Mutagenetix > Incidental Mutation

Incidental Mutation 'R7016:Cc2d2b'

545346

Institutional Source

Beutler Lab

Gene Symbol

Cc2d2b

Ensembl Gene

ENSMUSG00000108929

Gene Name

coiled-coil and C2 domain containing 2B

Synonyms

EG668310

MMRRC Submission

045117-MU

Accession Numbers

Essential gene?

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

Stock #

R7016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40737197-40816187 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40784248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 872 (T872A)

Ref Sequence

ENSEMBL: ENSMUSP00000153384 (fasta)

Gene Model

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

AlphaFold

A0A286YDU8

Predicted Effect

unknown
Transcript: ENSMUST00000207801
AA Change: T682A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224596
AA Change: T872A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,986,843 (GRCm39)	V754D	probably benign	Het
Actn1	T	A	12: 80,219,742 (GRCm39)	M710L	possibly damaging	Het
Adam1a	A	G	5: 121,659,101 (GRCm39)	F64S	probably benign	Het
Aip	G	T	19: 4,171,402 (GRCm39)	D11E	probably benign	Het
Ak7	T	A	12: 105,747,938 (GRCm39)	Y714*	probably null	Het
Amhr2	A	G	15: 102,362,799 (GRCm39)	E522G	possibly damaging	Het
Amotl1	A	G	9: 14,504,995 (GRCm39)	L108P	probably damaging	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Asph	T	C	4: 9,630,604 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
Atp13a3	C	A	16: 30,157,308 (GRCm39)	V903L	possibly damaging	Het
Bcam	G	A	7: 19,492,368 (GRCm39)	R576*	probably null	Het
Btbd2	A	G	10: 80,484,449 (GRCm39)	S141P	probably damaging	Het
Cacna1b	T	C	2: 24,652,860 (GRCm39)	N67S	possibly damaging	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Cep44	A	T	8: 56,997,234 (GRCm39)	F101L	possibly damaging	Het
Cfap410	T	A	10: 77,818,790 (GRCm39)	C154S	probably benign	Het
Cimap1d	T	C	10: 79,475,790 (GRCm39)	Y258C	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc21	G	T	15: 10,461,493 (GRCm39)	Y152*	probably null	Het
Edem2	A	G	2: 155,557,992 (GRCm39)	F214L	possibly damaging	Het
Fam118b	G	A	9: 35,135,014 (GRCm39)	R198W	probably damaging	Het
Fgb	A	G	3: 82,953,371 (GRCm39)	V133A	probably benign	Het
Fsip2	A	G	2: 82,820,979 (GRCm39)	T5571A	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hnf4a	T	A	2: 163,406,193 (GRCm39)	Y277N	probably damaging	Het
Htatip2	A	G	7: 49,420,583 (GRCm39)	D143G	possibly damaging	Het
Itgae	A	G	11: 73,010,342 (GRCm39)	N611D	probably damaging	Het
Ksr1	A	T	11: 78,918,362 (GRCm39)	N515K	probably damaging	Het
Lrp1	C	A	10: 127,395,836 (GRCm39)		probably null	Het
Map3k20	T	A	2: 72,208,979 (GRCm39)	V195D	probably damaging	Het
Meox2	A	G	12: 37,159,223 (GRCm39)	S132G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nell2	T	A	15: 95,127,032 (GRCm39)	N781I	possibly damaging	Het
Or12d16-ps1	G	A	17: 37,706,094 (GRCm39)	G221D	possibly damaging	Het
Or13a22	A	G	7: 140,073,153 (GRCm39)	T201A	probably benign	Het
Or51m1	A	G	7: 103,578,737 (GRCm39)	I236V	probably benign	Het
Or5e1	A	G	7: 108,354,918 (GRCm39)	N285S	probably damaging	Het
Otoa	A	T	7: 120,746,989 (GRCm39)	Q918L	probably damaging	Het
Palld	T	G	8: 61,969,032 (GRCm39)	K1022T	probably damaging	Het
Parp8	A	T	13: 117,031,627 (GRCm39)	S362T	probably damaging	Het
Phrf1	A	G	7: 140,817,476 (GRCm39)	E95G	probably damaging	Het
Pls1	A	T	9: 95,668,994 (GRCm39)	F76I	probably damaging	Het
Pnp	T	A	14: 51,187,706 (GRCm39)		probably null	Het
Ptdss1	A	C	13: 67,120,685 (GRCm39)	M294L	probably benign	Het
Rictor	T	A	15: 6,804,361 (GRCm39)		probably null	Het
Rilp	A	G	11: 75,401,745 (GRCm39)	E175G	probably damaging	Het
Serpina16	T	A	12: 103,641,630 (GRCm39)	T32S	probably benign	Het
Sim1	C	T	10: 50,860,346 (GRCm39)	S736L	probably benign	Het
Smarcc2	T	G	10: 128,321,198 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,480,368 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,426,098 (GRCm39)	W98R	probably damaging	Het
St8sia3	A	T	18: 64,402,654 (GRCm39)	I98F	probably benign	Het
Taf10	A	T	7: 105,393,205 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,626,857 (GRCm39)	V1031E	possibly damaging	Het
Tbc1d4	T	A	14: 101,724,877 (GRCm39)	N580I	probably damaging	Het
Trim12c	A	T	7: 103,997,413 (GRCm39)	C48S		Het
Tsc22d1	C	A	14: 76,654,982 (GRCm39)	T405K	probably damaging	Het
Tubgcp5	A	G	7: 55,443,977 (GRCm39)	D2G	possibly damaging	Het
Wwc2	T	C	8: 48,300,583 (GRCm39)	E960G	unknown	Het
Yme1l1	T	A	2: 23,076,367 (GRCm39)		probably null	Het
Zbtb2	G	C	10: 4,318,646 (GRCm39)	P460R	probably damaging	Het
Zfp62	T	G	11: 49,106,764 (GRCm39)	I285S	probably 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
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
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'- TTACCCCTTAGCCAGCTGACAG -3'
(R):5'- AGGTCTCACTATCCAAATGAAGG -3'

Sequencing Primer
(F):5'- CAGCTGACAGATGCCATTTG -3'
(R):5'- CCAAATGAAGGTTTTAAGGTTTGTTC -3'

Posted On

2019-05-13