987 (GRCm39)	missense	probably benign	0.01
R5561:Ccdc202	UTSW	14	96,119,807 (GRCm39)	missense	probably benign	0.26
R6956:Ccdc202	UTSW	14	96,119,869 (GRCm39)	missense	probably damaging	1.00
R7431:Ccdc202	UTSW	14	96,119,273 (GRCm39)	missense	probably benign	0.15
R7436:Ccdc202	UTSW	14	96,120,027 (GRCm39)	missense	probably benign
R7689:Ccdc202	UTSW	14	96,119,252 (GRCm39)	missense	probably benign
R7720:Ccdc202	UTSW	14	96,119,548 (GRCm39)	missense	probably benign	0.04
R7724:Ccdc202	UTSW	14	96,119,686 (GRCm39)	missense	possibly damaging	0.95
R7821:Ccdc202	UTSW	14	96,119,486 (GRCm39)	missense	possibly damaging	0.91
R8370:Ccdc202	UTSW	14	96,119,930 (GRCm39)	missense	probably damaging	1.00
Z1177:Ccdc202	UTSW	14	96,119,566 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCATCAGGGAGAGGAACCGCATC -3'
(R):5'- TCGAGCACATCAACTTCTGAGGC -3'

Sequencing Primer
(F):5'- CTTTTTGGCAACAGAATCGAGC -3'
(R):5'- GAAGATTATTCCACTCCTGGAGG -3'

Posted On

2013-04-24