Mutagenetix > Incidental Mutation

Incidental Mutation 'R8370:Ccdc202'

646355

Institutional Source

Beutler Lab

Gene Symbol

Ccdc202

Ensembl Gene

ENSMUSG00000034689

Gene Name

coiled-coil domain containing 202

Synonyms

4921530L21Rik, Spertl

MMRRC Submission

067809-MU

Accession Numbers

Essential gene?

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

Stock #

R8370 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96118690-96120216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96119930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 229 (L229P)

Ref Sequence

ENSEMBL: ENSMUSP00000044028 (fasta)

Gene Model

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

AlphaFold

Q9CQ47

Predicted Effect

probably damaging
Transcript: ENSMUST00000045892
AA Change: L229P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044028
Gene: ENSMUSG00000034689
AA Change: L229P

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

probably damaging
Transcript: ENSMUST00000228913
AA Change: L229P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,696,881 (GRCm39)	V92A	possibly damaging	Het
Armc2	T	A	10: 41,799,833 (GRCm39)	N675I	possibly damaging	Het
Cav1	A	G	6: 17,339,293 (GRCm39)	H126R	possibly damaging	Het
Clca4b	A	G	3: 144,631,824 (GRCm39)	F227S	probably damaging	Het
Clec4a4	G	A	6: 122,968,758 (GRCm39)	G41D	probably damaging	Het
Commd1	A	T	11: 22,932,104 (GRCm39)	L51Q	probably damaging	Het
Dhx57	A	T	17: 80,553,192 (GRCm39)	V1245D	probably damaging	Het
Ephb2	A	G	4: 136,383,302 (GRCm39)	I925T	possibly damaging	Het
Eprs1	T	A	1: 185,131,454 (GRCm39)	I700K	probably damaging	Het
Fry	C	A	5: 150,319,284 (GRCm39)	T983K	probably damaging	Het
Gm14325	T	C	2: 177,474,385 (GRCm39)	I232M	probably benign	Het
Golgb1	A	G	16: 36,732,679 (GRCm39)	H683R	probably benign	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kif9	C	T	9: 110,317,681 (GRCm39)	R113C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Lama5	T	C	2: 179,843,280 (GRCm39)	E489G	possibly damaging	Het
Lhb	A	G	7: 45,071,066 (GRCm39)	D97G	probably damaging	Het
Lrp1b	T	C	2: 40,888,117 (GRCm39)	D2381G		Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mmp17	A	G	5: 129,682,642 (GRCm39)	D427G	probably damaging	Het
Mrps18b	T	C	17: 36,223,254 (GRCm39)	I131V	probably benign	Het
Nav1	T	A	1: 135,398,882 (GRCm39)	K567*	probably null	Het
Ncam1	T	A	9: 49,468,431 (GRCm39)	R343*	probably null	Het
Nfrkb	T	A	9: 31,316,875 (GRCm39)	N591K	probably damaging	Het
Numb	A	T	12: 83,854,974 (GRCm39)	C117*	probably null	Het
Or5b123	T	A	19: 13,596,661 (GRCm39)	I2N	probably damaging	Het
Or6ae1	A	T	7: 139,742,681 (GRCm39)	Y61N	probably damaging	Het
Pfpl	A	T	19: 12,407,275 (GRCm39)	N509Y	probably damaging	Het
Prss58	C	A	6: 40,872,358 (GRCm39)	G222C	probably damaging	Het
Ptx4	C	A	17: 25,342,314 (GRCm39)	P263Q	possibly damaging	Het
Ribc2	T	G	15: 85,027,489 (GRCm39)	H323Q	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Smchd1	G	A	17: 71,701,908 (GRCm39)	T1028M	probably benign	Het
Spata31d1e	T	C	13: 59,891,766 (GRCm39)	D18G	probably benign	Het
Srebf1	T	C	11: 60,093,022 (GRCm39)	I806V	probably benign	Het
Trim14	A	T	4: 46,523,711 (GRCm39)	L109Q	probably damaging	Het
Wdfy4	A	T	14: 32,815,208 (GRCm39)	H1602Q		Het
Zbtb48	A	G	4: 152,105,744 (GRCm39)		probably null	Het
Zranb3	T	C	1: 127,895,670 (GRCm39)	E726G	probably benign	Het

Other mutations in Ccdc202

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0356:Ccdc202	UTSW	14	96,119,801 (GRCm39)	missense	possibly damaging	0.92
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
Z1177:Ccdc202	UTSW	14	96,119,566 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATCCCTGTGTGAGGAGACC -3'
(R):5'- CTTCTGAGGCTTCTGACAATAAGG -3'

Sequencing Primer
(F):5'- CTGTGTGAGGAGACCAAGGCTC -3'
(R):5'- GGCTTCTGACAATAAGGTTACACG -3'

Posted On

2020-09-02