Mutagenetix > Incidental Mutations

Incidental Mutation 'R0497:C2cd5'

40529

Institutional Source

Beutler Lab

Gene Symbol

C2cd5

Ensembl Gene

ENSMUSG00000030279

Gene Name

C2 calcium-dependent domain containing 5

Synonyms

5730419I09Rik, C030008B15Rik, CDP138

MMRRC Submission

038693-MU

Accession Numbers

Genbank: NM_001109688; NM_029081; NM_029897

Is this an essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143010920-143100141 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143012093 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 972 (V972A)

Ref Sequence

ENSEMBL: ENSMUSP00000145019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087485] [ENSMUST00000111758] [ENSMUST00000171349] [ENSMUST00000203187] [ENSMUST00000203673] [ENSMUST00000204655] [ENSMUST00000205119]

Predicted Effect

probably benign
Transcript: ENSMUST00000087485
AA Change: V963A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: V963A

Domain	Start	End	E-Value	Type
C2	4	105	1.07e-15	SMART
Blast:C2	127	177	1e-24	BLAST
low complexity region	309	320	N/A	INTRINSIC
low complexity region	350	359	N/A	INTRINSIC
internal_repeat_1	381	453	3.98e-5	PROSPERO
low complexity region	637	653	N/A	INTRINSIC
internal_repeat_1	909	984	3.98e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000111758
AA Change: V963A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: V963A

Domain	Start	End	E-Value	Type
C2	4	105	1.07e-15	SMART
Blast:C2	127	177	1e-24	BLAST
low complexity region	290	317	N/A	INTRINSIC
low complexity region	318	329	N/A	INTRINSIC
low complexity region	359	368	N/A	INTRINSIC
internal_repeat_1	390	462	1.3e-5	PROSPERO
low complexity region	646	662	N/A	INTRINSIC
internal_repeat_1	935	1010	1.3e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000171349
AA Change: V972A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: V972A

Domain	Start	End	E-Value	Type
C2	4	105	1.07e-15	SMART
Blast:C2	127	177	1e-24	BLAST
low complexity region	290	317	N/A	INTRINSIC
low complexity region	318	329	N/A	INTRINSIC
low complexity region	359	368	N/A	INTRINSIC
internal_repeat_1	390	462	1.16e-5	PROSPERO
low complexity region	646	662	N/A	INTRINSIC
internal_repeat_1	918	993	1.16e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000203187
AA Change: V989A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: V989A

Domain	Start	End	E-Value	Type
C2	4	105	1.07e-15	SMART
Blast:C2	127	177	1e-24	BLAST
low complexity region	290	317	N/A	INTRINSIC
low complexity region	318	329	N/A	INTRINSIC
low complexity region	359	368	N/A	INTRINSIC
internal_repeat_1	390	462	1.3e-5	PROSPERO
low complexity region	646	662	N/A	INTRINSIC
internal_repeat_1	935	1010	1.3e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000203673
AA Change: V1025A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: V1025A

Domain	Start	End	E-Value	Type
C2	4	105	7.3e-18	SMART
Blast:C2	127	177	1e-24	BLAST
low complexity region	309	320	N/A	INTRINSIC
low complexity region	361	370	N/A	INTRINSIC
internal_repeat_1	392	464	4.65e-5	PROSPERO
low complexity region	648	664	N/A	INTRINSIC
internal_repeat_1	971	1046	4.65e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204635

Predicted Effect

probably benign
Transcript: ENSMUST00000204655
AA Change: V972A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: V972A

Domain	Start	End	E-Value	Type
C2	4	105	1.07e-15	SMART
Blast:C2	127	177	1e-24	BLAST
low complexity region	290	317	N/A	INTRINSIC
low complexity region	318	329	N/A	INTRINSIC
low complexity region	359	368	N/A	INTRINSIC
internal_repeat_1	390	462	1.16e-5	PROSPERO
low complexity region	646	662	N/A	INTRINSIC
internal_repeat_1	918	993	1.16e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000205119

SMART Domains

Protein: ENSMUSP00000145397
Gene: ENSMUSG00000030279

Domain	Start	End	E-Value	Type
Pfam:C2	3	70	5.4e-14	PFAM

Meta Mutation Damage Score

0.0879

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,147,465	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Chp1	A	G	2: 119,571,782	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,498,355	I335N	probably damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dennd1b	A	G	1: 139,039,986		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966		probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1281	A	G	2: 111,328,830	D137G	probably benign	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Slc22a16	T	G	10: 40,584,967	M255R	probably damaging	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zfp644	A	T	5: 106,638,333	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Zhx3	A	T	2: 160,779,994	L751*	probably null	Het
Znfx1	T	A	2: 167,055,411	Q531L	probably benign	Het

Other mutations in C2cd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:C2cd5	APN	6	143017945	missense	probably null	0.99
IGL01065:C2cd5	APN	6	143078279	missense	probably damaging	0.98
IGL01595:C2cd5	APN	6	143018022	missense	probably damaging	1.00
IGL01654:C2cd5	APN	6	143081407	missense	probably benign	0.06
IGL01917:C2cd5	APN	6	143072596	missense	probably benign
IGL01966:C2cd5	APN	6	143012041	nonsense	probably null
IGL02417:C2cd5	APN	6	143041492	missense	probably damaging	1.00
IGL02616:C2cd5	APN	6	143035111	missense	probably benign	0.10
IGL02745:C2cd5	APN	6	143041530	missense	probably benign	0.17
IGL02819:C2cd5	APN	6	143083220	missense	probably benign	0.33
IGL02926:C2cd5	APN	6	143031237	splice site	probably benign
IGL02969:C2cd5	APN	6	143079943	missense	probably damaging	1.00
IGL03072:C2cd5	APN	6	143079883	missense	possibly damaging	0.89
IGL03226:C2cd5	APN	6	143072566	missense	possibly damaging	0.86
D605:C2cd5	UTSW	6	143029660	missense	probably benign	0.00
R0385:C2cd5	UTSW	6	143041490	missense	probably damaging	1.00
R0644:C2cd5	UTSW	6	143013224	missense	probably damaging	0.99
R0723:C2cd5	UTSW	6	143041555	splice site	probably benign
R0740:C2cd5	UTSW	6	143036263	missense	probably damaging	1.00
R1395:C2cd5	UTSW	6	143061738	splice site	probably benign
R1475:C2cd5	UTSW	6	143072572	missense	possibly damaging	0.47
R1494:C2cd5	UTSW	6	143041346	splice site	probably benign
R1645:C2cd5	UTSW	6	143050126	missense	probably damaging	1.00
R1928:C2cd5	UTSW	6	143013230	missense	probably damaging	1.00
R2253:C2cd5	UTSW	6	143036316	nonsense	probably null
R3934:C2cd5	UTSW	6	143041380	missense	possibly damaging	0.96
R4065:C2cd5	UTSW	6	143073671	missense	probably benign
R4654:C2cd5	UTSW	6	143030184	missense	probably benign	0.00
R4691:C2cd5	UTSW	6	143030148	missense	possibly damaging	0.47
R4972:C2cd5	UTSW	6	143013224	missense	probably damaging	0.99
R5302:C2cd5	UTSW	6	143073756	missense	probably benign	0.02
R5362:C2cd5	UTSW	6	143083243	missense	probably damaging	1.00
R5604:C2cd5	UTSW	6	143012021	missense	probably benign	0.44
R6139:C2cd5	UTSW	6	143035058	missense	probably damaging	0.97
R6165:C2cd5	UTSW	6	143050228	missense	possibly damaging	0.58
R6567:C2cd5	UTSW	6	143031248	missense	possibly damaging	0.86
R6600:C2cd5	UTSW	6	143079976	missense	probably damaging	0.99
R6821:C2cd5	UTSW	6	143017986	missense	probably damaging	1.00
R6838:C2cd5	UTSW	6	143029638	missense	possibly damaging	0.68
R7153:C2cd5	UTSW	6	143019409	missense	probably benign	0.04
R7689:C2cd5	UTSW	6	143050225	nonsense	probably null
X0013:C2cd5	UTSW	6	143067082	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGAAATTCTCAACTCTCCCAGATGTGC -3'
(R):5'- GCTTTAGCAACATCCAGCTTTCACC -3'

Sequencing Primer
(F):5'- GCTATCCAGCCGCATCC -3'
(R):5'- CATAAGGCATGGCCTCTTATTG -3'

Posted On

2013-05-23