Incidental Mutation 'IGL01736:Nr2f2'
ID105715
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 #IGL01736
Quality Score
Status
Chromosome7
Chromosomal Location70351944-70366735 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70354698 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 269 (S269P)
Ref Sequence ENSEMBL: ENSMUSP00000086993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032768] [ENSMUST00000089565] [ENSMUST00000208081]
Predicted Effect probably damaging
Transcript: ENSMUST00000032768
AA Change: S402P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: S402P

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: S269P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: S269P

DomainStartEndE-ValueType
HOLI 81 241 5.2e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207153
Predicted Effect probably benign
Transcript: ENSMUST00000208081
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,188,442 T290A possibly damaging Het
Apip G A 2: 103,087,141 V62M probably damaging Het
Appbp2 T C 11: 85,214,317 K141R possibly damaging Het
Arhgef18 T A 8: 3,451,624 probably benign Het
B3galt2 A G 1: 143,646,845 T240A probably benign Het
Bivm A T 1: 44,141,813 N385I probably damaging Het
Brd4 A T 17: 32,198,675 probably benign Het
Cage1 T C 13: 38,022,813 D352G possibly damaging Het
Ceacam10 A G 7: 24,781,110 Y102C probably damaging Het
Diaph3 T C 14: 86,918,846 D677G probably benign Het
Dis3l T C 9: 64,319,254 probably null Het
Dnah6 C T 6: 73,188,377 V582M probably benign Het
Fndc3b A G 3: 27,467,403 L541P probably damaging Het
Folh1 T C 7: 86,742,236 T384A possibly damaging Het
Gdpd3 T C 7: 126,766,523 L18P probably damaging Het
Grxcr2 T A 18: 41,998,982 K7N probably damaging Het
Gulo A G 14: 65,996,876 F246L probably benign Het
Inpp4b A T 8: 81,997,339 D500V probably benign Het
Ints4 C T 7: 97,526,642 L647F probably benign Het
Kif17 T A 4: 138,286,565 L264Q possibly damaging Het
Kif21a T C 15: 90,959,745 N1104S possibly damaging Het
Ly6e T G 15: 74,958,697 L132R probably benign Het
Mis18bp1 T A 12: 65,138,678 H905L probably damaging Het
Olfr1176 T A 2: 88,340,427 N287K probably damaging Het
Olfr1360 C A 13: 21,674,617 C109F probably benign Het
Olfr1394 G A 11: 49,160,527 C171Y probably damaging Het
Pde8b T C 13: 95,030,402 I757V probably damaging Het
Psg23 A T 7: 18,612,197 I191N possibly damaging Het
Slc12a4 A T 8: 105,945,843 probably null Het
Snph A T 2: 151,594,173 Y209* probably null Het
Tnfaip3 T C 10: 19,006,901 H256R probably damaging Het
Tnip3 T A 6: 65,596,123 probably benign Het
Ttc3 T A 16: 94,442,527 F1130Y probably damaging Het
Twnk T G 19: 45,010,188 V515G probably damaging Het
Usp24 T A 4: 106,423,461 I2324K probably benign Het
Vwa7 T C 17: 35,019,851 F305S probably damaging Het
Ythdc2 A T 18: 44,850,668 Q567L probably damaging Het
Zbtb11 T A 16: 55,998,160 I649K probably damaging Het
Zbtb49 T C 5: 38,200,860 Y683C probably damaging Het
Zfhx4 A T 3: 5,244,092 M793L possibly damaging Het
Zmym6 T G 4: 127,108,644 I556R probably damaging Het
Zswim8 C T 14: 20,714,712 P717S probably benign Het
Other mutations in Nr2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Nr2f2 APN 7 70357766 missense possibly damaging 0.88
IGL02667:Nr2f2 APN 7 70357985 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 On2014-01-21