Mutagenetix > Incidental Mutation

Incidental Mutation 'R2446:Ercc2'

250569

Institutional Source

Beutler Lab

Gene Symbol

Ercc2

Ensembl Gene

ENSMUSG00000030400

Gene Name

excision repair cross-complementing rodent repair deficiency, complementation group 2

Synonyms

RCO015, Ercc-2, Mhdarco15, XPD

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19115942-19129619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19120869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 223 (I223T)

Ref Sequence

ENSEMBL: ENSMUSP00000104100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062831] [ENSMUST00000108460] [ENSMUST00000108461]

AlphaFold

O08811

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062831
AA Change: I244T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400
AA Change: I244T

Domain	Start	End	E-Value	Type
DEXDc	8	280	1.62e-144	SMART
Blast:DEXDc2	340	369	3e-10	BLAST
Blast:DEXDc	412	467	9e-27	BLAST
HELICc	542	686	1.32e-76	SMART
low complexity region	733	751	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102360

Predicted Effect

probably damaging
Transcript: ENSMUST00000108460
AA Change: I223T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400
AA Change: I223T

Domain	Start	End	E-Value	Type
DEXDc	8	259	1.7e-120	SMART
Blast:DEXDc2	319	348	3e-10	BLAST
Blast:DEXDc	391	446	8e-27	BLAST
HELICc	521	665	1.32e-76	SMART
low complexity region	712	730	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108461

SMART Domains

Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400

Domain	Start	End	E-Value	Type
Pfam:DUF1227	16	161	4.5e-60	PFAM
Blast:HELICc2	193	262	1e-40	BLAST
HELICc	290	434	1.32e-76	SMART
low complexity region	481	499	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128167

Predicted Effect

unknown
Transcript: ENSMUST00000129249
AA Change: I167T

SMART Domains

Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400
AA Change: I167T

Domain	Start	End	E-Value	Type
DEXDc	10	204	1.14e-71	SMART
Blast:DEXDc2	264	293	2e-10	BLAST
Blast:DEXDc	336	391	5e-27	BLAST
HELICc	466	610	1.32e-76	SMART
low complexity region	657	675	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136055

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,225,101 (GRCm39)	R527G	probably benign	Het
Cap1	T	A	4: 122,758,401 (GRCm39)	I260F	probably benign	Het
Chst9	T	C	18: 15,585,895 (GRCm39)	K223E	possibly damaging	Het
Dpy19l4	A	T	4: 11,304,143 (GRCm39)		probably null	Het
Hydin	T	C	8: 111,314,347 (GRCm39)	L4277P	possibly damaging	Het
Ibtk	T	C	9: 85,585,126 (GRCm39)	N1173D	probably benign	Het
Klra17	T	A	6: 129,808,477 (GRCm39)	H252L	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Npc1	A	G	18: 12,347,396 (GRCm39)	V208A	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or5b107	T	G	19: 13,142,811 (GRCm39)	C144W	probably benign	Het
P2rx7	A	T	5: 122,818,879 (GRCm39)	M434L	probably benign	Het
Pcdhb9	G	A	18: 37,536,340 (GRCm39)	G778E	probably damaging	Het
Prss3b	A	G	6: 41,008,582 (GRCm39)	I244T	probably benign	Het
Scn7a	A	G	2: 66,523,002 (GRCm39)	Y901H	probably damaging	Het
Tlcd1	G	A	11: 78,069,623 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn2r3	A	G	3: 64,182,733 (GRCm39)	I322T	probably damaging	Het
Zbtb38	C	T	9: 96,569,699 (GRCm39)	V462M	probably damaging	Het

Other mutations in Ercc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Ercc2	APN	7	19,124,342 (GRCm39)	missense	probably benign	0.03
IGL01767:Ercc2	APN	7	19,124,346 (GRCm39)	missense	probably damaging	1.00
IGL01810:Ercc2	APN	7	19,127,374 (GRCm39)	missense	probably damaging	1.00
IGL02485:Ercc2	APN	7	19,127,970 (GRCm39)	missense	possibly damaging	0.83
IGL02891:Ercc2	APN	7	19,127,211 (GRCm39)	missense	probably damaging	1.00
IGL03010:Ercc2	APN	7	19,125,491 (GRCm39)	missense	possibly damaging	0.89
R0304:Ercc2	UTSW	7	19,120,633 (GRCm39)	missense	possibly damaging	0.75
R0512:Ercc2	UTSW	7	19,127,812 (GRCm39)	missense	probably damaging	0.99
R1467:Ercc2	UTSW	7	19,119,811 (GRCm39)	missense	probably benign	0.05
R1467:Ercc2	UTSW	7	19,119,811 (GRCm39)	missense	probably benign	0.05
R1600:Ercc2	UTSW	7	19,119,866 (GRCm39)	missense	probably benign	0.00
R1636:Ercc2	UTSW	7	19,121,049 (GRCm39)	missense	possibly damaging	0.94
R2156:Ercc2	UTSW	7	19,120,717 (GRCm39)	missense	possibly damaging	0.95
R4458:Ercc2	UTSW	7	19,127,771 (GRCm39)	missense	probably damaging	1.00
R4869:Ercc2	UTSW	7	19,120,732 (GRCm39)	missense	probably damaging	1.00
R5861:Ercc2	UTSW	7	19,128,066 (GRCm39)	missense	possibly damaging	0.91
R6960:Ercc2	UTSW	7	19,127,615 (GRCm39)	missense	probably damaging	0.98
R7301:Ercc2	UTSW	7	19,128,060 (GRCm39)	missense	probably benign	0.09
R7354:Ercc2	UTSW	7	19,127,579 (GRCm39)	missense	possibly damaging	0.91
R8485:Ercc2	UTSW	7	19,122,165 (GRCm39)	missense	possibly damaging	0.89
R9521:Ercc2	UTSW	7	19,125,899 (GRCm39)	missense	probably damaging	0.99
R9574:Ercc2	UTSW	7	19,124,060 (GRCm39)	missense	probably benign	0.02
Z1176:Ercc2	UTSW	7	19,119,593 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGTTTACAGCTACCACTACC -3'
(R):5'- CGTCTCCTTGATCCTGATGG -3'

Sequencing Primer
(F):5'- AGATCGCAGACCTGGTATCC -3'
(R):5'- GGGACATGGGACAGGAGCTG -3'

Posted On

2014-11-12