Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:C2cd5'

384516

Institutional Source

Beutler Lab

Gene Symbol

C2cd5

Ensembl Gene

ENSMUSG00000030279

Gene Name

C2 calcium-dependent domain containing 5

Synonyms

5730419I09Rik, C030008B15Rik, CDP138

MMRRC Submission

042567-MU

Accession Numbers

Genbank: NM_001109688; NM_029081; NM_029897

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

R4972 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

143010920-143100141 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143013224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1003 (M1003K)

Ref Sequence

ENSEMBL: ENSMUSP00000145425 (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: M941K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: M941K

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: M941K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: M941K

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: M950K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: M950K

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: M967K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: M967K

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: ENSMUST00000203673
AA Change: M1003K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: M1003K

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 damaging
Transcript: ENSMUST00000204655
AA Change: M950K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: M950K

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

0.3156

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

Allele List at MGI

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

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,404	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,833,773		noncoding transcript	Het
Actl11	A	G	9: 107,929,956	T493A	probably benign	Het
Actn1	T	C	12: 80,173,039	D686G	probably benign	Het
Adamts1	G	A	16: 85,795,945	T525I	probably damaging	Het
Adcy10	T	A	1: 165,556,862	L1064H	probably damaging	Het
AI661453	A	T	17: 47,466,399		probably benign	Het
Apba1	T	A	19: 23,912,536	S433T	probably benign	Het
Arid4b	T	A	13: 14,160,272	N355K	probably benign	Het
Bsn	A	T	9: 108,115,178	M1125K	probably damaging	Het
Ccdc18	A	G	5: 108,192,003	M805V	probably benign	Het
Cep89	T	G	7: 35,432,552	L637R	probably damaging	Het
Col24a1	A	T	3: 145,509,684	I1444F	probably benign	Het
Commd4	A	T	9: 57,155,448	S175T	probably benign	Het
Coq7	A	G	7: 118,510,117	V236A	unknown	Het
Dctn2	C	T	10: 127,276,703	R176C	probably damaging	Het
Ddx31	T	C	2: 28,860,770	F389L	probably damaging	Het
Dgkz	C	T	2: 91,945,702	R72H	probably benign	Het
Dpysl4	A	G	7: 139,090,290	D24G	probably damaging	Het
Dydc1	A	G	14: 41,082,338	T106A	probably benign	Het
F13b	A	G	1: 139,510,923	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,454,650	M407V	probably benign	Het
Fzd5	C	A	1: 64,736,012	V197L	probably benign	Het
Galnt16	G	T	12: 80,572,329	E70*	probably null	Het
Gm8979	T	C	7: 106,083,314		noncoding transcript	Het
Gpr171	A	T	3: 59,097,965	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484	N763D	probably damaging	Het
Gsta2	A	T	9: 78,337,679	M51K	probably damaging	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Il18r1	C	T	1: 40,491,064	P317L	probably benign	Het
Iscu	T	A	5: 113,776,976		probably benign	Het
Kif6	A	G	17: 49,707,619	D250G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,680,067	C82S	probably damaging	Het
Mob4	C	G	1: 55,151,002	L135V	possibly damaging	Het
Mpzl3	T	A	9: 45,062,256		probably benign	Het
Mvp	T	C	7: 126,989,798	D599G	probably damaging	Het
Myo1a	T	C	10: 127,716,309	Y766H	probably benign	Het
Myo5b	A	G	18: 74,627,193	H260R	probably damaging	Het
Nbea	C	T	3: 56,085,246	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216	D211V	probably damaging	Het
Nefl	G	T	14: 68,086,763		probably benign	Het
Nfx1	T	A	4: 40,976,375	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,570,539	C797F	probably damaging	Het
Olfr1280	T	A	2: 111,315,818	V113E	probably damaging	Het
Olfr467	A	G	7: 107,814,746	Q56R	probably benign	Het
Pde6b	A	G	5: 108,425,264	D500G	probably benign	Het
Pgs1	T	C	11: 118,005,893		probably null	Het
Polr3b	T	A	10: 84,638,124	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,220,108	S300T	probably benign	Het
Prl2c2	A	C	13: 13,002,170	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,899,345		probably benign	Het
Prph2	G	T	17: 46,910,807	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,171,275	T74M	probably damaging	Het
Rexo1	A	T	10: 80,549,693	F510L	probably damaging	Het
Rexo2	G	T	9: 48,479,389	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,152,416	K147R	possibly damaging	Het
Skint6	A	G	4: 112,835,068	I1062T	probably benign	Het
Spag16	C	T	1: 70,724,928	R636W	probably damaging	Het
Spata16	T	C	3: 26,840,723	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,374,425	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,423,542	S7G	probably benign	Het
Tex9	A	G	9: 72,478,338		probably null	Het
Thsd7b	C	A	1: 130,188,572	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,669,668	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,296,993	D303A	probably damaging	Het
Trpm7	A	G	2: 126,824,058	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,944,961	E245K	probably benign	Het
Vezt	C	T	10: 94,000,350		probably null	Het
Zscan20	G	A	4: 128,592,359	P183S	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
R0497:C2cd5	UTSW	6	143012093	missense	probably benign	0.00
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
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
R8027:C2cd5	UTSW	6	143078320	missense	possibly damaging	0.95
R8461:C2cd5	UTSW	6	143035076	missense	probably damaging	1.00
R8852:C2cd5	UTSW	6	143083220	missense	probably benign	0.33
R8860:C2cd5	UTSW	6	143083220	missense	probably benign	0.33
R8863:C2cd5	UTSW	6	143041362	missense	possibly damaging	0.95
R9238:C2cd5	UTSW	6	143081401	missense	possibly damaging	0.76
R9320:C2cd5	UTSW	6	143031293	nonsense	probably null
R9758:C2cd5	UTSW	6	143038887	missense	probably benign	0.03
X0013:C2cd5	UTSW	6	143067082	missense	probably damaging	0.99
Z1177:C2cd5	UTSW	6	143029206	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATGTGAGGTGTAACAGCAC -3'
(R):5'- TTAAGGTAACCTGGAATGTGCAC -3'

Sequencing Primer
(F):5'- GTGTAACAGCACCTGAGTGG -3'
(R):5'- AACCTGGAATGTGCACTGTGTC -3'

Posted On

2016-04-27