Incidental Mutation 'IGL00553:Nr2f1'
ID 4281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr2f1
Ensembl Gene ENSMUSG00000069171
Gene Name nuclear receptor subfamily 2, group F, member 1
Synonyms Tcfcoup1, COUP-TF1, COUP-TFI, Erbal3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00553
Quality Score
Status
Chromosome 13
Chromosomal Location 78337090-78346954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78346361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 111 (V111A)
Ref Sequence ENSEMBL: ENSMUSP00000089036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091458] [ENSMUST00000125176] [ENSMUST00000127137] [ENSMUST00000150498] [ENSMUST00000224798]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000091458
AA Change: V111A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089036
Gene: ENSMUSG00000069171
AA Change: V111A

DomainStartEndE-ValueType
low complexity region 16 65 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
ZnF_C4 80 151 3.01e-39 SMART
HOLI 218 378 5.16e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123998
Predicted Effect probably benign
Transcript: ENSMUST00000125176
SMART Domains Protein: ENSMUSP00000122618
Gene: ENSMUSG00000069171

DomainStartEndE-ValueType
HOLI 71 231 5.16e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127137
SMART Domains Protein: ENSMUSP00000133704
Gene: ENSMUSG00000069171

DomainStartEndE-ValueType
HOLI 61 221 5.16e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137199
Predicted Effect probably benign
Transcript: ENSMUST00000150498
SMART Domains Protein: ENSMUSP00000118161
Gene: ENSMUSG00000069171

DomainStartEndE-ValueType
HOLI 61 221 5.16e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224798
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygotes for a null allele die perinatally with axon guidance defects in all forebrain commissures. Homozygotes for another null allele show neonatal death, impaired cranial ganglion IX formation and axon guidance, increased cochlear HC and support cell number, and altered cortex regionalization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr A G 15: 89,457,453 (GRCm39) I234V probably benign Het
Arid4a T C 12: 71,122,751 (GRCm39) L1044P probably benign Het
Bcl9 A T 3: 97,114,518 (GRCm39) D1035E probably damaging Het
Bptf G A 11: 106,946,105 (GRCm39) T2263I possibly damaging Het
Eprs1 G T 1: 185,139,345 (GRCm39) C910F probably benign Het
Glipr1 T C 10: 111,822,574 (GRCm39) N47S possibly damaging Het
Ifi35 A G 11: 101,348,152 (GRCm39) E86G probably damaging Het
Mx1 T A 16: 97,258,632 (GRCm39) I22F probably damaging Het
Pdgfrb A T 18: 61,202,008 (GRCm39) E524V probably benign Het
Rspo3 A G 10: 29,330,148 (GRCm39) probably benign Het
Setdb2 C T 14: 59,653,241 (GRCm39) V354M probably damaging Het
Slc28a3 A G 13: 58,710,823 (GRCm39) probably null Het
Stau1 T C 2: 166,793,254 (GRCm39) K294E possibly damaging Het
Susd3 A T 13: 49,384,614 (GRCm39) *270R probably null Het
Ttc39b T C 4: 83,162,276 (GRCm39) probably benign Het
Usf1 T C 1: 171,244,843 (GRCm39) V169A probably damaging Het
Usp8 T C 2: 126,600,480 (GRCm39) L1077P probably damaging Het
Vsnl1 A G 12: 11,382,190 (GRCm39) F64L probably damaging Het
Zmiz1 T A 14: 25,572,494 (GRCm39) M1K probably null Het
Other mutations in Nr2f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Nr2f1 APN 13 78,337,952 (GRCm39) missense probably damaging 1.00
IGL00821:Nr2f1 APN 13 78,346,233 (GRCm39) unclassified probably benign
IGL02346:Nr2f1 APN 13 78,343,527 (GRCm39) missense probably damaging 1.00
IGL02586:Nr2f1 APN 13 78,343,275 (GRCm39) unclassified probably benign
IGL02587:Nr2f1 APN 13 78,343,275 (GRCm39) unclassified probably benign
IGL02588:Nr2f1 APN 13 78,343,275 (GRCm39) unclassified probably benign
R1470:Nr2f1 UTSW 13 78,346,284 (GRCm39) missense possibly damaging 0.94
R1470:Nr2f1 UTSW 13 78,346,284 (GRCm39) missense possibly damaging 0.94
R1865:Nr2f1 UTSW 13 78,338,045 (GRCm39) missense probably damaging 1.00
R1959:Nr2f1 UTSW 13 78,337,935 (GRCm39) missense probably damaging 1.00
R2284:Nr2f1 UTSW 13 78,343,581 (GRCm39) missense probably damaging 1.00
R3861:Nr2f1 UTSW 13 78,343,794 (GRCm39) nonsense probably null
R4542:Nr2f1 UTSW 13 78,337,940 (GRCm39) missense probably damaging 1.00
R6248:Nr2f1 UTSW 13 78,344,611 (GRCm39) intron probably benign
R6285:Nr2f1 UTSW 13 78,343,782 (GRCm39) missense probably benign 0.01
R7305:Nr2f1 UTSW 13 78,343,298 (GRCm39) missense probably damaging 1.00
R7496:Nr2f1 UTSW 13 78,343,361 (GRCm39) missense probably damaging 1.00
R7653:Nr2f1 UTSW 13 78,343,716 (GRCm39) missense probably benign 0.32
R7884:Nr2f1 UTSW 13 78,337,988 (GRCm39) missense probably benign 0.03
R7954:Nr2f1 UTSW 13 78,338,113 (GRCm39) missense probably damaging 1.00
R8030:Nr2f1 UTSW 13 78,343,565 (GRCm39) missense probably benign 0.36
R8875:Nr2f1 UTSW 13 78,337,970 (GRCm39) missense probably damaging 1.00
R8959:Nr2f1 UTSW 13 78,337,873 (GRCm39) nonsense probably null
R9115:Nr2f1 UTSW 13 78,337,869 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20