Mutagenetix > Incidental Mutations

Incidental Mutation 'R1700:C2cd2l'

189663

Institutional Source

Beutler Lab

Gene Symbol

C2cd2l

Ensembl Gene

ENSMUSG00000032120

Gene Name

C2 calcium-dependent domain containing 2-like

Synonyms

1300006O23Rik, Tmem24

MMRRC Submission

039733-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1700 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44309237-44320285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44316612 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 111 (P111S)

Ref Sequence

ENSEMBL: ENSMUSP00000149342 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065080
AA Change: P233S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000065233
Gene: ENSMUSG00000032120
AA Change: P233S

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: P233S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214915

Predicted Effect

probably benign
Transcript: ENSMUST00000216222
AA Change: P111S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216855

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,709,938	L1010F	probably damaging	Het
Abcb1b	T	C	5: 8,849,537	F936L	probably benign	Het
Adamts12	T	A	15: 11,152,057	I211N	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Alas1	C	T	9: 106,239,646	V293I	possibly damaging	Het
Ap1g1	T	C	8: 109,853,612	Y569H	probably damaging	Het
Apc2	A	G	10: 80,312,769	D1190G	probably damaging	Het
Astn2	G	A	4: 65,746,354	Q679*	probably null	Het
Atp2a1	T	A	7: 126,462,909	H5L	probably damaging	Het
Baiap3	T	C	17: 25,249,328	K279E	probably damaging	Het
C7	T	A	15: 5,002,792	K646*	probably null	Het
Ccp110	C	T	7: 118,735,313	T1003I	probably damaging	Het
Cdh22	T	C	2: 165,170,796	D123G	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Clip1	A	G	5: 123,630,370	V722A	probably benign	Het
Cpsf4l	A	G	11: 113,702,075	F174S	probably benign	Het
Ctnna3	T	C	10: 63,852,772	C332R	probably damaging	Het
Cxcl10	A	T	5: 92,347,855	N76K	probably damaging	Het
Dnaja3	G	A	16: 4,684,165	R11K	probably null	Het
Efcab10	A	G	12: 33,395,171	T28A	possibly damaging	Het
Esrrg	A	G	1: 188,043,653	R103G	probably damaging	Het
Exosc2	A	G	2: 31,670,806	K23E	probably benign	Het
Flot2	C	T	11: 78,049,547	S40L	possibly damaging	Het
Fsip2	T	C	2: 82,991,737	V5938A	probably benign	Het
Gclc	A	G	9: 77,776,289	T143A	probably benign	Het
Gpr37	A	G	6: 25,669,624	V407A	probably benign	Het
Gucy2e	A	T	11: 69,232,058	M497K	probably benign	Het
Herc1	T	A	9: 66,450,678		probably null	Het
Hnrnpll	A	C	17: 80,034,105	S502A	probably benign	Het
Ipo11	G	T	13: 106,795,662	T975N	probably benign	Het
Kif17	C	T	4: 138,262,698	Q66*	probably null	Het
Lrp10	T	C	14: 54,469,752	V682A	possibly damaging	Het
Lsmem1	A	T	12: 40,180,678	L75Q	probably damaging	Het
Med16	A	T	10: 79,899,335	Y430N	probably benign	Het
Med8	C	T	4: 118,412,734	S72L	possibly damaging	Het
Mex3a	A	G	3: 88,536,375	T253A	probably damaging	Het
Myf6	T	C	10: 107,493,359	K242E	probably damaging	Het
Ncald	T	A	15: 37,397,343	Y31F	probably benign	Het
Ndufa12	T	A	10: 94,199,993	Y48N	probably damaging	Het
Olfr1111	T	G	2: 87,149,779	N294T	probably damaging	Het
Olfr1145	T	C	2: 87,810,768	V316A	probably benign	Het
Olfr638	T	A	7: 104,004,122	Y282*	probably null	Het
Pde4dip	T	C	3: 97,703,323	T1858A	probably benign	Het
Pgbd1	A	G	13: 21,434,481	L2P	probably damaging	Het
Piezo1	C	T	8: 122,487,502	R1642H	probably damaging	Het
Plxna1	A	T	6: 89,357,008	M213K	probably damaging	Het
Polr1b	A	G	2: 129,123,121	N709S	probably damaging	Het
Pramel1	T	A	4: 143,398,429	W308R	probably damaging	Het
Prkag2	A	T	5: 24,871,541	I208N	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rngtt	T	A	4: 33,330,864	F156I	probably damaging	Het
Rpusd3	A	G	6: 113,415,533	*345Q	probably null	Het
Rrp1b	A	G	17: 32,057,204	K575R	probably benign	Het
Shd	G	A	17: 55,974,307	V250I	probably damaging	Het
Slc12a5	C	A	2: 164,992,376	N749K	possibly damaging	Het
Sorbs2	T	A	8: 45,800,984	V488D	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Srsf4	C	A	4: 131,900,560		probably benign	Het
Strn	T	C	17: 78,692,402	Y135C	probably damaging	Het
Synm	T	C	7: 67,759,628	M1V	probably null	Het
Tas1r3	T	G	4: 155,861,570	Q489P	probably benign	Het
Tas2r103	A	T	6: 133,036,811	N97K	probably damaging	Het
Tas2r113	A	G	6: 132,893,792	Y261C	possibly damaging	Het
Tex21	T	C	12: 76,221,672	E112G	probably damaging	Het
Trappc8	T	C	18: 20,832,998	S1128G	probably damaging	Het
Ubap1l	A	G	9: 65,371,743		probably benign	Het
Ubash3a	A	G	17: 31,215,044	D121G	probably damaging	Het
Ubxn4	A	G	1: 128,252,286	I56V	possibly damaging	Het
Uri1	T	C	7: 37,963,524	I348M	probably damaging	Het
Usp21	C	A	1: 171,283,722	L379F	probably damaging	Het
Vmn1r159	T	A	7: 22,842,965	H214L	probably damaging	Het
Zdbf2	A	G	1: 63,302,741	E93G	unknown	Het

Other mutations in C2cd2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:C2cd2l	APN	9	44317103	missense	probably damaging	1.00
IGL01304:C2cd2l	APN	9	44319587	missense	probably damaging	0.96
IGL02402:C2cd2l	APN	9	44316581	missense	probably benign	0.31
R0701:C2cd2l	UTSW	9	44316202	missense	probably damaging	1.00
R0883:C2cd2l	UTSW	9	44316202	missense	probably damaging	1.00
R1321:C2cd2l	UTSW	9	44317581	critical splice donor site	probably null
R1594:C2cd2l	UTSW	9	44316773	missense	probably damaging	1.00
R1665:C2cd2l	UTSW	9	44316775	missense	probably benign	0.07
R1739:C2cd2l	UTSW	9	44319743	missense	probably benign	0.26
R1770:C2cd2l	UTSW	9	44316811	missense	probably benign	0.02
R2065:C2cd2l	UTSW	9	44316335	missense	probably benign	0.19
R4669:C2cd2l	UTSW	9	44315025	missense	possibly damaging	0.92
R4835:C2cd2l	UTSW	9	44315145	critical splice donor site	probably null
R4890:C2cd2l	UTSW	9	44311133	missense	probably damaging	1.00
R4916:C2cd2l	UTSW	9	44316560	missense	probably damaging	0.97
R5664:C2cd2l	UTSW	9	44313772	missense	probably damaging	1.00
R6268:C2cd2l	UTSW	9	44317666	missense	probably damaging	1.00
R6339:C2cd2l	UTSW	9	44313491	splice site	probably benign
R7043:C2cd2l	UTSW	9	44316551	missense	probably damaging	1.00
R7236:C2cd2l	UTSW	9	44317663	missense	possibly damaging	0.71
R7532:C2cd2l	UTSW	9	44315384	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- AGATGCTCGAAGCTGCCGTAAG -3'
(R):5'- TCAGCCTGGAGGAAATCCCTGATG -3'

Sequencing Primer
(F):5'- TCGAAGCTGCCGTAAGAATAATC -3'
(R):5'- GAAATCCCTGATGAGGGGC -3'

Posted On

2014-05-14