Mutagenetix > Incidental Mutation

Incidental Mutation 'R6799:Cc2d2b'

533243

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2b

Ensembl Gene

ENSMUSG00000108929

Gene Name

coiled-coil and C2 domain containing 2B

Synonyms

EG668310

MMRRC Submission

044912-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40737197-40816187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40779652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 697 (E697G)

Ref Sequence

ENSEMBL: ENSMUSP00000153384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000207801] [ENSMUST00000224596]

AlphaFold

A0A286YDU8

Predicted Effect

unknown
Transcript: ENSMUST00000207801
AA Change: E538G

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224596
AA Change: E697G

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	T	5: 144,981,624 (GRCm39)	Y153F	probably damaging	Het
Abcb1b	T	A	5: 8,862,656 (GRCm39)	Y113N	probably damaging	Het
Albfm1	A	G	5: 90,727,474 (GRCm39)	H364R	probably damaging	Het
Anapc1	C	G	2: 128,501,657 (GRCm39)	R795T	probably null	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Arhgap26	A	G	18: 39,232,660 (GRCm39)	N96D	probably damaging	Het
Asxl3	G	T	18: 22,598,457 (GRCm39)	E191*	probably null	Het
Chaf1a	A	T	17: 56,354,059 (GRCm39)	I110F	unknown	Het
Clca4b	A	T	3: 144,621,388 (GRCm39)		probably null	Het
Dagla	C	A	19: 10,234,214 (GRCm39)	V366L	probably damaging	Het
Dapk1	A	G	13: 60,900,049 (GRCm39)	N878S	probably benign	Het
Dapk3	A	G	10: 81,026,096 (GRCm39)	Y129C	probably damaging	Het
Dhx38	A	G	8: 110,279,834 (GRCm39)	L952P	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Dtymk	A	G	1: 93,726,214 (GRCm39)	L15P	probably benign	Het
E330034G19Rik	A	G	14: 24,346,178 (GRCm39)	M30V	probably benign	Het
Egfr	G	A	11: 16,846,952 (GRCm39)	C783Y	probably damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw24	T	A	9: 109,453,998 (GRCm39)	R49S	probably damaging	Het
Fcsk	T	C	8: 111,620,050 (GRCm39)	M276V	probably benign	Het
Gm8797	A	T	3: 5,816,027 (GRCm39)	T22S	probably benign	Het
Hao1	T	C	2: 134,372,685 (GRCm39)	S108G	probably damaging	Het
Hdac4	C	A	1: 91,929,935 (GRCm39)	A184S	probably damaging	Het
Hikeshi	T	A	7: 89,579,553 (GRCm39)		probably benign	Het
Hivep2	C	T	10: 14,004,757 (GRCm39)	R452C	probably benign	Het
Hsdl1	T	C	8: 120,293,169 (GRCm39)	S68G	probably benign	Het
Kctd20	T	C	17: 29,182,351 (GRCm39)		probably null	Het
Klf11	T	C	12: 24,705,638 (GRCm39)	V364A	possibly damaging	Het
Kpna6	A	G	4: 129,551,247 (GRCm39)	L86P	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lpin1	T	A	12: 16,611,045 (GRCm39)	N516Y	probably damaging	Het
Lrp2	T	C	2: 69,314,248 (GRCm39)	Y2161C	probably damaging	Het
Lrrtm3	A	T	10: 63,923,630 (GRCm39)	C512*	probably null	Het
Mfsd1	T	C	3: 67,507,314 (GRCm39)	I405T	probably damaging	Het
Msc	T	G	1: 14,825,491 (GRCm39)	D161A	probably damaging	Het
Mttp	T	C	3: 137,800,841 (GRCm39)	I755V	probably benign	Het
Ncam1	T	C	9: 49,419,911 (GRCm39)	T803A	probably damaging	Het
Nlrp14	A	G	7: 106,795,346 (GRCm39)	I210V	probably benign	Het
Npat	A	T	9: 53,462,930 (GRCm39)	H108L	probably benign	Het
Nt5dc1	A	G	10: 34,189,703 (GRCm39)	I329T	possibly damaging	Het
Or10v5	T	A	19: 11,806,178 (GRCm39)	I71F	possibly damaging	Het
Or51q1c	T	A	7: 103,648,006 (GRCm39)		probably null	Het
Or8b35	T	C	9: 37,904,478 (GRCm39)	L230P	possibly damaging	Het
Parm1	C	T	5: 91,742,070 (GRCm39)	T146I	possibly damaging	Het
Parp2	T	C	14: 51,058,553 (GRCm39)	Y528H	probably damaging	Het
Pias1	G	T	9: 62,789,334 (GRCm39)	S624R	probably benign	Het
Ppif	A	G	14: 25,696,488 (GRCm39)	H95R	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Psg20	A	G	7: 18,418,345 (GRCm39)	Y141H	probably benign	Het
Pygm	A	T	19: 6,448,157 (GRCm39)	Y733F	probably damaging	Het
Rcc1l	A	T	5: 134,205,552 (GRCm39)	M1K	probably null	Het
Rfpl4b	T	C	10: 38,697,341 (GRCm39)	K87E	possibly damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Scn5a	A	C	9: 119,324,688 (GRCm39)	I1380S	possibly damaging	Het
Sel1l	A	G	12: 91,781,742 (GRCm39)		probably null	Het
Slc18a1	T	A	8: 69,493,633 (GRCm39)	I400L	probably benign	Het
Slc30a3	A	G	5: 31,246,958 (GRCm39)	S73P	probably damaging	Het
Slc9a5	A	T	8: 106,090,600 (GRCm39)	N685I	possibly damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trdmt1	A	G	2: 13,520,824 (GRCm39)		probably null	Het
Ttyh1	G	T	7: 4,136,221 (GRCm39)		probably null	Het
Tyms	A	T	5: 30,266,069 (GRCm39)	D283E	probably benign	Het
Vmn2r110	T	A	17: 20,803,798 (GRCm39)	Y259F	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r88	C	A	14: 51,651,426 (GRCm39)	Q255K	probably benign	Het
Vmn2r95	C	T	17: 18,659,555 (GRCm39)	P100S	probably damaging	Het
Zfp128	A	T	7: 12,624,826 (GRCm39)	H398L	possibly damaging	Het

Other mutations in Cc2d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
mortal	UTSW	19	40,797,898 (GRCm39)	missense	probably benign	0.06
Shuffeloff	UTSW	19	40,813,483 (GRCm39)	missense	probably damaging	0.99
1mM(1):Cc2d2b	UTSW	19	40,784,129 (GRCm39)	missense	possibly damaging	0.60
R6163:Cc2d2b	UTSW	19	40,744,950 (GRCm39)	missense	probably benign	0.31
R6481:Cc2d2b	UTSW	19	40,790,839 (GRCm39)	missense	possibly damaging	0.95
R6651:Cc2d2b	UTSW	19	40,766,573 (GRCm39)	missense	probably damaging	0.97
R6747:Cc2d2b	UTSW	19	40,784,111 (GRCm39)	missense	probably benign	0.03
R6857:Cc2d2b	UTSW	19	40,759,309 (GRCm39)	missense	possibly damaging	0.62
R6869:Cc2d2b	UTSW	19	40,797,898 (GRCm39)	missense	probably benign	0.06
R6881:Cc2d2b	UTSW	19	40,813,483 (GRCm39)	missense	probably damaging	0.99
R6900:Cc2d2b	UTSW	19	40,813,518 (GRCm39)	missense	probably null	0.08
R6902:Cc2d2b	UTSW	19	40,804,733 (GRCm39)	missense	possibly damaging	0.93
R6960:Cc2d2b	UTSW	19	40,773,506 (GRCm39)	missense	possibly damaging	0.85
R7016:Cc2d2b	UTSW	19	40,784,248 (GRCm39)	missense	possibly damaging	0.85
R7039:Cc2d2b	UTSW	19	40,790,845 (GRCm39)	missense	probably damaging	1.00
R7072:Cc2d2b	UTSW	19	40,748,803 (GRCm39)	missense	unknown
R7192:Cc2d2b	UTSW	19	40,762,881 (GRCm39)	missense	unknown
R7226:Cc2d2b	UTSW	19	40,779,751 (GRCm39)	missense	unknown
R7303:Cc2d2b	UTSW	19	40,797,438 (GRCm39)	missense	unknown
R7324:Cc2d2b	UTSW	19	40,797,552 (GRCm39)	missense	unknown
R7503:Cc2d2b	UTSW	19	40,783,056 (GRCm39)	missense	unknown
R7727:Cc2d2b	UTSW	19	40,744,974 (GRCm39)	missense	probably benign	0.03
R7774:Cc2d2b	UTSW	19	40,754,161 (GRCm39)	missense	unknown
R7830:Cc2d2b	UTSW	19	40,753,801 (GRCm39)	missense	possibly damaging	0.95
R7923:Cc2d2b	UTSW	19	40,795,293 (GRCm39)	missense	possibly damaging	0.93
R7937:Cc2d2b	UTSW	19	40,765,736 (GRCm39)	missense
R8306:Cc2d2b	UTSW	19	40,804,228 (GRCm39)	nonsense	probably null
R8367:Cc2d2b	UTSW	19	40,754,419 (GRCm39)	missense	unknown
R8903:Cc2d2b	UTSW	19	40,797,726 (GRCm39)	missense	unknown
R9056:Cc2d2b	UTSW	19	40,784,216 (GRCm39)	missense	unknown
R9142:Cc2d2b	UTSW	19	40,753,845 (GRCm39)	nonsense	probably null
R9256:Cc2d2b	UTSW	19	40,797,848 (GRCm39)	missense	unknown
R9373:Cc2d2b	UTSW	19	40,784,167 (GRCm39)	missense	unknown
R9500:Cc2d2b	UTSW	19	40,797,840 (GRCm39)	missense	unknown
R9503:Cc2d2b	UTSW	19	40,804,275 (GRCm39)	missense	unknown
R9525:Cc2d2b	UTSW	19	40,773,430 (GRCm39)	missense	probably damaging	0.99
R9534:Cc2d2b	UTSW	19	40,799,068 (GRCm39)	nonsense	probably null
R9667:Cc2d2b	UTSW	19	40,753,927 (GRCm39)	missense	unknown
R9752:Cc2d2b	UTSW	19	40,781,271 (GRCm39)	missense	probably damaging	0.96
R9764:Cc2d2b	UTSW	19	40,804,299 (GRCm39)	missense	unknown
R9798:Cc2d2b	UTSW	19	40,783,080 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTAAGCCGTGATCAGACAGG -3'
(R):5'- AGGTACCTGGAAGACTATGTCTGG -3'

Sequencing Primer
(F):5'- CACATCAGGCAGCGTGTGTATTTC -3'
(R):5'- CCTGGAAGACTATGTCTGGAATCTC -3'

Posted On

2018-09-12