Mutagenetix > Incidental Mutation

Incidental Mutation 'R1242:Cmc2'

152042

Institutional Source

Beutler Lab

Gene Symbol

Cmc2

Ensembl Gene

ENSMUSG00000014633

Gene Name

C-X9-C motif containing 2

Synonyms

1110046L09Rik, 2310061C15Rik

MMRRC Submission

039309-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R1242 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117615424-117648194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117637937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 4 (D4G)

Ref Sequence

ENSEMBL: ENSMUSP00000120966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078589] [ENSMUST00000128304] [ENSMUST00000131616] [ENSMUST00000148235] [ENSMUST00000150128]

AlphaFold

Q8K199

Predicted Effect

probably damaging
Transcript: ENSMUST00000078589
AA Change: D4G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077663
Gene: ENSMUSG00000014633
AA Change: D4G

Domain	Start	End	E-Value	Type
Pfam:Cmc1	1	35	2.2e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128304
AA Change: D4G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120919
Gene: ENSMUSG00000014633
AA Change: D4G

Domain	Start	End	E-Value	Type
Pfam:Cmc1	1	43	2.5e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131616
AA Change: D4G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134356

Predicted Effect

probably damaging
Transcript: ENSMUST00000148235
AA Change: D4G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120966
Gene: ENSMUSG00000014633
AA Change: D4G

Domain	Start	End	E-Value	Type
Pfam:Cmc1	1	71	5.3e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150128
AA Change: D4G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs7	A	G	3: 36,632,576 (GRCm39)	F549L	probably damaging	Het
Cnr2	T	A	4: 135,644,294 (GRCm39)	L124Q	probably damaging	Het
Cobll1	T	C	2: 64,981,513 (GRCm39)		probably null	Het
Defb30	A	T	14: 63,273,455 (GRCm39)	Y53N	probably damaging	Het
Dtnb	T	A	12: 3,782,627 (GRCm39)	Y363*	probably null	Het
Fam170a	A	G	18: 50,415,206 (GRCm39)	E284G	probably damaging	Het
Gm16505	T	A	13: 3,411,109 (GRCm39)		noncoding transcript	Het
Gtf2h1	T	C	7: 46,462,175 (GRCm39)		probably null	Het
Gucy1a1	C	T	3: 82,013,260 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,022,767 (GRCm39)	N945I	probably damaging	Het
Hpse2	G	A	19: 42,955,416 (GRCm39)	T327I	probably benign	Het
Il3	T	C	11: 54,157,929 (GRCm39)	I50V	probably benign	Het
Mgat5b	A	G	11: 116,869,230 (GRCm39)	K591R	probably benign	Het
Nup214	C	T	2: 31,867,782 (GRCm39)	T83I	probably benign	Het
Or2v2	A	T	11: 49,003,728 (GRCm39)	V275E	possibly damaging	Het
Rp1	T	A	1: 4,415,185 (GRCm39)	I1976F	probably benign	Het
Sardh	T	A	2: 27,125,575 (GRCm39)	D313V	probably damaging	Het
Tent5c	A	T	3: 100,380,192 (GRCm39)	L188Q	probably damaging	Het
Vmn1r173	C	T	7: 23,402,650 (GRCm39)	P295L	probably damaging	Het
Vmn1r38	A	C	6: 66,753,344 (GRCm39)	Y257*	probably null	Het
Xkr4	T	A	1: 3,286,360 (GRCm39)	D610V	probably damaging	Het

Other mutations in Cmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02541:Cmc2	APN	8	117,620,883 (GRCm39)	missense	probably benign	0.15
R4837:Cmc2	UTSW	8	117,620,879 (GRCm39)	missense	probably damaging	0.98
R6084:Cmc2	UTSW	8	117,616,566 (GRCm39)	utr 3 prime	probably benign
R6327:Cmc2	UTSW	8	117,620,896 (GRCm39)	missense	probably damaging	1.00
R7680:Cmc2	UTSW	8	117,620,849 (GRCm39)	missense	probably damaging	1.00
R7939:Cmc2	UTSW	8	117,616,513 (GRCm39)	missense	unknown
R7992:Cmc2	UTSW	8	117,616,446 (GRCm39)	nonsense	probably null
R8951:Cmc2	UTSW	8	117,637,904 (GRCm39)	missense	probably damaging	1.00
R9454:Cmc2	UTSW	8	117,616,550 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCGACAACCCTGAATTATGCCAGTG -3'
(R):5'- TCTGCAAAGTCCTTAAAGCAGGAGC -3'

Sequencing Primer
(F):5'- CCTTCACTAGGACATGTGAGGAC -3'
(R):5'- AGCTCCTACCAGCCTGAC -3'

Posted On

2014-01-29