Incidental Mutation 'IGL02667:Nr2f2'
ID302766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr2f2
Ensembl Gene ENSMUSG00000030551
Gene Namenuclear receptor subfamily 2, group F, member 2
SynonymsTcfcoup2, COUP-TFII, COUP-TF2, ARP-1, EAR3, 9430015G03Rik, Aporp1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02667
Quality Score
Status
Chromosome7
Chromosomal Location70351944-70366735 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70357985 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 117 (S117G)
Ref Sequence ENSEMBL: ENSMUSP00000086993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032768] [ENSMUST00000089565] [ENSMUST00000208081]
Predicted Effect probably damaging
Transcript: ENSMUST00000032768
AA Change: S250G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: S250G

DomainStartEndE-ValueType
low complexity region 21 75 N/A INTRINSIC
ZnF_C4 76 147 4.57e-39 SMART
HOLI 214 374 1.29e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000089565
AA Change: S117G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: S117G

DomainStartEndE-ValueType
HOLI 81 241 5.2e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207153
Predicted Effect probably benign
Transcript: ENSMUST00000208081
AA Change: S97G

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208681
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired angiogenesis and heart development with hemorrhagic brains and hearts, and die around embryonic day 10. About 5% of heterozygotes share the hemorrhagic phenotype at embryonic day 9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6530409C15Rik A G 6: 28,217,671 noncoding transcript Het
Akr1e1 G A 13: 4,595,667 P174L possibly damaging Het
Arf5 C A 6: 28,425,199 N95K probably damaging Het
Atl3 T C 19: 7,509,416 F39L possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cyp2a12 T C 7: 27,031,158 S183P probably damaging Het
Dicer1 T A 12: 104,714,906 R449S probably damaging Het
Dlec1 T C 9: 119,127,466 I736T probably benign Het
Eny2 T A 15: 44,429,588 M12K possibly damaging Het
Fbxl21 C T 13: 56,537,129 R349C probably benign Het
Gstm2 A G 3: 107,986,108 L13P probably damaging Het
Gucy2g G A 19: 55,206,177 T936M possibly damaging Het
Mbp G T 18: 82,554,615 K12N probably damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myo18a A G 11: 77,857,852 probably benign Het
Pi4k2b T C 5: 52,750,605 probably benign Het
Pi4ka A G 16: 17,295,461 F1504L possibly damaging Het
Ppm1d T C 11: 85,332,285 W239R probably damaging Het
Setd1b T A 5: 123,157,497 S1043T unknown Het
Tgfbrap1 T C 1: 43,067,620 I298V probably benign Het
Tmem190 T A 7: 4,783,158 D20E probably benign Het
Tph2 A T 10: 115,080,045 C408S probably benign Het
Trmt44 A C 5: 35,571,052 Y295D probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubn1 A G 16: 5,062,599 E134G probably damaging Het
Zcchc11 T C 4: 108,558,708 probably benign Het
Other mutations in Nr2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Nr2f2 APN 7 70357766 missense possibly damaging 0.88
IGL01736:Nr2f2 APN 7 70354698 missense probably damaging 1.00
R0149:Nr2f2 UTSW 7 70358062 missense possibly damaging 0.90
R0206:Nr2f2 UTSW 7 70360175 missense probably damaging 0.98
R0207:Nr2f2 UTSW 7 70360175 missense probably damaging 0.98
R0240:Nr2f2 UTSW 7 70360175 missense probably damaging 0.98
R0243:Nr2f2 UTSW 7 70360175 missense probably damaging 0.98
R0361:Nr2f2 UTSW 7 70358062 missense possibly damaging 0.90
R0540:Nr2f2 UTSW 7 70354712 missense probably damaging 1.00
R0607:Nr2f2 UTSW 7 70354712 missense probably damaging 1.00
R0741:Nr2f2 UTSW 7 70357997 missense probably damaging 1.00
R1894:Nr2f2 UTSW 7 70354671 missense probably benign 0.00
R1961:Nr2f2 UTSW 7 70358155 missense possibly damaging 0.80
R3033:Nr2f2 UTSW 7 70358062 missense possibly damaging 0.90
R3754:Nr2f2 UTSW 7 70358021 missense probably benign 0.01
R4517:Nr2f2 UTSW 7 70358122 missense probably benign 0.21
R6175:Nr2f2 UTSW 7 70358198 missense probably damaging 1.00
R6226:Nr2f2 UTSW 7 70359996 missense probably benign 0.00
Posted On2015-04-16