Mutagenetix > Incidental Mutation

Incidental Mutation 'R0740:C2cd5'

70656

Institutional Source

Beutler Lab

Gene Symbol

C2cd5

Ensembl Gene

ENSMUSG00000030279

Gene Name

C2 calcium-dependent domain containing 5

Synonyms

5730419I09Rik, CDP138, C030008B15Rik

MMRRC Submission

038921-MU

Accession Numbers

Essential gene?

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

Stock #

R0740 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142956646-143045867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142981989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 625 (N625I)

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 damaging
Transcript: ENSMUST00000087485
AA Change: N616I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: N616I

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 damaging
Transcript: ENSMUST00000111758
AA Change: N616I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: N616I

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 damaging
Transcript: ENSMUST00000171349
AA Change: N625I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: N625I

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 damaging
Transcript: ENSMUST00000203187
AA Change: N625I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: N625I

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 damaging
Transcript: ENSMUST00000203673
AA Change: N627I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: N627I

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 damaging
Transcript: ENSMUST00000204655
AA Change: N625I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: N625I

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 94.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc3	G	T	11: 101,223,158 (GRCm39)	V465L	probably benign	Het
Ccdc60	T	A	5: 116,328,135 (GRCm39)	R110W	probably damaging	Het
Cfap43	A	G	19: 47,824,243 (GRCm39)	F43L	possibly damaging	Het
Crabp2	A	G	3: 87,859,443 (GRCm39)	K31R	probably benign	Het
Get1	G	C	16: 95,946,798 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Nlrp3	T	C	11: 59,439,082 (GRCm39)	F220L	probably benign	Het
Pik3c2g	T	C	6: 139,610,791 (GRCm39)		probably null	Het
Rragc	A	G	4: 123,818,556 (GRCm39)	K257R	probably damaging	Het
Scml4	T	C	10: 42,806,559 (GRCm39)	F149S	probably damaging	Het
Tdrd1	A	G	19: 56,827,531 (GRCm39)	K178R	probably damaging	Het
Trappc11	A	T	8: 47,977,623 (GRCm39)	V224D	probably damaging	Het
Zfp964	G	T	8: 70,115,828 (GRCm39)	D143Y	probably damaging	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
D605:C2cd5	UTSW	6	142,975,386 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAAGACCTGAAAGGAGACCTGCCC -3'
(R):5'- AGCTGTCACCATCTACTCAGGAGTC -3'

Sequencing Primer
(F):5'- TGTATACTGGAAGagaggaggc -3'
(R):5'- AGGAGTCTCCCTGAGTACATC -3'

Posted On

2013-09-30