Mutagenetix > Incidental Mutation

Incidental Mutation 'R8083:Nt5dc2'

629477

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc2

Ensembl Gene

ENSMUSG00000071547

Gene Name

5'-nucleotidase domain containing 2

Synonyms

2510015F01Rik

MMRRC Submission

067516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30853046-30861081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30856783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 103 (Y103C)

Ref Sequence

ENSEMBL: ENSMUSP00000154475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036618] [ENSMUST00000090212] [ENSMUST00000160024] [ENSMUST00000226588] [ENSMUST00000227096] [ENSMUST00000227794]

AlphaFold

A0A2I3BR81

Predicted Effect

probably benign
Transcript: ENSMUST00000036618

SMART Domains

Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF	112	149	6.65e-2	SMART
EGF	160	194	2.28e0	SMART
EGF	199	232	1.4e0	SMART
EGF	236	272	4.97e-1	SMART
EGF	276	319	1.95e1	SMART
EGF_like	321	357	5.03e1	SMART
low complexity region	400	413	N/A	INTRINSIC
Blast:FAS1	414	501	2e-52	BLAST
FAS1	543	645	1.35e-24	SMART
EGF_like	780	817	5.45e1	SMART
EGF	822	861	1.08e-1	SMART
EGF	865	904	3.15e-3	SMART
EGF	908	947	1.3e1	SMART
EGF	951	989	1.47e1	SMART
FAS1	1023	1122	1.3e-17	SMART
FAS1	1165	1257	2.94e0	SMART
EGF	1332	1369	1.4e0	SMART
EGF	1379	1413	1.88e-1	SMART
EGF	1420	1455	6.02e0	SMART
EGF	1459	1497	3.82e-2	SMART
EGF	1501	1540	2.05e-2	SMART
EGF	1544	1583	2.25e1	SMART
FAS1	1616	1712	1.61e-22	SMART
FAS1	1763	1868	2.12e-17	SMART
EGF	1970	2007	1.26e-2	SMART
EGF	2017	2051	1.61e0	SMART
EGF	2059	2090	2.45e0	SMART
EGF	2094	2131	3.46e0	SMART
EGF	2135	2174	3.82e-2	SMART
LINK	2206	2301	8.55e-49	SMART
FAS1	2367	2462	2.06e-6	SMART
transmembrane domain	2476	2498	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090212

SMART Domains

Protein: ENSMUSP00000087680
Gene: ENSMUSG00000071547

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	1	367	1.5e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160024

SMART Domains

Protein: ENSMUSP00000125239
Gene: ENSMUSG00000042286

Domain	Start	End	E-Value	Type
Blast:FAS1	1	32	5e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000226588
AA Change: Y64C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227096
AA Change: Y103C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227794
AA Change: Y43C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.9010

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,282,987 (GRCm39)	E255G	possibly damaging	Het
Abcg5	A	T	17: 84,965,971 (GRCm39)	L635Q	probably damaging	Het
Acsl3	G	A	1: 78,669,844 (GRCm39)	D238N	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adamtsl4	C	T	3: 95,591,711 (GRCm39)	V126M	possibly damaging	Het
Apobec1	G	A	6: 122,555,888 (GRCm39)	P190S	probably damaging	Het
Arel1	A	T	12: 84,987,136 (GRCm39)	H93Q	probably benign	Het
Bpifa2	T	G	2: 153,852,412 (GRCm39)	V96G	probably damaging	Het
Cacna1s	G	A	1: 136,023,529 (GRCm39)	V923I	possibly damaging	Het
Caprin2	A	C	6: 148,744,346 (GRCm39)	Y1026*	probably null	Het
Cdk8	T	G	5: 146,205,100 (GRCm39)	W34G	probably damaging	Het
Cdkn3	A	T	14: 47,000,058 (GRCm39)	Q28L	probably benign	Het
Cfap58	A	G	19: 47,971,957 (GRCm39)	E629G	probably damaging	Het
Chaf1b	T	A	16: 93,691,630 (GRCm39)	C255S	probably damaging	Het
Clcn4	A	G	7: 7,294,427 (GRCm39)	F445L	possibly damaging	Het
Cpne6	A	C	14: 55,750,698 (GRCm39)	I140L	probably benign	Het
Cyp2b23	C	A	7: 26,385,828 (GRCm39)	A10S	possibly damaging	Het
Eci3	G	T	13: 35,140,873 (GRCm39)	T103K	probably benign	Het
Eri3	T	A	4: 117,450,359 (GRCm39)	M253K	probably damaging	Het
Gm21103	C	T	14: 17,482,895 (GRCm39)	V169M	possibly damaging	Het
Gm6594	G	A	17: 82,846,897 (GRCm39)	A71T	probably benign	Het
Gns	T	C	10: 121,214,008 (GRCm39)	S228P	probably damaging	Het
Hbegf	A	T	18: 36,648,224 (GRCm39)	S46T	probably benign	Het
Hcn1	GCAACAACA	GCAACAACAACA	13: 118,112,296 (GRCm39)		probably benign	Het
Mcf2l	T	A	8: 13,057,875 (GRCm39)		probably null	Het
Nfasc	T	C	1: 132,524,320 (GRCm39)	D846G	probably benign	Het
Osbpl9	C	T	4: 108,943,572 (GRCm39)	V147M	possibly damaging	Het
Pid1	T	C	1: 84,015,970 (GRCm39)	I146V	probably benign	Het
Rangap1	A	G	15: 81,603,101 (GRCm39)	I108T	probably benign	Het
Rbm12b1	T	C	4: 12,146,409 (GRCm39)	Y794H	probably damaging	Het
Rprd1b	T	C	2: 157,892,052 (GRCm39)	S192P	probably damaging	Het
Sacs	A	T	14: 61,448,166 (GRCm39)	D3404V	possibly damaging	Het
Setd5	G	T	6: 113,091,971 (GRCm39)	G264V	probably damaging	Het
Tagln2	A	T	1: 172,332,766 (GRCm39)	I18F	possibly damaging	Het
Tex51	T	C	18: 32,591,807 (GRCm39)		probably null	Het
Ttc17	C	A	2: 94,204,909 (GRCm39)	V338F	probably damaging	Het
Xirp2	T	A	2: 67,339,043 (GRCm39)	M428K	possibly damaging	Het
Zfp503	A	T	14: 22,036,132 (GRCm39)	D261E	probably damaging	Het
Zfp784	T	C	7: 5,038,905 (GRCm39)	T218A	possibly damaging	Het
Zp3	A	C	5: 136,013,376 (GRCm39)	D236A	probably damaging	Het

Other mutations in Nt5dc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Earthen	UTSW	14	30,860,832 (GRCm39)	missense	probably damaging	1.00
Shard	UTSW	14	30,860,878 (GRCm39)	missense	possibly damaging	0.61
R1782:Nt5dc2	UTSW	14	30,860,158 (GRCm39)	missense	probably damaging	1.00
R3974:Nt5dc2	UTSW	14	30,860,832 (GRCm39)	missense	probably damaging	1.00
R3975:Nt5dc2	UTSW	14	30,860,832 (GRCm39)	missense	probably damaging	1.00
R3976:Nt5dc2	UTSW	14	30,860,832 (GRCm39)	missense	probably damaging	1.00
R4542:Nt5dc2	UTSW	14	30,860,095 (GRCm39)	missense	probably benign	0.29
R4677:Nt5dc2	UTSW	14	30,860,878 (GRCm39)	missense	possibly damaging	0.61
R4953:Nt5dc2	UTSW	14	30,860,878 (GRCm39)	missense	possibly damaging	0.61
R5092:Nt5dc2	UTSW	14	30,860,989 (GRCm39)	missense	possibly damaging	0.86
R6523:Nt5dc2	UTSW	14	30,857,662 (GRCm39)	missense	probably damaging	1.00
R7984:Nt5dc2	UTSW	14	30,860,775 (GRCm39)	missense	probably damaging	1.00
R8165:Nt5dc2	UTSW	14	30,860,886 (GRCm39)	missense	probably damaging	1.00
R9108:Nt5dc2	UTSW	14	30,857,016 (GRCm39)	nonsense	probably null
R9224:Nt5dc2	UTSW	14	30,857,665 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- ACTGCAATGGCCAAGATGTC -3'
(R):5'- ATACTTCCGGATCCCCTCAG -3'

Sequencing Primer
(F):5'- CAATGGCCAAGATGTCTCGTG -3'
(R):5'- AGTAGCAGTGCTAGCCCC -3'

Posted On

2020-06-30