Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02402:C2cd2l'

291935

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C2cd2l

Ensembl Gene

ENSMUSG00000032120

Gene Name

C2 calcium-dependent domain containing 2-like

Synonyms

Tmem24, 1300006O23Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02402

Quality Score

Status

Chromosome

Chromosomal Location

44220534-44231579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44227878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 121 (K121R)

Ref Sequence

ENSEMBL: ENSMUSP00000149342 (fasta)

Gene Model

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

AlphaFold

Q80X80

Predicted Effect

probably benign
Transcript: ENSMUST00000065080
AA Change: K243R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065233
Gene: ENSMUSG00000032120
AA Change: K243R

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 benign
Transcript: ENSMUST00000214602
AA Change: K243R

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214915

Predicted Effect

probably benign
Transcript: ENSMUST00000216222
AA Change: K121R

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216855

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,707,543 (GRCm39)	F568L	probably benign	Het
AW112010	T	A	19: 11,025,741 (GRCm39)		noncoding transcript	Het
Bbs4	A	T	9: 59,237,729 (GRCm39)	L205H	probably benign	Het
Bmal2	T	C	6: 146,711,266 (GRCm39)	V90A	possibly damaging	Het
Car14	A	G	3: 95,806,870 (GRCm39)	V198A	possibly damaging	Het
Cd22	G	T	7: 30,576,955 (GRCm39)	H117Q	possibly damaging	Het
Celf1	T	A	2: 90,829,068 (GRCm39)	I45N	probably damaging	Het
Cluh	T	C	11: 74,547,997 (GRCm39)	S103P	probably damaging	Het
Cyp39a1	T	A	17: 44,002,613 (GRCm39)	L276Q	probably benign	Het
Ddx27	T	G	2: 166,857,245 (GRCm39)		probably benign	Het
Defb4	A	T	8: 19,251,279 (GRCm39)	I49F	possibly damaging	Het
Dock8	C	A	19: 25,055,509 (GRCm39)	T157K	probably benign	Het
Dpp6	T	C	5: 27,839,541 (GRCm39)	V352A	probably damaging	Het
Elmo2	C	T	2: 165,139,312 (GRCm39)	E412K	probably damaging	Het
Eme1	G	A	11: 94,541,733 (GRCm39)	P30S	possibly damaging	Het
Espnl	G	T	1: 91,272,535 (GRCm39)	A632S	probably benign	Het
Gfod1	C	A	13: 43,354,211 (GRCm39)	A255S	probably benign	Het
Helz2	T	A	2: 180,872,704 (GRCm39)	K2432M	probably damaging	Het
Idua	T	C	5: 108,827,657 (GRCm39)	L157P	probably damaging	Het
Ifi207	T	A	1: 173,555,159 (GRCm39)	D848V	probably damaging	Het
Jag1	C	T	2: 136,927,858 (GRCm39)	S851N	possibly damaging	Het
Kat6b	T	A	14: 21,681,415 (GRCm39)	F571I	probably damaging	Het
Lrrc74b	G	A	16: 17,376,028 (GRCm39)		probably benign	Het
Mst1r	A	G	9: 107,794,026 (GRCm39)	K1160E	probably damaging	Het
Muc19	C	A	15: 91,778,192 (GRCm39)		noncoding transcript	Het
Nrg4	G	A	9: 55,135,198 (GRCm39)		probably benign	Het
Ociad1	T	C	5: 73,458,037 (GRCm39)	I12T	possibly damaging	Het
Or1o3	A	G	17: 37,574,111 (GRCm39)	V148A	possibly damaging	Het
Pold3	A	G	7: 99,749,618 (GRCm39)		probably benign	Het
Psmd5	T	C	2: 34,747,784 (GRCm39)	E291G	probably damaging	Het
Ptpn23	A	G	9: 110,222,781 (GRCm39)	V92A	possibly damaging	Het
Rab44	T	A	17: 29,359,490 (GRCm39)	H559Q	probably benign	Het
Rbm6	T	C	9: 107,730,051 (GRCm39)	D199G	probably damaging	Het
Rps18-ps3	C	T	8: 107,989,754 (GRCm39)		noncoding transcript	Het
Septin10	T	C	10: 59,006,758 (GRCm39)	T93A	probably benign	Het
Slmap	T	C	14: 26,184,865 (GRCm39)	T111A	probably damaging	Het
Spata25	C	T	2: 164,670,377 (GRCm39)	M1I	probably null	Het
Spink5	T	A	18: 44,100,171 (GRCm39)	C63S	probably damaging	Het
Sycp3	T	C	10: 88,302,425 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,177,567 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,891,716 (GRCm39)	N940K	probably benign	Het
Tmem106b	A	T	6: 13,081,600 (GRCm39)	Q169L	possibly damaging	Het
Trpm6	G	T	19: 18,764,120 (GRCm39)	C242F	probably benign	Het
Ush2a	T	A	1: 187,999,305 (GRCm39)	M205K	probably benign	Het
Utp18	A	C	11: 93,774,617 (GRCm39)		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
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
R1594:C2cd2l	UTSW	9	44,228,070 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16