Mutagenetix > Incidental Mutation

Incidental Mutation 'R5573:Ube2v2'

435795

Institutional Source

Beutler Lab

Gene Symbol

Ube2v2

Ensembl Gene

ENSMUSG00000022674

Gene Name

ubiquitin-conjugating enzyme E2 variant 2

Synonyms

4632410D19Rik, 5730524P06Rik, MMS2, 1110021H13Rik

MMRRC Submission

043128-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R5573 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

15368850-15412382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15374343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 77 (L77P)

Ref Sequence

ENSEMBL: ENSMUSP00000111442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096234] [ENSMUST00000115776] [ENSMUST00000115777] [ENSMUST00000118236] [ENSMUST00000229859]

AlphaFold

Q9D2M8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096234
AA Change: L79P

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093951
Gene: ENSMUSG00000022674
AA Change: L79P

Domain	Start	End	E-Value	Type
UBCc	2	105	1.06e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115776
AA Change: L77P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111442
Gene: ENSMUSG00000022674
AA Change: L77P

Domain	Start	End	E-Value	Type
PDB:1J7D\|A	1	103	1e-63	PDB
SCOP:d1jatb_	8	101	2e-31	SMART
Blast:UBCc	13	103	1e-53	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115777
AA Change: L119P

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111443
Gene: ENSMUSG00000022674
AA Change: L119P

Domain	Start	End	E-Value	Type
UBCc	13	145	7.83e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118236
AA Change: L37P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112802
Gene: ENSMUSG00000022674
AA Change: L37P

Domain	Start	End	E-Value	Type
Blast:UBCc	1	61	2e-32	BLAST
SCOP:d1jatb_	1	61	9e-9	SMART
PDB:1J7D\|A	1	63	2e-32	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229859
AA Change: L79P

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef28	A	T	13: 98,065,999 (GRCm39)	V1618D	probably benign	Het
Asic5	T	A	3: 81,911,791 (GRCm39)	F129Y	probably benign	Het
Cachd1	A	C	4: 100,831,276 (GRCm39)	K689N	probably damaging	Het
Cbfa2t2	A	G	2: 154,278,782 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,108,482 (GRCm39)	V360A	probably damaging	Het
Col9a3	C	T	2: 180,261,525 (GRCm39)	A605V	probably benign	Het
Csn3	A	G	5: 88,077,910 (GRCm39)	T139A	probably benign	Het
Ddx27	G	T	2: 166,859,806 (GRCm39)	K79N	possibly damaging	Het
Dhx29	G	A	13: 113,069,749 (GRCm39)	D211N	probably benign	Het
Dlg2	A	G	7: 91,646,532 (GRCm39)		probably null	Het
Dse	C	A	10: 34,028,678 (GRCm39)	R804L	probably benign	Het
Fgb	T	C	3: 82,956,984 (GRCm39)		probably null	Het
Gm11011	A	T	2: 169,429,392 (GRCm39)	I31K	unknown	Het
Hira	A	G	16: 18,735,349 (GRCm39)	T272A	probably damaging	Het
Lcmt1	T	A	7: 123,000,686 (GRCm39)	H117Q	probably benign	Het
Mettl23	A	G	11: 116,734,437 (GRCm39)		probably benign	Het
Mtmr2	T	C	9: 13,704,463 (GRCm39)	Y197H	probably benign	Het
Myo9a	T	G	9: 59,778,284 (GRCm39)	S1347A	probably benign	Het
Myrfl	A	G	10: 116,658,661 (GRCm39)	V432A	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Obscn	G	T	11: 58,925,531 (GRCm39)	H6347Q	possibly damaging	Het
Or52r1b	A	T	7: 102,691,547 (GRCm39)	Y282F	probably damaging	Het
Or8b53	T	A	9: 38,667,000 (GRCm39)	N5K	probably damaging	Het
Peg10	A	G	6: 4,755,913 (GRCm39)		probably benign	Het
Pfkfb3	A	G	2: 11,506,483 (GRCm39)	V10A	probably benign	Het
Phf12	A	G	11: 77,915,871 (GRCm39)	D175G	probably damaging	Het
Plekhg6	T	G	6: 125,352,755 (GRCm39)	I131L	possibly damaging	Het
Ptbp3	A	G	4: 59,485,626 (GRCm39)	V95A	probably damaging	Het
Rbbp8	A	G	18: 11,855,664 (GRCm39)	T604A	probably benign	Het
Rbbp8nl	G	A	2: 179,921,586 (GRCm39)	P266L	possibly damaging	Het
Ryr1	T	C	7: 28,715,148 (GRCm39)	S4659G	unknown	Het
Serpinb9d	A	G	13: 33,380,423 (GRCm39)		probably null	Het
Slc22a28	A	C	19: 8,048,462 (GRCm39)	I395S	possibly damaging	Het
Slco6c1	T	A	1: 97,055,656 (GRCm39)	I82L	probably benign	Het
Sptan1	C	T	2: 29,876,504 (GRCm39)	R295*	probably null	Het
Tdrd9	C	T	12: 111,964,336 (GRCm39)		probably null	Het
Ugt3a1	T	C	15: 9,361,769 (GRCm39)	S182P	probably damaging	Het
Vwa5b1	T	C	4: 138,336,201 (GRCm39)	E131G	probably damaging	Het
Wdr18	C	T	10: 79,800,872 (GRCm39)	A145V	probably benign	Het
Xpnpep1	A	G	19: 52,993,253 (GRCm39)	I358T	probably damaging	Het
Zfp946	T	A	17: 22,673,676 (GRCm39)	C143*	probably null	Het

Other mutations in Ube2v2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02057:Ube2v2	APN	16	15,394,922 (GRCm39)	missense	probably benign	0.01
IGL02884:Ube2v2	APN	16	15,374,349 (GRCm39)	missense	probably benign	0.00
R5978:Ube2v2	UTSW	16	15,394,991 (GRCm39)	missense	probably benign	0.19
R7159:Ube2v2	UTSW	16	15,398,948 (GRCm39)	missense	probably benign	0.00
R7677:Ube2v2	UTSW	16	15,398,964 (GRCm39)	missense	probably benign
R8354:Ube2v2	UTSW	16	15,399,005 (GRCm39)	missense	possibly damaging	0.49
R9722:Ube2v2	UTSW	16	15,394,899 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTCATGTTTACCAGCTGC -3'
(R):5'- GTTGGACTAGGAATCAGTCAAGA -3'

Sequencing Primer
(F):5'- AGGTCATGTTTACCAGCTGCAATTC -3'
(R):5'- TACAAGAGTCCCTGGGAGCTCTATG -3'

Posted On

2016-10-24