Mutagenetix > Incidental Mutation

Incidental Mutation 'R4654:C2cd5'

351538

Institutional Source

Beutler Lab

Gene Symbol

C2cd5

Ensembl Gene

ENSMUSG00000030279

Gene Name

C2 calcium-dependent domain containing 5

Synonyms

5730419I09Rik, CDP138, C030008B15Rik

MMRRC Submission

041914-MU

Accession Numbers

Essential gene?

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

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142956646-143045867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142975910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 768 (T768A)

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 benign
Transcript: ENSMUST00000087485
AA Change: T757A

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

SMART Domains

Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: T757A

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: T757A

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

SMART Domains

Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: T757A

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: T766A

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

SMART Domains

Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: T766A

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: T766A

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

SMART Domains

Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: T766A

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: T768A

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

SMART Domains

Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: T768A

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: T766A

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

SMART Domains

Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: T766A

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (98/101)

Allele List at MGI

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

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 25,193,819 (GRCm39)	C398S	probably damaging	Het
Adamts10	A	G	17: 33,756,304 (GRCm39)	K316E	possibly damaging	Het
Ap1m1	T	C	8: 73,006,717 (GRCm39)	F238L	possibly damaging	Het
Aph1a	T	A	3: 95,803,088 (GRCm39)	D180E	probably benign	Het
Atp9b	A	G	18: 80,935,093 (GRCm39)	F201L	probably benign	Het
Btbd9	A	C	17: 30,704,561 (GRCm39)		probably benign	Het
Casq1	C	T	1: 172,037,965 (GRCm39)		probably benign	Het
Cimap2	C	A	4: 106,467,612 (GRCm39)	M341I	probably benign	Het
Cltc	A	T	11: 86,617,196 (GRCm39)	M351K	probably benign	Het
Cnp	A	G	11: 100,469,877 (GRCm39)	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,845,544 (GRCm39)	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279 (GRCm39)	S117P	probably benign	Het
Cyp2b13	T	C	7: 25,761,072 (GRCm39)	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dclk2	T	C	3: 86,743,683 (GRCm39)	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,458,742 (GRCm39)	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dennd5b	T	C	6: 148,908,335 (GRCm39)	N986S	probably damaging	Het
Dipk1a	T	C	5: 108,057,982 (GRCm39)		probably null	Het
Dusp9	G	A	X: 72,684,378 (GRCm39)	R182Q	probably benign	Het
Ecpas	A	T	4: 58,834,523 (GRCm39)	I785N	possibly damaging	Het
Edil3	A	G	13: 89,437,589 (GRCm39)	K397E	probably damaging	Het
Ehd1	T	C	19: 6,326,994 (GRCm39)		probably benign	Het
Fam13a	A	T	6: 58,964,152 (GRCm39)	H93Q	probably benign	Het
Farp1	T	C	14: 121,513,716 (GRCm39)	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,922,771 (GRCm39)	I216F	probably damaging	Het
Gadl1	G	A	9: 115,770,408 (GRCm39)	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,618,436 (GRCm39)	V122A	probably damaging	Het
Hdac10	C	T	15: 89,011,036 (GRCm39)		probably benign	Het
Heatr5b	T	C	17: 79,128,130 (GRCm39)	S502G	possibly damaging	Het
Hr	C	A	14: 70,801,013 (GRCm39)	A695E	probably damaging	Het
Ift80	A	T	3: 68,825,870 (GRCm39)	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,970,692 (GRCm39)		probably benign	Het
Iqch	T	G	9: 63,432,195 (GRCm39)	Y400S	probably damaging	Het
Jag2	C	T	12: 112,877,266 (GRCm39)	D702N	probably benign	Het
Kiss1r	T	A	10: 79,757,624 (GRCm39)	L326Q	probably damaging	Het
Lrrc42	A	T	4: 107,104,746 (GRCm39)	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,026,880 (GRCm39)	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,649,884 (GRCm39)	S1674P	probably damaging	Het
Mctp2	A	G	7: 71,739,942 (GRCm39)	L816P	probably damaging	Het
Mipol1	A	T	12: 57,352,918 (GRCm39)	T86S	probably benign	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849 (GRCm39)	V302A	probably benign	Het
Msc	A	T	1: 14,826,053 (GRCm39)		probably null	Het
Msmo1	C	A	8: 65,180,888 (GRCm39)	V9L	probably benign	Het
Nbeal2	G	A	9: 110,461,072 (GRCm39)	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,187,850 (GRCm39)	V12I	possibly damaging	Het
Npas3	T	C	12: 54,108,915 (GRCm39)		probably null	Het
Nr2e3	A	G	9: 59,856,355 (GRCm39)		probably benign	Het
Oca2	C	T	7: 55,978,560 (GRCm39)	A576V	probably benign	Het
Or5b21	T	A	19: 12,839,596 (GRCm39)	C152*	probably null	Het
Or6d12	T	C	6: 116,493,409 (GRCm39)	Y224H	probably damaging	Het
Or6z7	T	C	7: 6,484,045 (GRCm39)	T37A	probably benign	Het
Parp6	A	G	9: 59,548,383 (GRCm39)		probably null	Het
Pate13	T	A	9: 35,820,287 (GRCm39)	C4S	probably damaging	Het
Phlpp1	A	T	1: 106,267,231 (GRCm39)	M715L	probably benign	Het
Pi4k2a	G	A	19: 42,101,544 (GRCm39)		probably null	Het
Pik3ap1	A	G	19: 41,316,348 (GRCm39)	S305P	probably damaging	Het
Plcg2	G	A	8: 118,231,054 (GRCm39)	M45I	probably benign	Het
Ppm1m	A	T	9: 106,073,601 (GRCm39)	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,866,227 (GRCm39)	M341R	probably benign	Het
Prdx3	A	G	19: 60,853,674 (GRCm39)	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,400,496 (GRCm39)	V773A	possibly damaging	Het
Raly	T	C	2: 154,699,376 (GRCm39)	V60A	probably damaging	Het
Reps1	A	G	10: 17,990,148 (GRCm39)	D420G	probably damaging	Het
Rev1	A	T	1: 38,118,337 (GRCm39)		probably benign	Het
Rgs2	T	G	1: 143,878,650 (GRCm39)		probably benign	Het
Rlf	G	T	4: 121,007,798 (GRCm39)	T394K	probably benign	Het
Rptn	A	T	3: 93,304,792 (GRCm39)	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,414,494 (GRCm39)	M402K	probably benign	Het
Skic2	A	G	17: 35,068,922 (GRCm39)	C26R	probably damaging	Het
Slx9	T	C	10: 77,325,860 (GRCm39)	M170V	possibly damaging	Het
Smpd4	A	G	16: 17,459,992 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,063,813 (GRCm39)	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,684,326 (GRCm39)	F64I	probably benign	Het
Tex21	A	C	12: 76,263,860 (GRCm39)	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954 (GRCm39)	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,611,797 (GRCm39)	V145A	probably benign	Het
Ttn	C	T	2: 76,616,936 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,269,670 (GRCm39)	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,634,083 (GRCm39)	S175P	probably damaging	Het
Vcl	A	G	14: 21,035,820 (GRCm39)		probably null	Het
Vegfa	A	T	17: 46,336,176 (GRCm39)		probably benign	Het
Vmn2r68	G	A	7: 84,882,769 (GRCm39)	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,626,864 (GRCm39)	Y142H	probably benign	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Ybx3	G	T	6: 131,347,290 (GRCm39)	R282S	probably damaging	Het
Zfp566	T	C	7: 29,777,194 (GRCm39)	H329R	probably damaging	Het
Zfp786	T	C	6: 47,797,868 (GRCm39)	I357V	probably benign	Het
Zfr2	C	A	10: 81,087,083 (GRCm39)		probably null	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
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
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'- ACAGCCTGATGCAAGCTAAG -3'
(R):5'- AAACCTTGCTGTCACCCAG -3'

Sequencing Primer
(F):5'- TGATGCAAGCTAAGACATACCTTCAG -3'
(R):5'- ACCCAGTTGCTGACACTG -3'

Posted On

2015-10-08