Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03346:Creg2'

417467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Creg2

Ensembl Gene

ENSMUSG00000050967

Gene Name

cellular repressor of E1A-stimulated genes 2

Synonyms

A830098L22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL03346

Quality Score

Status

Chromosome

Chromosomal Location

39657574-39690350 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39689915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 65 (D65A)

Ref Sequence

ENSEMBL: ENSMUSP00000052871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053355]

AlphaFold

Q8BGC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000053355
AA Change: D65A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052871
Gene: ENSMUSG00000050967
AA Change: D65A

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
Pfam:Pyrid_oxidase_2	116	282	2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181841

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	C	T	16: 29,133,422 (GRCm39)	V410M	probably benign	Het
Cdkn2aip	G	T	8: 48,166,653 (GRCm39)	D51E	probably benign	Het
Chd6	A	G	2: 160,802,282 (GRCm39)	V2184A	probably benign	Het
Clcn1	C	T	6: 42,288,153 (GRCm39)	T797I	probably benign	Het
Cldn23	G	A	8: 36,292,594 (GRCm39)		probably benign	Het
Cntnap4	A	G	8: 113,500,208 (GRCm39)	D500G	probably benign	Het
Cog5	A	T	12: 31,944,037 (GRCm39)	I641F	possibly damaging	Het
Cr2	A	T	1: 194,852,067 (GRCm39)	V94E	probably damaging	Het
Dennd4a	A	G	9: 64,795,808 (GRCm39)	R711G	possibly damaging	Het
Efr3b	A	G	12: 4,034,648 (GRCm39)	V58A	probably damaging	Het
Fbxo3	A	G	2: 103,880,639 (GRCm39)	T250A	probably damaging	Het
Fzr1	T	C	10: 81,205,018 (GRCm39)	T300A	probably benign	Het
Gabrg1	A	T	5: 70,935,474 (GRCm39)	Y227N	possibly damaging	Het
Gins3	A	G	8: 96,369,903 (GRCm39)	I197V	probably benign	Het
Gm17079	T	C	14: 51,930,420 (GRCm39)	T142A	possibly damaging	Het
Gna15	T	C	10: 81,338,879 (GRCm39)	Y320C	probably damaging	Het
H2-T5	C	A	17: 36,479,001 (GRCm39)	D83Y	probably damaging	Het
Hibch	G	A	1: 52,959,539 (GRCm39)		probably benign	Het
Kif5b	G	A	18: 6,222,767 (GRCm39)	R355W	probably damaging	Het
Klf1	T	C	8: 85,629,561 (GRCm39)	S129P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Nat8f5	A	G	6: 85,794,640 (GRCm39)	S107P	probably damaging	Het
Or2t49	A	G	11: 58,392,581 (GRCm39)	L267P	possibly damaging	Het
Or8g24	T	A	9: 38,989,258 (GRCm39)	Q261L	probably damaging	Het
Or8g24	C	A	9: 38,989,257 (GRCm39)	Q261H	probably benign	Het
Pcdhb18	G	A	18: 37,622,674 (GRCm39)	M1I	probably null	Het
Plcb3	A	G	19: 6,932,420 (GRCm39)	F1080L	probably benign	Het
Polr2g	T	C	19: 8,775,669 (GRCm39)	H14R	probably damaging	Het
Rp1l1	A	G	14: 64,266,889 (GRCm39)	D825G	probably benign	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Slc25a54	T	C	3: 108,993,046 (GRCm39)		probably benign	Het
Smad9	C	A	3: 54,696,636 (GRCm39)	Q234K	probably benign	Het
Tie1	T	C	4: 118,330,025 (GRCm39)	Y1066C	probably damaging	Het
Traf1	T	C	2: 34,838,484 (GRCm39)	E118G	probably benign	Het
Ttc21b	T	C	2: 66,068,192 (GRCm39)	D278G	possibly damaging	Het
Uaca	C	A	9: 60,761,600 (GRCm39)	T204K	probably damaging	Het
Utrn	A	T	10: 12,401,096 (GRCm39)	Y154N	probably benign	Het
Virma	A	G	4: 11,518,984 (GRCm39)	T694A	probably benign	Het
Vmn2r50	T	C	7: 9,779,929 (GRCm39)	D500G	probably damaging	Het
Vmn2r59	T	A	7: 41,693,253 (GRCm39)	H449L	probably benign	Het

Other mutations in Creg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0964:Creg2	UTSW	1	39,664,144 (GRCm39)	missense	probably benign	0.01
R1661:Creg2	UTSW	1	39,662,372 (GRCm39)	nonsense	probably null
R1665:Creg2	UTSW	1	39,662,372 (GRCm39)	nonsense	probably null
R2131:Creg2	UTSW	1	39,664,146 (GRCm39)	missense	probably benign	0.09
R2156:Creg2	UTSW	1	39,662,338 (GRCm39)	missense	probably damaging	1.00
R4817:Creg2	UTSW	1	39,662,358 (GRCm39)	missense	probably damaging	0.99
R5964:Creg2	UTSW	1	39,664,122 (GRCm39)	missense	probably benign	0.04
R7054:Creg2	UTSW	1	39,662,376 (GRCm39)	missense	probably benign	0.13
R7834:Creg2	UTSW	1	39,689,802 (GRCm39)	missense	probably damaging	0.99
R7923:Creg2	UTSW	1	39,690,071 (GRCm39)	missense	probably benign	0.17
R8033:Creg2	UTSW	1	39,689,795 (GRCm39)	missense	probably damaging	1.00
R8877:Creg2	UTSW	1	39,689,861 (GRCm39)	missense	probably benign	0.05

Posted On

2016-08-02