Incidental Mutation 'R4517:Nr2f2'
ID 332948
Institutional Source Beutler Lab
Gene Symbol Nr2f2
Ensembl Gene ENSMUSG00000030551
Gene Name nuclear receptor subfamily 2, group F, member 2
Synonyms COUP-TF2, EAR3, ARP-1, Tcfcoup2, 9430015G03Rik, COUP-TFII, Aporp1
MMRRC Submission 041761-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4517 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 70001692-70016483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70007870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 204 (N204T)
Ref Sequence ENSEMBL: ENSMUSP00000032768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032768] [ENSMUST00000089565] [ENSMUST00000208081]
AlphaFold P43135
Predicted Effect probably benign
Transcript: ENSMUST00000032768
AA Change: N204T

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032768
Gene: ENSMUSG00000030551
AA Change: N204T

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 benign
Transcript: ENSMUST00000089565
AA Change: N71T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000086993
Gene: ENSMUSG00000030551
AA Change: N71T

DomainStartEndE-ValueType
HOLI 81 241 5.2e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207153
Predicted Effect probably benign
Transcript: ENSMUST00000208081
AA Change: N51T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208681
Meta Mutation Damage Score 0.0953 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 95% (39/41)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank A G 15: 27,562,835 (GRCm39) H181R possibly damaging Het
B4galnt4 A G 7: 140,647,635 (GRCm39) K408E probably damaging Het
Cd209a T A 8: 3,795,525 (GRCm39) D123V probably damaging Het
Cyp4f37 A G 17: 32,850,566 (GRCm39) I340V probably benign Het
Echs1 A G 7: 139,692,409 (GRCm39) S113P possibly damaging Het
Fap T C 2: 62,361,059 (GRCm39) I391V probably benign Het
Glb1l C T 1: 75,185,347 (GRCm39) C121Y probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Ibsp C A 5: 104,453,863 (GRCm39) S67* probably null Het
Ifit1bl2 C T 19: 34,607,164 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,800,569 (GRCm39) probably null Het
Kcnma1 A G 14: 23,387,097 (GRCm39) S982P probably damaging Het
Kif5b T C 18: 6,213,272 (GRCm39) S707G probably benign Het
Lrrk2 A G 15: 91,589,323 (GRCm39) I437V probably benign Het
Mapkbp1 T C 2: 119,855,545 (GRCm39) probably benign Het
Mcu T C 10: 59,303,456 (GRCm39) Y127C probably damaging Het
Mlst8 T C 17: 24,695,031 (GRCm39) Y284C probably damaging Het
Or13a26 A G 7: 140,285,004 (GRCm39) Y280C probably damaging Het
Or7a42 T A 10: 78,791,877 (GRCm39) Y279* probably null Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcf11 T C 7: 92,295,696 (GRCm39) Y1451C probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Rttn T C 18: 89,047,097 (GRCm39) S920P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Tas2r135 A T 6: 42,383,013 (GRCm39) H184L probably benign Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r102 A G 17: 19,901,475 (GRCm39) Y534C probably damaging Het
Wdr62 A G 7: 29,969,683 (GRCm39) V259A probably damaging Het
Whrn A G 4: 63,379,517 (GRCm39) probably null Het
Other mutations in Nr2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Nr2f2 APN 7 70,007,514 (GRCm39) missense possibly damaging 0.88
IGL01736:Nr2f2 APN 7 70,004,446 (GRCm39) missense probably damaging 1.00
IGL02667:Nr2f2 APN 7 70,007,733 (GRCm39) missense probably damaging 1.00
R0149:Nr2f2 UTSW 7 70,007,810 (GRCm39) missense possibly damaging 0.90
R0206:Nr2f2 UTSW 7 70,009,923 (GRCm39) missense probably damaging 0.98
R0207:Nr2f2 UTSW 7 70,009,923 (GRCm39) missense probably damaging 0.98
R0240:Nr2f2 UTSW 7 70,009,923 (GRCm39) missense probably damaging 0.98
R0243:Nr2f2 UTSW 7 70,009,923 (GRCm39) missense probably damaging 0.98
R0361:Nr2f2 UTSW 7 70,007,810 (GRCm39) missense possibly damaging 0.90
R0540:Nr2f2 UTSW 7 70,004,460 (GRCm39) missense probably damaging 1.00
R0607:Nr2f2 UTSW 7 70,004,460 (GRCm39) missense probably damaging 1.00
R0741:Nr2f2 UTSW 7 70,007,745 (GRCm39) missense probably damaging 1.00
R1894:Nr2f2 UTSW 7 70,004,419 (GRCm39) missense probably benign 0.00
R1961:Nr2f2 UTSW 7 70,007,903 (GRCm39) missense possibly damaging 0.80
R3033:Nr2f2 UTSW 7 70,007,810 (GRCm39) missense possibly damaging 0.90
R3754:Nr2f2 UTSW 7 70,007,769 (GRCm39) missense probably benign 0.01
R6175:Nr2f2 UTSW 7 70,007,946 (GRCm39) missense probably damaging 1.00
R6226:Nr2f2 UTSW 7 70,009,744 (GRCm39) missense probably benign 0.00
R7544:Nr2f2 UTSW 7 70,004,499 (GRCm39) missense probably damaging 1.00
R7796:Nr2f2 UTSW 7 70,007,901 (GRCm39) missense probably benign 0.03
R7894:Nr2f2 UTSW 7 70,009,681 (GRCm39) missense probably damaging 1.00
R9377:Nr2f2 UTSW 7 70,007,856 (GRCm39) missense probably damaging 1.00
R9411:Nr2f2 UTSW 7 70,007,525 (GRCm39) missense
R9513:Nr2f2 UTSW 7 70,010,056 (GRCm39) missense probably damaging 0.98
Z1176:Nr2f2 UTSW 7 70,007,526 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGTGGTCCATAAAAGCGACC -3'
(R):5'- TCCTGCAGCTGTACAGAGAG -3'

Sequencing Primer
(F):5'- CTGACATGGGTGAAGCGTGC -3'
(R):5'- CTGTACAGAGAGGCAGGATGC -3'
Posted On 2015-08-18