Mutagenetix > Incidental Mutation

Incidental Mutation 'R5092:Nt5dc2'

387867

Institutional Source

Beutler Lab

Gene Symbol

Nt5dc2

Ensembl Gene

ENSMUSG00000071547

Gene Name

5'-nucleotidase domain containing 2

Synonyms

2510015F01Rik

MMRRC Submission

042681-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30853046-30861081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30860989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 491 (H491R)

Ref Sequence

ENSEMBL: ENSMUSP00000154613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036618] [ENSMUST00000090212] [ENSMUST00000159249] [ENSMUST00000160024] [ENSMUST00000227096] [ENSMUST00000227794] [ENSMUST00000226588]

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

possibly damaging
Transcript: ENSMUST00000090212
AA Change: H388R

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087680
Gene: ENSMUSG00000071547
AA Change: H388R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159208

Predicted Effect

probably benign
Transcript: ENSMUST00000159249

SMART Domains

Protein: ENSMUSP00000125542
Gene: ENSMUSG00000042286

Domain	Start	End	E-Value	Type
EGF	110	147	1.26e-2	SMART
EGF	157	191	1.61e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159480

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

noncoding transcript
Transcript: ENSMUST00000160720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162169

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227096
AA Change: H551R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000226975
AA Change: H461R

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227794
AA Change: H491R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000226588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227690

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,637,091 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,208,535 (GRCm39)	L236Q	probably damaging	Het
Acp2	A	T	2: 91,038,391 (GRCm39)	T255S	probably benign	Het
Acsf3	A	C	8: 123,544,131 (GRCm39)	R536S	probably benign	Het
Adgrb1	T	G	15: 74,401,664 (GRCm39)	V220G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atp5f1b	A	G	10: 127,919,854 (GRCm39)	Q74R	probably benign	Het
Bltp1	A	T	3: 37,054,234 (GRCm39)	M3118L	probably benign	Het
Brf1	G	A	12: 112,943,352 (GRCm39)	T166M	probably damaging	Het
Capn9	A	G	8: 125,324,264 (GRCm39)	K188R	probably damaging	Het
Casp8	A	T	1: 58,883,835 (GRCm39)	N381Y	possibly damaging	Het
Ccdc88b	A	G	19: 6,825,600 (GRCm39)	S1218P	probably damaging	Het
Cdc42bpg	C	T	19: 6,363,250 (GRCm39)	P403S	probably benign	Het
Cdkal1	T	A	13: 30,030,222 (GRCm39)	Y91F	probably damaging	Het
Cdyl2	T	C	8: 117,350,679 (GRCm39)	N151D	possibly damaging	Het
Cnot1	T	A	8: 96,479,396 (GRCm39)	R875S	possibly damaging	Het
Cpd	A	G	11: 76,702,530 (GRCm39)	S613P	possibly damaging	Het
Cyp2e1	G	T	7: 140,354,648 (GRCm39)	R492L	probably damaging	Het
D5Ertd579e	G	A	5: 36,760,047 (GRCm39)	T1371M	probably benign	Het
Dcaf8	A	G	1: 172,014,476 (GRCm39)	T394A	probably benign	Het
Dgka	T	C	10: 128,571,702 (GRCm39)	E117G	probably damaging	Het
Dock4	G	A	12: 40,894,440 (GRCm39)	V1867I	probably benign	Het
E2f2	G	T	4: 135,914,248 (GRCm39)	A333S	probably benign	Het
Eif3l	T	C	15: 78,968,354 (GRCm39)	S208P	probably benign	Het
Elovl3	A	T	19: 46,122,961 (GRCm39)	H179L	probably damaging	Het
Eml5	T	C	12: 98,758,875 (GRCm39)	D1766G	probably damaging	Het
Eno4	A	G	19: 58,934,023 (GRCm39)	T75A	probably benign	Het
Fam135a	C	T	1: 24,067,888 (GRCm39)	D94N	probably benign	Het
Fasn	G	T	11: 120,705,862 (GRCm39)	Q1136K	probably benign	Het
Fcer1a	T	G	1: 173,053,022 (GRCm39)	N58T	probably damaging	Het
Frmd4b	T	A	6: 97,272,941 (GRCm39)	D763V	probably damaging	Het
Gm43518	A	G	5: 124,076,297 (GRCm39)	T115A	probably damaging	Het
Gria4	C	T	9: 4,472,176 (GRCm39)	E438K	probably benign	Het
Grin2d	T	C	7: 45,503,692 (GRCm39)	E681G	probably damaging	Het
Gtf3c5	G	T	2: 28,472,885 (GRCm39)	N35K	possibly damaging	Het
Hydin	A	G	8: 111,309,300 (GRCm39)	T4031A	probably benign	Het
Igfn1	G	T	1: 135,892,564 (GRCm39)	N2185K	probably benign	Het
Il17rb	T	C	14: 29,724,333 (GRCm39)	T174A	probably benign	Het
Kdm3b	T	A	18: 34,946,515 (GRCm39)	C835S	probably benign	Het
Lgi2	A	T	5: 52,695,429 (GRCm39)	I510N	probably damaging	Het
Map3k6	A	G	4: 132,979,054 (GRCm39)	E1164G	probably benign	Het
Mpv17l	T	A	16: 13,758,537 (GRCm39)	M1K	probably null	Het
Myoc	T	A	1: 162,467,203 (GRCm39)	L124Q	probably damaging	Het
Nbeal2	C	A	9: 110,455,796 (GRCm39)		probably null	Het
Nek10	A	G	14: 14,820,851 (GRCm38)	K13E	possibly damaging	Het
Or4f61	A	C	2: 111,922,452 (GRCm39)	M198R	possibly damaging	Het
Or51b6	T	A	7: 103,556,406 (GRCm39)	Y250*	probably null	Het
Or8k21	T	C	2: 86,144,706 (GRCm39)	Q308R	probably benign	Het
Pclo	T	A	5: 14,727,322 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Phf20l1	T	A	15: 66,508,762 (GRCm39)	S873T	possibly damaging	Het
Plch1	T	C	3: 63,606,131 (GRCm39)	T1249A	probably benign	Het
Plekhn1	A	T	4: 156,309,222 (GRCm39)	I228N	possibly damaging	Het
Ppp1r12a	A	T	10: 108,103,263 (GRCm39)		probably null	Het
Ptchd3	T	C	11: 121,721,972 (GRCm39)	Y282H	probably damaging	Het
Ptprk	T	A	10: 28,468,769 (GRCm39)	N1396K	probably damaging	Het
Rap1gap2	T	C	11: 74,329,121 (GRCm39)	E81G	probably damaging	Het
Rpf2	T	C	10: 40,122,971 (GRCm39)	M1V	probably null	Het
Rpgrip1l	G	A	8: 91,948,012 (GRCm39)	Q1224*	probably null	Het
Rreb1	A	G	13: 38,112,254 (GRCm39)	D286G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Senp5	A	T	16: 31,807,960 (GRCm39)	N431K	probably benign	Het
Serpina1f	A	C	12: 103,659,809 (GRCm39)	S158A	probably damaging	Het
Sertad3	T	A	7: 27,176,145 (GRCm39)	I193N	probably damaging	Het
Slc22a8	T	A	19: 8,571,528 (GRCm39)	N86K	probably damaging	Het
Slc6a2	T	C	8: 93,721,347 (GRCm39)	V492A	possibly damaging	Het
Slf2	T	A	19: 44,940,523 (GRCm39)	D773E	probably benign	Het
Slmap	A	C	14: 26,184,744 (GRCm39)	L272R	probably damaging	Het
Smyd5	T	C	6: 85,422,185 (GRCm39)		probably benign	Het
Snx21	G	T	2: 164,628,666 (GRCm39)	R103L	probably damaging	Het
Sphk2	T	A	7: 45,361,777 (GRCm39)		probably null	Het
Stab1	T	C	14: 30,867,812 (GRCm39)	K1653E	probably benign	Het
Syde1	A	G	10: 78,425,252 (GRCm39)	V253A	probably benign	Het
Sympk	G	T	7: 18,776,584 (GRCm39)	R492L	probably benign	Het
Taar7f	T	C	10: 23,925,451 (GRCm39)	I15T	probably benign	Het
Tas2r140	A	G	6: 40,468,200 (GRCm39)	D10G	probably benign	Het
Tbcc	A	G	17: 47,202,600 (GRCm39)	S329G	probably benign	Het
Teddm3	G	A	16: 20,971,900 (GRCm39)	T223M	probably benign	Het
Tex14	G	T	11: 87,405,668 (GRCm39)	C860F	probably benign	Het
Thada	A	T	17: 84,751,896 (GRCm39)	L360Q	probably damaging	Het
Thop1	C	A	10: 80,916,412 (GRCm39)	H473Q	probably damaging	Het
Tln2	T	C	9: 67,163,310 (GRCm39)	D1075G	probably benign	Het
Tmem130	G	A	5: 144,680,528 (GRCm39)	T292I	probably benign	Het
Tmem198b	T	C	10: 128,637,305 (GRCm39)	N278S	probably benign	Het
Ttc21a	A	T	9: 119,771,731 (GRCm39)	T177S	probably benign	Het
Ubr2	A	T	17: 47,280,173 (GRCm39)	C659S	probably damaging	Het
Vmn2r4	T	C	3: 64,298,373 (GRCm39)	K585R	probably benign	Het
Vmn2r86	A	G	10: 130,282,456 (GRCm39)	I720T	probably damaging	Het
Wdr35	G	T	12: 9,037,327 (GRCm39)	W311L	probably damaging	Het
Zfp39	A	T	11: 58,782,028 (GRCm39)	F245I	possibly damaging	Het
Zftraf1	A	T	15: 76,530,512 (GRCm39)	F269L	probably benign	Het
Zmym5	G	A	14: 57,034,236 (GRCm39)	T325I	probably benign	Het
Zng1	A	T	19: 24,898,383 (GRCm39)		probably null	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
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
R8083:Nt5dc2	UTSW	14	30,856,783 (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'- CCTATTCAACGCCCAGTTCG -3'
(R):5'- CCTCTCTGCAGGATTCAGTC -3'

Sequencing Primer
(F):5'- CAGTTCGGGAGCATCTTCC -3'
(R):5'- TCCTGGAGGAGGACTTCCC -3'

Posted On

2016-06-06