Mutagenetix > Incidental Mutation

Incidental Mutation 'R9764:Cc2d2b'

733179

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2b

Ensembl Gene

ENSMUSG00000108929

Gene Name

coiled-coil and C2 domain containing 2B

Synonyms

EG668310

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R9764 (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 40804299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 942 (D942G)

Ref Sequence

ENSEMBL: ENSMUSP00000146979 (fasta)

Gene Model

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

AlphaFold

A0A286YDU8

Predicted Effect

unknown
Transcript: ENSMUST00000207801
AA Change: D942G

Predicted Effect

probably damaging
Transcript: ENSMUST00000224596
AA Change: D1208G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,738 (GRCm39)	T93A	unknown	Het
Adgrg6	T	A	10: 14,302,515 (GRCm39)	H938L	probably benign	Het
Aff1	A	G	5: 103,997,365 (GRCm39)	Y1153C	probably damaging	Het
Akr1c20	T	A	13: 4,564,388 (GRCm39)	I42L	probably benign	Het
Atad2b	T	A	12: 5,082,064 (GRCm39)	N1324K	probably benign	Het
Aurka	T	A	2: 172,201,760 (GRCm39)	I270F	probably damaging	Het
Camk2g	A	T	14: 20,815,498 (GRCm39)	D189E	probably damaging	Het
Ccnd1	A	C	7: 144,491,770 (GRCm39)	S90A	probably benign	Het
Cfap77	G	T	2: 28,852,741 (GRCm39)	T177K	probably damaging	Het
Chd9	A	G	8: 91,721,220 (GRCm39)	N1003D	unknown	Het
Chga	C	G	12: 102,525,613 (GRCm39)	Q85E	possibly damaging	Het
Cnot1	T	C	8: 96,496,209 (GRCm39)	S322G	probably benign	Het
Cyp8b1	C	A	9: 121,744,294 (GRCm39)	S346I	probably benign	Het
Cysltr2	T	A	14: 73,266,906 (GRCm39)	H268L	probably damaging	Het
Dnah11	T	C	12: 117,884,704 (GRCm39)	T3783A	probably benign	Het
Dock3	C	T	9: 106,959,713 (GRCm39)	V109I	probably benign	Het
Dscc1	A	G	15: 54,953,674 (GRCm39)	C50R	probably benign	Het
Dtx3l	T	A	16: 35,753,277 (GRCm39)	D443V	probably damaging	Het
Ephb6	A	G	6: 41,592,911 (GRCm39)	H383R	probably benign	Het
Fdft1	A	G	14: 63,400,869 (GRCm39)	I88T	probably damaging	Het
Fmo3	C	A	1: 162,794,524 (GRCm39)	W182L	probably benign	Het
Folh1	T	A	7: 86,406,158 (GRCm39)	Q305L	probably benign	Het
Gale	C	T	4: 135,692,975 (GRCm39)	Q73*	probably null	Het
Gm9195	T	C	14: 72,699,885 (GRCm39)	M1154V	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gtsf1l	T	C	2: 162,929,052 (GRCm39)	T144A	probably benign	Het
Itpkc	T	C	7: 26,927,222 (GRCm39)	T231A	probably benign	Het
Kng2	C	A	16: 22,822,737 (GRCm39)	C205F	probably damaging	Het
Ldlrap1	T	G	4: 134,476,661 (GRCm39)	N244T	probably benign	Het
Lingo2	A	G	4: 35,709,750 (GRCm39)	F77L	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,438 (GRCm39)	T256S	possibly damaging	Het
Lrit2	A	G	14: 36,790,936 (GRCm39)	D205G	probably damaging	Het
Lrrc34	T	C	3: 30,697,467 (GRCm39)	D88G	probably damaging	Het
Macf1	T	C	4: 123,366,136 (GRCm39)	E2875G	probably benign	Het
Med13	G	T	11: 86,177,345 (GRCm39)	Q1584K	possibly damaging	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Ndufv2	A	G	17: 66,394,503 (GRCm39)	Y121H	probably damaging	Het
Or4f52	T	A	2: 111,061,521 (GRCm39)	I206F	probably damaging	Het
Peg12	T	C	7: 62,113,297 (GRCm39)	T267A	unknown	Het
Pkig	A	G	2: 163,567,375 (GRCm39)		probably null	Het
Prkch	C	G	12: 73,747,078 (GRCm39)	T319S	probably benign	Het
Rhobtb1	T	C	10: 69,115,202 (GRCm39)	S534P	probably damaging	Het
Riok2	A	G	17: 17,607,814 (GRCm39)	N454S	probably benign	Het
Ryr2	T	A	13: 11,701,935 (GRCm39)	K2907N	possibly damaging	Het
Sdc3	C	T	4: 130,546,048 (GRCm39)	P136S	unknown	Het
Slc37a3	G	A	6: 39,322,844 (GRCm39)	L371F	probably damaging	Het
Slc3a1	A	T	17: 85,371,419 (GRCm39)	H657L	probably damaging	Het
Slc7a13	T	A	4: 19,819,033 (GRCm39)	Y78N	probably benign	Het
Slfn8	G	T	11: 82,907,838 (GRCm39)	A235E	probably damaging	Het
Snap91	T	A	9: 86,707,094 (GRCm39)	D232V	possibly damaging	Het
Stap2	C	A	17: 56,309,914 (GRCm39)	S79I	probably damaging	Het
Stra6l	T	C	4: 45,884,602 (GRCm39)	V544A	probably damaging	Het
Syn2	T	C	6: 115,251,219 (GRCm39)		probably null	Het
Tctn1	G	A	5: 122,388,527 (GRCm39)	P284S	possibly damaging	Het
Terb2	G	A	2: 122,018,475 (GRCm39)	M77I	probably benign	Het
Trim80	G	T	11: 115,338,757 (GRCm39)	R529L	possibly damaging	Het
Washc2	T	C	6: 116,186,048 (GRCm39)	L86P	possibly damaging	Het
Zfp74	A	T	7: 29,631,845 (GRCm39)	F133Y	probably benign	Het
Zfp987	T	A	4: 146,060,752 (GRCm39)	N61K	probably benign	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
R6799:Cc2d2b	UTSW	19	40,779,652 (GRCm39)	missense	possibly damaging	0.69
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
R9798:Cc2d2b	UTSW	19	40,783,080 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTGGGTCTGAGGATTTCTGAAAC -3'
(R):5'- GTTAATCCCTGACCCCACAG -3'

Sequencing Primer
(F):5'- CTGAGGATTTCTGAAACTTTCTTGAC -3'
(R):5'- CAGACTAGTGGGTGCCATGACTTC -3'

Posted On

2022-11-14