Mutagenetix > Incidental Mutation

Incidental Mutation 'R1594:C2cd2l'

175570

Institutional Source

Beutler Lab

Gene Symbol

C2cd2l

Ensembl Gene

ENSMUSG00000032120

Gene Name

C2 calcium-dependent domain containing 2-like

Synonyms

Tmem24, 1300006O23Rik

MMRRC Submission

039631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44220534-44231579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44228070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 84 (S84P)

Ref Sequence

ENSEMBL: ENSMUSP00000149342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065080] [ENSMUST00000213160] [ENSMUST00000214602] [ENSMUST00000216222]

AlphaFold

Q80X80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065080
AA Change: S206P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065233
Gene: ENSMUSG00000032120
AA Change: S206P

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	67	79	N/A	INTRINSIC
SCOP:d1qasa2	284	408	4e-3	SMART
Blast:C2	287	395	9e-62	BLAST
low complexity region	417	430	N/A	INTRINSIC
low complexity region	444	452	N/A	INTRINSIC
low complexity region	483	503	N/A	INTRINSIC
low complexity region	566	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213818

Predicted Effect

probably damaging
Transcript: ENSMUST00000214602
AA Change: S206P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214915

Predicted Effect

probably damaging
Transcript: ENSMUST00000216222
AA Change: S84P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216855

Meta Mutation Damage Score

0.2724

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	G	A	16: 30,946,205 (GRCm39)	A264V	probably benign	Het
Adam17	A	G	12: 21,390,471 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,352,602 (GRCm39)	N479D	probably benign	Het
Capn13	A	G	17: 73,658,474 (GRCm39)	V198A	probably benign	Het
Cblc	G	A	7: 19,526,471 (GRCm39)	S206F	probably damaging	Het
Ccdc7b	A	T	8: 129,904,838 (GRCm39)	T159S	possibly damaging	Het
Clpx	A	G	9: 65,231,552 (GRCm39)	T546A	probably damaging	Het
Col18a1	A	G	10: 76,948,870 (GRCm39)	V214A	possibly damaging	Het
Csgalnact1	A	T	8: 68,811,284 (GRCm39)	V462E	probably damaging	Het
Cts6	G	A	13: 61,346,181 (GRCm39)	T202I	probably damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
D630003M21Rik	T	A	2: 158,053,550 (GRCm39)	Q646L	probably damaging	Het
E2f2	A	G	4: 135,914,141 (GRCm39)	Q297R	possibly damaging	Het
Eef1d	T	C	15: 75,768,195 (GRCm39)	E189G	probably damaging	Het
Fam114a2	A	C	11: 57,404,066 (GRCm39)		probably null	Het
Fam24b	A	C	7: 130,928,025 (GRCm39)	Y55D	probably benign	Het
Gimap6	T	C	6: 48,679,125 (GRCm39)	T304A	probably benign	Het
Gm11232	T	C	4: 71,675,572 (GRCm39)	E63G	possibly damaging	Het
Hbs1l	A	G	10: 21,227,922 (GRCm39)	M152V	probably benign	Het
Herc3	C	A	6: 58,864,569 (GRCm39)		probably benign	Het
Hmx2	A	G	7: 131,157,231 (GRCm39)	D115G	probably benign	Het
Igsf3	C	A	3: 101,358,393 (GRCm39)	Y761*	probably null	Het
Kbtbd13	A	G	9: 65,298,901 (GRCm39)	W12R	probably benign	Het
Kif2c	C	A	4: 117,035,385 (GRCm39)	R21L	probably benign	Het
Kmt2c	T	C	5: 25,519,876 (GRCm39)	N2078S	probably benign	Het
Mgst3	T	A	1: 167,201,379 (GRCm39)	Y102F	probably damaging	Het
Mov10	G	T	3: 104,702,727 (GRCm39)	T946N	probably damaging	Het
Nbeal1	T	A	1: 60,344,450 (GRCm39)	I2317N	possibly damaging	Het
Nid2	T	A	14: 19,831,329 (GRCm39)	I741N	probably benign	Het
Nlrp9a	G	A	7: 26,269,932 (GRCm39)	W786*	probably null	Het
Or8g20	A	C	9: 39,396,042 (GRCm39)	I166S	probably benign	Het
Or9a7	T	C	6: 40,521,281 (GRCm39)	I211V	probably benign	Het
Pi4ka	G	T	16: 17,191,283 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,812,310 (GRCm39)		probably benign	Het
Psg16	A	G	7: 16,827,748 (GRCm39)	T144A	probably damaging	Het
Sec24b	A	G	3: 129,785,000 (GRCm39)	V1002A	probably benign	Het
Shank1	A	T	7: 43,976,647 (GRCm39)	K582*	probably null	Het
Slc22a7	T	C	17: 46,748,957 (GRCm39)	D120G	possibly damaging	Het
Slco6c1	T	A	1: 96,990,163 (GRCm39)	T676S	probably benign	Het
Sulf2	A	G	2: 165,926,367 (GRCm39)		probably benign	Het
Tgm1	T	C	14: 55,946,976 (GRCm39)	D344G	probably damaging	Het
Tle4	C	T	19: 14,430,970 (GRCm39)	W604*	probably null	Het
Tmco3	T	C	8: 13,342,052 (GRCm39)	S109P	probably damaging	Het
Unc13d	T	G	11: 115,959,538 (GRCm39)	D647A	probably benign	Het
Usp19	T	C	9: 108,375,721 (GRCm39)	V887A	probably damaging	Het
Vmn2r49	A	T	7: 9,710,550 (GRCm39)	D727E	probably damaging	Het
Ypel1	A	G	16: 16,899,985 (GRCm39)	H72R	probably damaging	Het
Zfp407	A	G	18: 84,227,456 (GRCm39)	V2051A	probably benign	Het
Zfp438	A	G	18: 5,213,515 (GRCm39)	L481P	possibly damaging	Het
Zfp850	C	A	7: 27,688,816 (GRCm39)	R464L	probably benign	Het
Zfp985	T	C	4: 147,667,537 (GRCm39)	V135A	probably benign	Het

Other mutations in C2cd2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:C2cd2l	APN	9	44,228,400 (GRCm39)	missense	probably damaging	1.00
IGL01304:C2cd2l	APN	9	44,230,884 (GRCm39)	missense	probably damaging	0.96
IGL02402:C2cd2l	APN	9	44,227,878 (GRCm39)	missense	probably benign	0.31
R0701:C2cd2l	UTSW	9	44,227,499 (GRCm39)	missense	probably damaging	1.00
R0883:C2cd2l	UTSW	9	44,227,499 (GRCm39)	missense	probably damaging	1.00
R1321:C2cd2l	UTSW	9	44,228,878 (GRCm39)	critical splice donor site	probably null
R1665:C2cd2l	UTSW	9	44,228,072 (GRCm39)	missense	probably benign	0.07
R1700:C2cd2l	UTSW	9	44,227,909 (GRCm39)	missense	probably benign	0.00
R1739:C2cd2l	UTSW	9	44,231,040 (GRCm39)	missense	probably benign	0.26
R1770:C2cd2l	UTSW	9	44,228,108 (GRCm39)	missense	probably benign	0.02
R2065:C2cd2l	UTSW	9	44,227,632 (GRCm39)	missense	probably benign	0.19
R4669:C2cd2l	UTSW	9	44,226,322 (GRCm39)	missense	possibly damaging	0.92
R4835:C2cd2l	UTSW	9	44,226,442 (GRCm39)	critical splice donor site	probably null
R4890:C2cd2l	UTSW	9	44,222,430 (GRCm39)	missense	probably damaging	1.00
R4916:C2cd2l	UTSW	9	44,227,857 (GRCm39)	missense	probably damaging	0.97
R5664:C2cd2l	UTSW	9	44,225,069 (GRCm39)	missense	probably damaging	1.00
R6268:C2cd2l	UTSW	9	44,228,963 (GRCm39)	missense	probably damaging	1.00
R6339:C2cd2l	UTSW	9	44,224,788 (GRCm39)	splice site	probably benign
R7043:C2cd2l	UTSW	9	44,227,848 (GRCm39)	missense	probably damaging	1.00
R7236:C2cd2l	UTSW	9	44,228,960 (GRCm39)	missense	possibly damaging	0.71
R7532:C2cd2l	UTSW	9	44,226,681 (GRCm39)	missense	probably benign	0.41
R8239:C2cd2l	UTSW	9	44,227,502 (GRCm39)	missense	possibly damaging	0.75
R9482:C2cd2l	UTSW	9	44,227,914 (GRCm39)	missense	probably damaging	1.00
R9557:C2cd2l	UTSW	9	44,231,127 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGGTGGGATACACGCAAACCTTC -3'
(R):5'- CAGTTGAGTTGGCCCAGCATTTTC -3'

Sequencing Primer
(F):5'- CTGAGTGCTGACTATAGCGTCC -3'
(R):5'- GCCCAGCATTTTCTCCCTG -3'

Posted On

2014-04-24