Mutagenetix > Incidental Mutation

Incidental Mutation 'R0541:C2cd2'

261908

Institutional Source

Beutler Lab

Gene Symbol

C2cd2

Ensembl Gene

ENSMUSG00000045975

Gene Name

C2 calcium-dependent domain containing 2

Synonyms

5830404H04Rik, ORF25

MMRRC Submission

038733-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0541 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

97656409-97727248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97723496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 7 (E7G)

Ref Sequence

ENSEMBL: ENSMUSP00000127368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170757] [ENSMUST00000232165]

AlphaFold

E9Q3C1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170757
AA Change: E7G

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: E7G

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	106	122	N/A	INTRINSIC
Pfam:C2	232	359	1.9e-6	PFAM
low complexity region	410	421	N/A	INTRINSIC
low complexity region	491	517	N/A	INTRINSIC
low complexity region	605	616	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231953

Predicted Effect

probably benign
Transcript: ENSMUST00000232165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232572

Meta Mutation Damage Score

0.1092

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (64/67)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,872 (GRCm39)	M115V	probably benign	Het
4933415A04Rik	TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,227 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,843,185 (GRCm39)	A1220V	probably benign	Het
Adamts19	G	A	18: 59,060,372 (GRCm39)		probably null	Het
Agbl1	G	A	7: 76,058,993 (GRCm39)	V194M	probably benign	Het
Arhgap20	G	T	9: 51,760,963 (GRCm39)	S902I	probably damaging	Het
Atp11b	T	G	3: 35,861,093 (GRCm39)	D193E	probably damaging	Het
B3gntl1	A	T	11: 121,535,430 (GRCm39)		probably benign	Het
Camta2	A	G	11: 70,572,447 (GRCm39)	L259P	probably benign	Het
Ccni	T	C	5: 93,335,563 (GRCm39)	N192D	probably benign	Het
Cgnl1	A	G	9: 71,558,535 (GRCm39)	I946T	possibly damaging	Het
Chil3	T	C	3: 106,068,548 (GRCm39)		probably null	Het
Cntn5	A	G	9: 9,673,407 (GRCm39)		probably benign	Het
Cpn2	C	T	16: 30,078,169 (GRCm39)	G511S	possibly damaging	Het
Dagla	C	A	19: 10,232,170 (GRCm39)		probably null	Het
Dcc	T	C	18: 71,392,086 (GRCm39)	N1440S	probably damaging	Het
Drosha	T	A	15: 12,907,474 (GRCm39)	N1069K	probably benign	Het
Edc4	A	G	8: 106,616,060 (GRCm39)	T812A	probably benign	Het
Eml4	A	G	17: 83,747,471 (GRCm39)	I238V	probably benign	Het
Ep400	T	C	5: 110,852,882 (GRCm39)	T1288A	unknown	Het
Fastkd1	A	C	2: 69,532,750 (GRCm39)	L539R	probably damaging	Het
Fbln7	G	A	2: 128,719,454 (GRCm39)		probably benign	Het
Fbxo39	A	G	11: 72,209,297 (GRCm39)	I386V	probably benign	Het
Gm17430	T	C	18: 9,726,267 (GRCm39)	K135R	probably damaging	Het
Gm3646	T	A	1: 39,843,483 (GRCm39)	T8S	unknown	Het
Gtsf1	A	T	15: 103,329,619 (GRCm39)	V100E	possibly damaging	Het
Helz2	A	G	2: 180,876,618 (GRCm39)	F1292S	possibly damaging	Het
Igf2bp3	G	A	6: 49,084,401 (GRCm39)		probably benign	Het
Ip6k2	T	G	9: 108,681,826 (GRCm39)	D252E	probably damaging	Het
Iqck	T	A	7: 118,514,817 (GRCm39)	L232Q	probably damaging	Het
Kif18b	A	G	11: 102,806,001 (GRCm39)	V186A	probably damaging	Het
Klhl6	T	A	16: 19,768,197 (GRCm39)		probably null	Het
Lao1	C	T	4: 118,820,999 (GRCm39)	T75I	probably benign	Het
Lyst	T	C	13: 13,855,878 (GRCm39)	F2400L	probably benign	Het
Map3k9	A	T	12: 81,780,997 (GRCm39)	S388T	possibly damaging	Het
Mmp11	G	T	10: 75,762,767 (GRCm39)	H229N	probably damaging	Het
Myh7	T	G	14: 55,212,158 (GRCm39)	I1529L	probably benign	Het
Nckap5	G	T	1: 126,623,459 (GRCm39)	D11E	possibly damaging	Het
Ncoa1	A	T	12: 4,373,033 (GRCm39)	F123I	probably damaging	Het
Nelfb	A	T	2: 25,093,992 (GRCm39)	D385E	probably benign	Het
Obscn	C	T	11: 58,972,810 (GRCm39)	V2288M	probably damaging	Het
Or2f1b	A	G	6: 42,739,154 (GRCm39)	H56R	probably damaging	Het
Or4d6	C	T	19: 12,086,884 (GRCm39)	V9M	possibly damaging	Het
Or52x1	A	T	7: 104,853,367 (GRCm39)	M61K	probably damaging	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Otog	T	A	7: 45,918,673 (GRCm39)		probably benign	Het
Oxa1l	A	G	14: 54,605,646 (GRCm39)	E375G	possibly damaging	Het
Pan2	T	A	10: 128,144,091 (GRCm39)	I129K	possibly damaging	Het
Parp1	A	G	1: 180,426,616 (GRCm39)	I919M	probably benign	Het
Pnpla7	T	C	2: 24,885,305 (GRCm39)	Y174H	probably damaging	Het
Polr3b	T	C	10: 84,473,928 (GRCm39)	F169S	probably damaging	Het
Rab10	T	C	12: 3,314,743 (GRCm39)	D45G	probably damaging	Het
Reln	A	G	5: 22,185,107 (GRCm39)	S1537P	possibly damaging	Het
Sema6d	T	A	2: 124,507,197 (GRCm39)	S1045T	probably benign	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Spidr	T	A	16: 15,733,229 (GRCm39)	I589F	probably damaging	Het
Stmn4	A	C	14: 66,595,388 (GRCm39)	I165L	probably benign	Het
Stx5a	T	C	19: 8,727,301 (GRCm39)	M177T	probably damaging	Het
Tll1	T	C	8: 64,491,486 (GRCm39)		probably null	Het
Tmem192	T	C	8: 65,416,912 (GRCm39)	Y168H	probably damaging	Het
Ttc21a	C	T	9: 119,785,892 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,446,663 (GRCm39)		probably benign	Het
Vezf1	A	G	11: 87,972,403 (GRCm39)	M255V	possibly damaging	Het
Vmn2r25	A	G	6: 123,816,786 (GRCm39)	F265S	probably damaging	Het
Vps13a	A	G	19: 16,681,941 (GRCm39)	S1021P	probably benign	Het
Wfdc16	T	C	2: 164,477,773 (GRCm39)	E92G	possibly damaging	Het
Zkscan2	T	C	7: 123,079,423 (GRCm39)	T845A	possibly damaging	Het

Other mutations in C2cd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:C2cd2	APN	16	97,671,420 (GRCm39)	missense	probably damaging	1.00
IGL01633:C2cd2	APN	16	97,676,323 (GRCm39)	splice site	probably benign
IGL01731:C2cd2	APN	16	97,671,372 (GRCm39)	missense	probably damaging	1.00
IGL02071:C2cd2	APN	16	97,671,432 (GRCm39)	missense	probably damaging	1.00
IGL02086:C2cd2	APN	16	97,691,208 (GRCm39)	splice site	probably benign
IGL02502:C2cd2	APN	16	97,677,590 (GRCm39)	missense	possibly damaging	0.85
IGL02933:C2cd2	APN	16	97,693,401 (GRCm39)	missense	probably benign	0.22
IGL03005:C2cd2	APN	16	97,660,632 (GRCm39)	missense	probably damaging	0.99
IGL03493:C2cd2	APN	16	97,682,861 (GRCm39)	missense	probably damaging	0.97
H8562:C2cd2	UTSW	16	97,680,840 (GRCm39)	missense	possibly damaging	0.91
H8786:C2cd2	UTSW	16	97,680,840 (GRCm39)	missense	possibly damaging	0.91
R0480:C2cd2	UTSW	16	97,678,348 (GRCm39)	missense	probably benign	0.45
R0483:C2cd2	UTSW	16	97,660,788 (GRCm39)	splice site	probably benign
R1294:C2cd2	UTSW	16	97,723,469 (GRCm39)	missense	probably damaging	1.00
R1986:C2cd2	UTSW	16	97,671,471 (GRCm39)	missense	probably damaging	1.00
R2518:C2cd2	UTSW	16	97,723,286 (GRCm39)	missense	probably benign	0.01
R5468:C2cd2	UTSW	16	97,669,791 (GRCm39)	splice site	probably null
R5507:C2cd2	UTSW	16	97,682,820 (GRCm39)	missense	probably benign	0.01
R5979:C2cd2	UTSW	16	97,676,418 (GRCm39)	missense	probably benign	0.01
R6466:C2cd2	UTSW	16	97,680,822 (GRCm39)	missense	probably benign
R7264:C2cd2	UTSW	16	97,677,419 (GRCm39)	critical splice donor site	probably null
R7372:C2cd2	UTSW	16	97,676,580 (GRCm39)	missense
R8003:C2cd2	UTSW	16	97,687,286 (GRCm39)	critical splice donor site	probably null
R8181:C2cd2	UTSW	16	97,693,502 (GRCm39)	missense	probably benign	0.21
R8340:C2cd2	UTSW	16	97,670,013 (GRCm39)	missense	probably benign	0.00
R8506:C2cd2	UTSW	16	97,676,621 (GRCm39)	missense
R9072:C2cd2	UTSW	16	97,676,403 (GRCm39)	missense	probably damaging	1.00
R9145:C2cd2	UTSW	16	97,677,486 (GRCm39)	missense	probably damaging	1.00
R9175:C2cd2	UTSW	16	97,678,421 (GRCm39)	missense	probably benign	0.00
R9369:C2cd2	UTSW	16	97,723,333 (GRCm39)	missense	possibly damaging	0.58
R9659:C2cd2	UTSW	16	97,723,473 (GRCm39)	missense	possibly damaging	0.87
R9668:C2cd2	UTSW	16	97,671,418 (GRCm39)	missense	probably damaging	1.00
R9788:C2cd2	UTSW	16	97,723,473 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ATCCAGGAAAGGAGTGTGTCCGAC -3'
(R):5'- TGGGAAGAAGAGCCTTTGCCTTGC -3'

Sequencing Primer
(F):5'- AGTGTGTCCGACTCCCG -3'
(R):5'- GGAGCAGCTTCCTCTGTC -3'

Posted On

2015-02-04