Mutagenetix > Incidental Mutation

Incidental Mutation 'R6869:Cc2d2b'

536120

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2b

Ensembl Gene

ENSMUSG00000108929

Gene Name

coiled-coil and C2 domain containing 2B

Synonyms

EG668310

MMRRC Submission

044966-MU

Accession Numbers

Essential gene?

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

Stock #

R6869 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40737197-40816187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40797898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1105 (H1105Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153384 (fasta)

Gene Model

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

AlphaFold

A0A286YDU8

Predicted Effect

unknown
Transcript: ENSMUST00000207801
AA Change: H839Q

Predicted Effect

probably benign
Transcript: ENSMUST00000224596
AA Change: H1105Q

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,507,042 (GRCm39)		probably null	Het
Ankdd1b	A	T	13: 96,580,799 (GRCm39)	N166K	possibly damaging	Het
Arhgap30	G	T	1: 171,236,623 (GRCm39)	R999L	probably damaging	Het
Bnc2	T	A	4: 84,211,733 (GRCm39)	D212V	probably damaging	Het
Bpifb5	T	C	2: 154,075,143 (GRCm39)	I357T	probably benign	Het
Catsperb	T	C	12: 101,446,996 (GRCm39)	F208S	probably benign	Het
Chchd6	T	C	6: 89,572,478 (GRCm39)	D17G	probably damaging	Het
Chd6	T	C	2: 160,807,650 (GRCm39)	S1855G	probably benign	Het
Cpe	A	G	8: 65,072,461 (GRCm39)	V143A	probably benign	Het
Cyfip1	T	A	7: 55,557,113 (GRCm39)	V770D	possibly damaging	Het
Cyp1a1	A	T	9: 57,610,067 (GRCm39)	M494L	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
Dnah2	T	A	11: 69,320,297 (GRCm39)	N3924I	probably damaging	Het
F830045P16Rik	T	C	2: 129,316,481 (GRCm39)	E76G	probably damaging	Het
Fam91a1	T	A	15: 58,303,117 (GRCm39)	V342E	probably benign	Het
Fastkd1	G	A	2: 69,533,104 (GRCm39)	A421V	probably benign	Het
Fgf20	T	C	8: 40,734,189 (GRCm39)	Y64C	probably damaging	Het
Gen1	A	T	12: 11,291,442 (GRCm39)	N847K	probably benign	Het
Gm4922	A	T	10: 18,660,263 (GRCm39)	I153K	probably damaging	Het
Gm6619	T	C	6: 131,463,401 (GRCm39)	I6T	unknown	Het
H2-Ab1	T	C	17: 34,486,537 (GRCm39)	Y199H	probably damaging	Het
Hdac7	C	A	15: 97,694,057 (GRCm39)	L737F	probably damaging	Het
Hells	A	G	19: 38,929,079 (GRCm39)	N121D	probably benign	Het
Itga2	G	A	13: 115,012,073 (GRCm39)		probably null	Het
Itgb1	A	G	8: 129,446,516 (GRCm39)	D391G	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lbx1	T	A	19: 45,223,390 (GRCm39)	S93C	probably damaging	Het
Lmod2	T	C	6: 24,604,126 (GRCm39)	M367T	probably benign	Het
Lrrc43	G	A	5: 123,642,339 (GRCm39)		probably null	Het
Man2a2	C	T	7: 80,012,693 (GRCm39)	G574D	probably benign	Het
Mier2	T	G	10: 79,378,503 (GRCm39)	K343T	probably damaging	Het
Msh5	A	T	17: 35,260,810 (GRCm39)		probably null	Het
Mtus1	T	C	8: 41,535,691 (GRCm39)	Q675R	possibly damaging	Het
Ncan	A	T	8: 70,560,557 (GRCm39)	H803Q	probably benign	Het
Nckap5l	A	G	15: 99,324,334 (GRCm39)	V723A	probably damaging	Het
Nectin3	G	A	16: 46,215,506 (GRCm39)	R79C	probably damaging	Het
Nlrc5	A	G	8: 95,248,583 (GRCm39)	E1735G	probably benign	Het
Nrros	A	G	16: 31,963,249 (GRCm39)	L220S	probably damaging	Het
Or52r1c	G	A	7: 102,735,075 (GRCm39)	V112M	possibly damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Oxa1l	C	T	14: 54,604,195 (GRCm39)	P152S	probably damaging	Het
Pdcd6ip	A	G	9: 113,484,174 (GRCm39)	Y818H	unknown	Het
Pik3cb	A	T	9: 98,942,312 (GRCm39)	S682T	probably benign	Het
Ppp1r3a	A	C	6: 14,754,825 (GRCm39)	S141A	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,349,055 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,463,074 (GRCm39)		probably benign	Het
Rcbtb1	T	C	14: 59,455,051 (GRCm39)	V95A	probably benign	Het
Retreg3	G	A	11: 101,010,644 (GRCm39)		probably benign	Het
Rhobtb1	T	C	10: 69,106,056 (GRCm39)	L207P	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sh3bgr	A	G	16: 96,007,860 (GRCm39)	Y75C	probably damaging	Het
Strip1	T	C	3: 107,520,761 (GRCm39)	D763G	probably damaging	Het
Stxbp5l	A	T	16: 37,024,810 (GRCm39)	V596E	possibly damaging	Het
Tas2r138	A	G	6: 40,589,355 (GRCm39)	I297T	probably damaging	Het
Topors	A	C	4: 40,261,201 (GRCm39)	N694K	unknown	Het
Tymp	T	C	15: 89,260,894 (GRCm39)	R20G	probably benign	Het
Ubr4	A	G	4: 139,194,538 (GRCm39)	T1144A	possibly damaging	Het
Unc79	A	T	12: 103,079,331 (GRCm39)	Q1636L	probably benign	Het
Vmn1r78	A	G	7: 11,886,676 (GRCm39)	M96V	probably benign	Het
Wfdc8	C	T	2: 164,441,012 (GRCm39)	D244N	possibly damaging	Het
Zbtb49	G	T	5: 38,371,694 (GRCm39)	N62K	probably damaging	Het
Zfp579	G	T	7: 4,997,460 (GRCm39)	D150E	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
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'- AGGCATAGTGTTGAGCTGCC -3'
(R):5'- CCCAGATAAAAGGTGCAGTTG -3'

Sequencing Primer
(F):5'- GCATAGTGTTGAGCTGCCTTAAATC -3'
(R):5'- CTTTAGTCCTAGAACTCAGGAGG -3'

Posted On

2018-10-18