Mutagenetix > Incidental Mutation

Incidental Mutation 'D605:C2cd5'

573

Institutional Source

Beutler Lab

Gene Symbol

C2cd5

Ensembl Gene

ENSMUSG00000030279

Gene Name

C2 calcium-dependent domain containing 5

Synonyms

5730419I09Rik, CDP138, C030008B15Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

D605 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

142956646-143045867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142975386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 787 (V787I)

Ref Sequence

ENSEMBL: ENSMUSP00000145019 (fasta)

Gene Model

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

AlphaFold

Q7TPS5

Predicted Effect

probably benign
Transcript: ENSMUST00000087485
AA Change: V778I

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

SMART Domains

Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: V778I

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: V778I

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

SMART Domains

Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: V778I

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: V787I

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

SMART Domains

Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: V787I

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: V787I

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

SMART Domains

Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: V787I

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

noncoding transcript
Transcript: ENSMUST00000203349

Predicted Effect

probably benign
Transcript: ENSMUST00000203673
AA Change: V789I

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

SMART Domains

Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: V789I

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

probably benign
Transcript: ENSMUST00000204655
AA Change: V787I

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

SMART Domains

Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: V787I

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

0.0863

Coding Region Coverage

1x: 75.6%
3x: 45.1%

Het Detection Efficiency

20.0%

Validation Efficiency

89% (63/71)

Allele List at MGI

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

Other mutations in this stock

Total: 4 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Kat2b	A	G	17: 53,936,358 (GRCm39)	R99G	probably damaging	Het
Ly75	A	G	2: 60,182,696 (GRCm39)		probably null	Het
Or5b118	T	A	19: 13,448,521 (GRCm39)	C62*	probably null	Het
Sfmbt2	C	T	2: 10,584,136 (GRCm39)	T864I	probably benign	Het

Other mutations in C2cd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:C2cd5	APN	6	142,963,671 (GRCm39)	missense	probably null	0.99
IGL01065:C2cd5	APN	6	143,024,005 (GRCm39)	missense	probably damaging	0.98
IGL01595:C2cd5	APN	6	142,963,748 (GRCm39)	missense	probably damaging	1.00
IGL01654:C2cd5	APN	6	143,027,133 (GRCm39)	missense	probably benign	0.06
IGL01917:C2cd5	APN	6	143,018,322 (GRCm39)	missense	probably benign
IGL01966:C2cd5	APN	6	142,957,767 (GRCm39)	nonsense	probably null
IGL02417:C2cd5	APN	6	142,987,218 (GRCm39)	missense	probably damaging	1.00
IGL02616:C2cd5	APN	6	142,980,837 (GRCm39)	missense	probably benign	0.10
IGL02745:C2cd5	APN	6	142,987,256 (GRCm39)	missense	probably benign	0.17
IGL02819:C2cd5	APN	6	143,028,946 (GRCm39)	missense	probably benign	0.33
IGL02926:C2cd5	APN	6	142,976,963 (GRCm39)	splice site	probably benign
IGL02969:C2cd5	APN	6	143,025,669 (GRCm39)	missense	probably damaging	1.00
IGL03072:C2cd5	APN	6	143,025,609 (GRCm39)	missense	possibly damaging	0.89
IGL03226:C2cd5	APN	6	143,018,292 (GRCm39)	missense	possibly damaging	0.86
R0385:C2cd5	UTSW	6	142,987,216 (GRCm39)	missense	probably damaging	1.00
R0497:C2cd5	UTSW	6	142,957,819 (GRCm39)	missense	probably benign	0.00
R0644:C2cd5	UTSW	6	142,958,950 (GRCm39)	missense	probably damaging	0.99
R0723:C2cd5	UTSW	6	142,987,281 (GRCm39)	splice site	probably benign
R0740:C2cd5	UTSW	6	142,981,989 (GRCm39)	missense	probably damaging	1.00
R1395:C2cd5	UTSW	6	143,007,464 (GRCm39)	splice site	probably benign
R1475:C2cd5	UTSW	6	143,018,298 (GRCm39)	missense	possibly damaging	0.47
R1494:C2cd5	UTSW	6	142,987,072 (GRCm39)	splice site	probably benign
R1645:C2cd5	UTSW	6	142,995,852 (GRCm39)	missense	probably damaging	1.00
R1928:C2cd5	UTSW	6	142,958,956 (GRCm39)	missense	probably damaging	1.00
R2253:C2cd5	UTSW	6	142,982,042 (GRCm39)	nonsense	probably null
R3934:C2cd5	UTSW	6	142,987,106 (GRCm39)	missense	possibly damaging	0.96
R4065:C2cd5	UTSW	6	143,019,397 (GRCm39)	missense	probably benign
R4654:C2cd5	UTSW	6	142,975,910 (GRCm39)	missense	probably benign	0.00
R4691:C2cd5	UTSW	6	142,975,874 (GRCm39)	missense	possibly damaging	0.47
R4972:C2cd5	UTSW	6	142,958,950 (GRCm39)	missense	probably damaging	0.99
R5302:C2cd5	UTSW	6	143,019,482 (GRCm39)	missense	probably benign	0.02
R5362:C2cd5	UTSW	6	143,028,969 (GRCm39)	missense	probably damaging	1.00
R5604:C2cd5	UTSW	6	142,957,747 (GRCm39)	missense	probably benign	0.44
R6139:C2cd5	UTSW	6	142,980,784 (GRCm39)	missense	probably damaging	0.97
R6165:C2cd5	UTSW	6	142,995,954 (GRCm39)	missense	possibly damaging	0.58
R6567:C2cd5	UTSW	6	142,976,974 (GRCm39)	missense	possibly damaging	0.86
R6600:C2cd5	UTSW	6	143,025,702 (GRCm39)	missense	probably damaging	0.99
R6821:C2cd5	UTSW	6	142,963,712 (GRCm39)	missense	probably damaging	1.00
R6838:C2cd5	UTSW	6	142,975,364 (GRCm39)	missense	possibly damaging	0.68
R7153:C2cd5	UTSW	6	142,965,135 (GRCm39)	missense	probably benign	0.04
R7689:C2cd5	UTSW	6	142,995,951 (GRCm39)	nonsense	probably null
R8027:C2cd5	UTSW	6	143,024,046 (GRCm39)	missense	possibly damaging	0.95
R8461:C2cd5	UTSW	6	142,980,802 (GRCm39)	missense	probably damaging	1.00
R8852:C2cd5	UTSW	6	143,028,946 (GRCm39)	missense	probably benign	0.33
R8860:C2cd5	UTSW	6	143,028,946 (GRCm39)	missense	probably benign	0.33
R8863:C2cd5	UTSW	6	142,987,088 (GRCm39)	missense	possibly damaging	0.95
R9238:C2cd5	UTSW	6	143,027,127 (GRCm39)	missense	possibly damaging	0.76
R9320:C2cd5	UTSW	6	142,977,019 (GRCm39)	nonsense	probably null
R9758:C2cd5	UTSW	6	142,984,613 (GRCm39)	missense	probably benign	0.03
X0013:C2cd5	UTSW	6	143,012,808 (GRCm39)	missense	probably damaging	0.99
Z1177:C2cd5	UTSW	6	142,974,932 (GRCm39)	missense	probably null	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to A transition at position 1765 of the 5730419I09Rik transcript, in exon 16 of 21 total exons (ENSMUST00000070301). Multiple transcripts are annotated in the Ensembl database. The mutation causes a valine to isoleucine change at amino acid 589 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (see trace file).

Protein Function and Prediction

Three transcripts of 5730419I09Rik encode protein isoforms of 1016, 990, and 818 amino acids (Uniprot Q7TPS5). A C2 domain exists in the two longest isoforms. The shortest isoform contains no domains recognized by SMART.

The mutation is predicted to be benign by the PolyPhen-2 program.

Posted On

2010-11-24