Mutagenetix > Incidental Mutation

Incidental Mutation 'R7153:C2cd5'

554254

Institutional Source

Beutler Lab

Gene Symbol

C2cd5

Ensembl Gene

ENSMUSG00000030279

Gene Name

C2 calcium-dependent domain containing 5

Synonyms

5730419I09Rik, CDP138, C030008B15Rik

MMRRC Submission

045255-MU

Accession Numbers

Essential gene?

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

Stock #

R7153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142956646-143045867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142965135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 871 (S871P)

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

SMART Domains

Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279

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

SMART Domains

Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279

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

SMART Domains

Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279

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

SMART Domains

Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279

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: S871P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: S871P

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

SMART Domains

Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279

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

0.2930

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

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

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,969,906 (GRCm39)	T741A	possibly damaging	Het
Aox4	T	C	1: 58,289,378 (GRCm39)	M767T	probably damaging	Het
Arhgap39	C	A	15: 76,649,691 (GRCm39)	S27I	probably benign	Het
AU018091	T	A	7: 3,209,353 (GRCm39)	M296L	probably benign	Het
Axin1	A	G	17: 26,406,942 (GRCm39)	T512A	probably benign	Het
B4galnt3	A	T	6: 120,191,929 (GRCm39)	D602E	probably benign	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bsnd	A	T	4: 106,349,230 (GRCm39)	D3E	probably benign	Het
Btbd18	C	T	2: 84,496,772 (GRCm39)	R137*	probably null	Het
Cobl	G	T	11: 12,204,128 (GRCm39)	P858Q	probably damaging	Het
Col6a1	C	T	10: 76,546,175 (GRCm39)		probably null	Het
Crb2	A	T	2: 37,677,420 (GRCm39)	H304L	probably benign	Het
Crybg1	T	A	10: 43,840,662 (GRCm39)	Y1812F	possibly damaging	Het
Ddx60	A	T	8: 62,441,142 (GRCm39)	K1070N	possibly damaging	Het
Defb22	T	C	2: 152,327,840 (GRCm39)	K115R	unknown	Het
Dhx8	C	T	11: 101,631,001 (GRCm39)		probably null	Het
Dnah5	T	A	15: 28,365,668 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,165,964 (GRCm39)	F543Y	probably benign	Het
Ehhadh	A	G	16: 21,585,071 (GRCm39)	F270S	probably damaging	Het
Esyt2	A	G	12: 116,310,128 (GRCm39)	M397V	probably benign	Het
Fanca	A	T	8: 124,043,164 (GRCm39)	L74H	probably damaging	Het
Fbxl17	C	A	17: 63,367,346 (GRCm39)	V676F	probably benign	Het
Fndc1	A	G	17: 8,020,477 (GRCm39)	V102A	probably damaging	Het
Gpalpp1	T	C	14: 76,332,451 (GRCm39)	Y273C	probably damaging	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,411,463 (GRCm39)	H225R	probably benign	Het
Helz2	A	T	2: 180,873,078 (GRCm39)	S2411T	probably benign	Het
Hnmt	C	T	2: 23,904,353 (GRCm39)	A103T	probably damaging	Het
Ighv15-2	G	T	12: 114,528,210 (GRCm39)	Y114*	probably null	Het
Irak2	A	G	6: 113,655,670 (GRCm39)	H357R	probably benign	Het
Kcp	T	C	6: 29,499,014 (GRCm39)	E320G	probably damaging	Het
Kpna4	A	G	3: 68,997,131 (GRCm39)	L352S	probably damaging	Het
Krt36	G	A	11: 99,995,972 (GRCm39)	Q151*	probably null	Het
Krt77	G	A	15: 101,773,931 (GRCm39)	T241M	probably benign	Het
Lca5l	T	A	16: 95,975,009 (GRCm39)	N305I	probably damaging	Het
Lefty1	T	A	1: 180,765,332 (GRCm39)	L300Q	probably benign	Het
Mertk	A	G	2: 128,578,569 (GRCm39)	Y185C	probably damaging	Het
Mmp14	T	C	14: 54,673,708 (GRCm39)	I124T	possibly damaging	Het
Nlrc4	T	C	17: 74,754,098 (GRCm39)	E95G	possibly damaging	Het
Npc1	A	G	18: 12,346,348 (GRCm39)	F283L	possibly damaging	Het
Or4k38	A	T	2: 111,166,246 (GRCm39)	M59K	probably damaging	Het
Or4p19	A	C	2: 88,242,462 (GRCm39)	L180W	probably damaging	Het
Pcdha11	T	C	18: 37,144,278 (GRCm39)	V123A	probably damaging	Het
Pcdhga2	T	C	18: 37,802,261 (GRCm39)	V35A	probably damaging	Het
Pgd	G	T	4: 149,246,135 (GRCm39)	T94K	probably benign	Het
Pik3c2a	T	C	7: 115,941,487 (GRCm39)	N1593S	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,935,452 (GRCm39)		probably null	Het
Prkd3	C	T	17: 79,273,784 (GRCm39)	D491N	probably benign	Het
Ptprf	T	C	4: 118,088,740 (GRCm39)	T688A	probably damaging	Het
Pycr2	T	A	1: 180,734,247 (GRCm39)	L210M	probably damaging	Het
Rpl36	T	C	17: 56,921,137 (GRCm39)	I81T	probably benign	Het
Rraga	C	T	4: 86,494,253 (GRCm39)	A33V	probably damaging	Het
Slc29a1	G	A	17: 45,896,688 (GRCm39)	A429V	probably damaging	Het
Stab1	T	G	14: 30,882,541 (GRCm39)	E432A	probably benign	Het
Synj1	C	T	16: 90,744,978 (GRCm39)	G1189R	probably benign	Het
Synpo2	A	G	3: 122,906,053 (GRCm39)	*1088Q	probably null	Het
Tbc1d21	T	C	9: 58,270,376 (GRCm39)	D133G	probably damaging	Het
Tenm2	A	G	11: 35,915,009 (GRCm39)	V2176A	probably damaging	Het
Tff1	A	G	17: 31,381,772 (GRCm39)	I35T	probably benign	Het
Thnsl1	T	C	2: 21,217,764 (GRCm39)	V506A	possibly damaging	Het
Timm10b	A	G	7: 105,290,087 (GRCm39)	Q50R	unknown	Het
Tjp2	A	T	19: 24,079,345 (GRCm39)	N843K	probably benign	Het
Tle1	A	T	4: 72,057,298 (GRCm39)	F101I	probably benign	Het
Tmem225	T	C	9: 40,059,664 (GRCm39)	F15L	probably benign	Het
Trav12-3	T	C	14: 53,859,618 (GRCm39)	L88P	probably benign	Het
Ttc7b	A	T	12: 100,321,293 (GRCm39)	W613R	probably damaging	Het
Ttn	T	A	2: 76,608,848 (GRCm39)	M17723L	probably benign	Het
Ttn	T	C	2: 76,775,660 (GRCm39)	D1840G	unknown	Het
Tubgcp2	T	C	7: 139,580,949 (GRCm39)	H668R	probably benign	Het
Ush2a	C	A	1: 188,460,681 (GRCm39)	N2647K	possibly damaging	Het
Vmn1r14	C	T	6: 57,210,851 (GRCm39)	S143F	probably benign	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Ywhab	T	C	2: 163,855,980 (GRCm39)	F119L	probably damaging	Het
Zmym2	T	A	14: 57,187,659 (GRCm39)	D1108E	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
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
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
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'- GCAGTGTCGTTACTAGGCAG -3'
(R):5'- TACTTGTCCCAGACTCCGTG -3'

Sequencing Primer
(F):5'- CGTTACTAGGCAGTAAGGTCTAGCC -3'
(R):5'- CCTTACTGGGTTTGGACACTTG -3'

Posted On

2019-05-15