Mutagenetix > Incidental Mutation

Incidental Mutation 'R5251:Dph2'

399021

Institutional Source

Beutler Lab

Gene Symbol

Dph2

Ensembl Gene

ENSMUSG00000028540

Gene Name

DPH2 homolog

Synonyms

Dph2l2, 9130020C19Rik

MMRRC Submission

042822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117745838-117749220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117747543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 280 (D280E)

Ref Sequence

ENSEMBL: ENSMUSP00000030265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030265] [ENSMUST00000036156] [ENSMUST00000036380] [ENSMUST00000132073] [ENSMUST00000183773] [ENSMUST00000150204] [ENSMUST00000149868] [ENSMUST00000136596] [ENSMUST00000147845]

AlphaFold

Q9CR25

Predicted Effect

probably damaging
Transcript: ENSMUST00000030265
AA Change: D280E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030265
Gene: ENSMUSG00000028540
AA Change: D280E

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	54	375	2.8e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036156

SMART Domains

Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
IBN_N	45	111	2.05e-7	SMART
Pfam:Xpo1	116	263	4.8e-29	PFAM
low complexity region	668	692	N/A	INTRINSIC
low complexity region	767	779	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036380

SMART Domains

Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:ATP-synt_C	50	112	1.2e-15	PFAM
Pfam:ATP-synt_C	136	198	1.8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128263

Predicted Effect

probably benign
Transcript: ENSMUST00000132073

SMART Domains

Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	1.4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134752

Predicted Effect

probably benign
Transcript: ENSMUST00000183773

Predicted Effect

probably benign
Transcript: ENSMUST00000150204

SMART Domains

Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	8.2e-19	PFAM
Pfam:ATP-synt_C	88	152	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149868

SMART Domains

Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	3.1e-19	PFAM
transmembrane domain	84	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136596

Predicted Effect

probably benign
Transcript: ENSMUST00000147845

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	T	5: 36,108,236 (GRCm39)	E194V	probably damaging	Het
Ankrd16	T	A	2: 11,783,552 (GRCm39)	D51E	probably damaging	Het
Arhgef5	A	G	6: 43,249,815 (GRCm39)	T189A	possibly damaging	Het
Camk4	A	G	18: 33,317,932 (GRCm39)	D363G	probably benign	Het
Camta1	A	G	4: 151,248,341 (GRCm39)	I199T	probably damaging	Het
Ccdc141	C	T	2: 76,858,118 (GRCm39)	C1021Y	probably damaging	Het
Cdc34	C	T	10: 79,521,090 (GRCm39)	S129L	probably damaging	Het
Cenph	T	A	13: 100,898,348 (GRCm39)	N185I	possibly damaging	Het
Colq	A	G	14: 31,261,776 (GRCm39)		probably null	Het
Exosc5	A	G	7: 25,367,180 (GRCm39)	Y224C	probably damaging	Het
Fgfr3	C	T	5: 33,892,900 (GRCm39)		probably benign	Het
Hs3st6	T	A	17: 24,976,959 (GRCm39)	D146E	probably benign	Het
Igkv13-84	A	T	6: 68,916,772 (GRCm39)	Q23L	probably benign	Het
Macf1	A	G	4: 123,343,760 (GRCm39)	V2154A	probably benign	Het
Man1a2	T	C	3: 100,527,415 (GRCm39)	E225G	probably damaging	Het
Mertk	T	C	2: 128,571,375 (GRCm39)	S110P	probably damaging	Het
Nav3	A	G	10: 109,689,114 (GRCm39)	F388L	probably damaging	Het
Nme8	T	C	13: 19,844,795 (GRCm39)	N98S	probably benign	Het
Nup205	A	G	6: 35,173,417 (GRCm39)		probably null	Het
Prl7d1	T	C	13: 27,893,227 (GRCm39)	N228S	probably benign	Het
Prss23	T	C	7: 89,159,530 (GRCm39)	K180E	probably damaging	Het
Psap	G	A	10: 60,137,479 (GRCm39)	D549N	probably damaging	Het
Sec16a	A	G	2: 26,329,357 (GRCm39)	V886A	probably benign	Het
Sh2d1b2	A	T	1: 170,077,642 (GRCm39)	E81D	probably benign	Het
Tbx6	A	T	7: 126,382,516 (GRCm39)	N254I	probably damaging	Het
Tchhl1	T	C	3: 93,377,860 (GRCm39)	V188A	possibly damaging	Het
Trpc3	A	T	3: 36,725,103 (GRCm39)	L291Q	probably damaging	Het
Zbtb38	G	T	9: 96,569,161 (GRCm39)	T641N	probably benign	Het

Other mutations in Dph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0295:Dph2	UTSW	4	117,748,127 (GRCm39)	missense	possibly damaging	0.96
R1381:Dph2	UTSW	4	117,746,865 (GRCm39)	missense	probably damaging	1.00
R1958:Dph2	UTSW	4	117,749,041 (GRCm39)	missense	probably damaging	1.00
R4959:Dph2	UTSW	4	117,748,527 (GRCm39)	missense	probably damaging	1.00
R4973:Dph2	UTSW	4	117,748,527 (GRCm39)	missense	probably damaging	1.00
R6982:Dph2	UTSW	4	117,746,993 (GRCm39)	missense	probably benign
R7383:Dph2	UTSW	4	117,748,566 (GRCm39)	missense	probably damaging	1.00
R7658:Dph2	UTSW	4	117,747,478 (GRCm39)	missense	possibly damaging	0.63
R8896:Dph2	UTSW	4	117,747,575 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCGTCAATACAGGCCGAAAG -3'
(R):5'- TTCTCAAGCAAGCTCGGACTC -3'

Sequencing Primer
(F):5'- CCCAGGGGACAGGCTAACAG -3'
(R):5'- AAGCTCGGACTCCAGCCTTG -3'

Posted On

2016-07-06