Mutagenetix > Incidental Mutation

Incidental Mutation 'R6973:C2cd4d'

543700

Institutional Source

Beutler Lab

Gene Symbol

C2cd4d

Ensembl Gene

ENSMUSG00000091648

Gene Name

C2 calcium-dependent domain containing 4D

Synonyms

Gm659, LOC271944

MMRRC Submission

045083-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R6973 (G1)

Quality Score

117.008

Status

Validated

Chromosome

Chromosomal Location

94269745-94271873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94271130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 132 (R132L)

Ref Sequence

ENSEMBL: ENSMUSP00000128182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169433]

AlphaFold

P0CG09

Predicted Effect

probably damaging
Transcript: ENSMUST00000169433
AA Change: R132L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128182
Gene: ENSMUSG00000091648
AA Change: R132L

Domain	Start	End	E-Value	Type
Blast:C2	37	81	3e-6	BLAST
low complexity region	109	120	N/A	INTRINSIC
low complexity region	136	149	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
C2	221	329	1.01e-11	SMART

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,760 (GRCm39)	Y236C	probably benign	Het
Adamts12	T	A	15: 11,331,866 (GRCm39)	C1461*	probably null	Het
Akap9	A	G	5: 4,096,699 (GRCm39)	N2525D	possibly damaging	Het
Atp6v1c1	A	G	15: 38,690,794 (GRCm39)	N315S	probably damaging	Het
B3gnt7	G	A	1: 86,233,109 (GRCm39)	M1I	probably null	Het
Cd244a	A	G	1: 171,401,775 (GRCm39)	Y167C	probably damaging	Het
Chd4	A	G	6: 125,099,825 (GRCm39)	N1666D	possibly damaging	Het
Cubn	A	G	2: 13,386,648 (GRCm39)	I1539T	possibly damaging	Het
Dcdc2a	A	T	13: 25,304,372 (GRCm39)		probably benign	Het
Dgka	C	T	10: 128,565,463 (GRCm39)		probably null	Het
Ephb4	T	G	5: 137,368,066 (GRCm39)	V737G	probably damaging	Het
Etv2	T	C	7: 30,334,167 (GRCm39)	N189D	probably benign	Het
Exoc4	G	T	6: 33,556,965 (GRCm39)	C490F	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gpbp1l1	A	G	4: 116,438,479 (GRCm39)	M192V	possibly damaging	Het
Ireb2	A	G	9: 54,789,671 (GRCm39)	K115R	probably benign	Het
Mybpc1	T	C	10: 88,396,223 (GRCm39)	E208G	possibly damaging	Het
Nfic	C	A	10: 81,256,191 (GRCm39)	A158S	probably benign	Het
Nos3	A	T	5: 24,585,241 (GRCm39)	I798L	probably benign	Het
Ntrk1	A	T	3: 87,691,288 (GRCm39)	L292Q	probably damaging	Het
Or52h7	G	A	7: 104,214,183 (GRCm39)	V252I	probably benign	Het
Or8u3-ps	C	T	2: 85,953,198 (GRCm39)	T310I	probably benign	Het
Pcdhb2	G	C	18: 37,429,416 (GRCm39)	R463P	probably benign	Het
Pcdhgb6	A	T	18: 37,875,526 (GRCm39)	D78V	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Prelid3b	C	A	2: 174,311,155 (GRCm39)	W59L	probably benign	Het
Prex2	T	G	1: 11,182,967 (GRCm39)	S405R	probably damaging	Het
Rp1	G	A	1: 4,422,217 (GRCm39)	Q248*	probably null	Het
Rspo4	T	A	2: 151,709,735 (GRCm39)	C47S	probably damaging	Het
Ryr3	C	A	2: 112,596,656 (GRCm39)	M2499I	probably damaging	Het
Smarca5	A	G	8: 81,431,380 (GRCm39)	Y946H	probably damaging	Het
Spata31d1e	A	G	13: 59,890,521 (GRCm39)	I433T	probably benign	Het
Tcn2	T	C	11: 3,867,649 (GRCm39)	*431W	probably null	Het
Tert	A	G	13: 73,776,107 (GRCm39)	E286G	probably benign	Het
Tnni3	A	G	7: 4,521,416 (GRCm39)	I196T	possibly damaging	Het
Unc79	T	C	12: 102,964,699 (GRCm39)	I49T	possibly damaging	Het
Zfp687	A	G	3: 94,916,688 (GRCm39)	S813P	possibly damaging	Het
Znfx1	T	A	2: 166,898,681 (GRCm39)	H81L	probably benign	Het

Other mutations in C2cd4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:C2cd4d	APN	3	94,271,770 (GRCm39)	utr 3 prime	probably benign
R2090:C2cd4d	UTSW	3	94,271,321 (GRCm39)	missense	probably benign	0.10
R2122:C2cd4d	UTSW	3	94,270,925 (GRCm39)	nonsense	probably null
R4072:C2cd4d	UTSW	3	94,271,185 (GRCm39)	nonsense	probably null
R4454:C2cd4d	UTSW	3	94,271,054 (GRCm39)	missense	probably damaging	1.00
R6077:C2cd4d	UTSW	3	94,271,615 (GRCm39)	missense	probably damaging	1.00
R6190:C2cd4d	UTSW	3	94,271,226 (GRCm39)	missense	probably benign	0.00
R6312:C2cd4d	UTSW	3	94,271,742 (GRCm39)	missense	probably damaging	0.99
R7007:C2cd4d	UTSW	3	94,271,378 (GRCm39)	missense	probably benign	0.45
R7057:C2cd4d	UTSW	3	94,270,800 (GRCm39)	missense	probably benign	0.00
R7278:C2cd4d	UTSW	3	94,271,445 (GRCm39)	missense	probably benign	0.00
R7430:C2cd4d	UTSW	3	94,271,657 (GRCm39)	missense	possibly damaging	0.94
R7912:C2cd4d	UTSW	3	94,270,860 (GRCm39)	missense	probably damaging	0.98
R8363:C2cd4d	UTSW	3	94,271,157 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GCTGCAACCCTAATGTCCTCAC -3'
(R):5'- ATAGGGTTGCAGCTGCTCTG -3'

Sequencing Primer
(F):5'- GCATCCCACAGTTCTTCATACCG -3'
(R):5'- AGCACGCTGTCCTTGGTC -3'

Posted On

2019-05-13