Incidental Mutation 'R7305:Nr2f1'
ID 567265
Institutional Source Beutler Lab
Gene Symbol Nr2f1
Ensembl Gene ENSMUSG00000069171
Gene Name nuclear receptor subfamily 2, group F, member 1
Synonyms Tcfcoup1, COUP-TF1, COUP-TFI, Erbal3
MMRRC Submission 045407-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7305 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 78337090-78346954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78343298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 322 (I322T)
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: I322T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089036
Gene: ENSMUSG00000069171
AA Change: I322T

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 probably damaging
Transcript: ENSMUST00000125176
AA Change: I175T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122618
Gene: ENSMUSG00000069171
AA Change: I175T

DomainStartEndE-ValueType
HOLI 71 231 5.16e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127137
AA Change: I165T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133704
Gene: ENSMUSG00000069171
AA Change: I165T

DomainStartEndE-ValueType
HOLI 61 221 5.16e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150498
AA Change: I165T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118161
Gene: ENSMUSG00000069171
AA Change: I165T

DomainStartEndE-ValueType
HOLI 61 221 5.16e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224798
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A T 2: 181,135,209 (GRCm39) D37V possibly damaging Het
Ankhd1 A G 18: 36,765,258 (GRCm39) D87G Het
Ankrd31 A G 13: 97,015,479 (GRCm39) S1583G probably damaging Het
Ankub1 T C 3: 57,599,938 (GRCm39) probably benign Het
Apba3 A G 10: 81,107,067 (GRCm39) D264G probably damaging Het
Armh3 A T 19: 45,880,560 (GRCm39) M508K probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cnot3 A T 7: 3,648,479 (GRCm39) probably benign Het
Cxxc1 A G 18: 74,352,467 (GRCm39) Y349C probably benign Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Cyp3a57 A G 5: 145,307,795 (GRCm39) I184V probably benign Het
D130052B06Rik GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG GTCTACACTGTCCTG 11: 33,573,355 (GRCm39) probably null Het
Dab1 T A 4: 104,570,987 (GRCm39) D210E Het
Elavl1 G A 8: 4,375,199 (GRCm39) probably benign Het
Emilin1 C T 5: 31,074,433 (GRCm39) Q225* probably null Het
Eml6 G T 11: 29,727,258 (GRCm39) A1288E probably benign Het
Eno1 T C 4: 150,329,796 (GRCm39) probably null Het
Eprs1 C T 1: 185,111,898 (GRCm39) R303C probably damaging Het
Eps15l1 G A 8: 73,126,878 (GRCm39) A651V probably benign Het
Etl4 A T 2: 20,714,368 (GRCm39) I156F probably damaging Het
Faim2 A T 15: 99,411,814 (GRCm39) I171N probably damaging Het
Fam135a T A 1: 24,069,939 (GRCm39) N381I probably damaging Het
Fhip1a G T 3: 85,637,831 (GRCm39) P156Q probably damaging Het
Gabrg3 T A 7: 56,384,833 (GRCm39) M243L probably benign Het
Garin2 A G 12: 78,761,809 (GRCm39) K158E possibly damaging Het
Gm5134 A G 10: 75,836,233 (GRCm39) I405V probably damaging Het
Gm9376 A T 14: 118,504,768 (GRCm39) K67* probably null Het
Grm8 A T 6: 27,761,354 (GRCm39) I290K possibly damaging Het
Hao1 T A 2: 134,390,121 (GRCm39) M73L probably benign Het
Herc1 A G 9: 66,369,150 (GRCm39) D452G Het
Idh3b C A 2: 130,123,413 (GRCm39) K192N possibly damaging Het
Igkv6-23 A G 6: 70,237,553 (GRCm39) S63P probably benign Het
Itgb2 A C 10: 77,384,398 (GRCm39) D173A probably damaging Het
Jmjd8 A T 17: 26,049,301 (GRCm39) T255S probably benign Het
Lamc3 A C 2: 31,820,714 (GRCm39) E1243A probably benign Het
Map1a A G 2: 121,129,939 (GRCm39) T252A probably damaging Het
Mrgpra1 C A 7: 46,985,203 (GRCm39) A159S probably benign Het
Ndst3 T C 3: 123,395,131 (GRCm39) I500V possibly damaging Het
Nhsl1 A G 10: 18,407,434 (GRCm39) T1523A possibly damaging Het
Nup210 T C 6: 91,064,948 (GRCm39) E184G probably damaging Het
Obsl1 C T 1: 75,470,590 (GRCm39) W1022* probably null Het
Or2l13 T A 16: 19,306,449 (GRCm39) I287N probably damaging Het
Or4a77 T A 2: 89,486,846 (GRCm39) H313L probably benign Het
Or52p2 G T 7: 102,237,162 (GRCm39) Q263K possibly damaging Het
Or5p51 A T 7: 107,444,572 (GRCm39) Y123N probably damaging Het
Or6c1 A T 10: 129,518,149 (GRCm39) I153N probably damaging Het
Or6c65 T A 10: 129,603,720 (GRCm39) Y118* probably null Het
Otulinl A G 15: 27,658,319 (GRCm39) C184R probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Parp8 A G 13: 117,031,461 (GRCm39) L417P possibly damaging Het
Pdia6 A G 12: 17,324,509 (GRCm39) Q120R probably benign Het
Ppp3cc T C 14: 70,478,252 (GRCm39) N290S probably benign Het
Prdm5 C A 6: 65,808,244 (GRCm39) S63R possibly damaging Het
Prr14l T C 5: 32,988,445 (GRCm39) D350G probably benign Het
Pwwp2a T C 11: 43,607,878 (GRCm39) L497S probably damaging Het
R3hdm2 A G 10: 127,312,547 (GRCm39) N430D probably benign Het
Rad51ap2 A G 12: 11,507,344 (GRCm39) N422S possibly damaging Het
Rbbp8 G A 18: 11,805,638 (GRCm39) probably null Het
Rsf1 GGCGGCGGC GGCGGCGGCAGCGGCGGC 7: 97,229,125 (GRCm39) probably benign Het
Slc22a6 G A 19: 8,599,522 (GRCm39) probably null Het
Slc28a3 T A 13: 58,714,045 (GRCm39) E440V possibly damaging Het
Slc30a5 A T 13: 100,947,932 (GRCm39) I482K probably damaging Het
Slco1a1 A T 6: 141,870,223 (GRCm39) F305Y probably damaging Het
Slco1a8 G A 6: 141,938,220 (GRCm39) A253V probably damaging Het
Slco4c1 T C 1: 96,756,690 (GRCm39) N544S probably damaging Het
Smpd4 T A 16: 17,459,647 (GRCm39) I656N probably damaging Het
Spata31h1 A T 10: 82,120,953 (GRCm39) I4019K probably benign Het
Taok1 A T 11: 77,432,500 (GRCm39) L771* probably null Het
Tmem231 T C 8: 112,641,927 (GRCm39) D209G possibly damaging Het
Tmem25 A G 9: 44,706,705 (GRCm39) probably null Het
Tmem79 T C 3: 88,240,718 (GRCm39) T77A probably benign Het
Topbp1 A T 9: 103,205,836 (GRCm39) T825S probably damaging Het
Trpm6 A T 19: 18,853,455 (GRCm39) Q1825L probably benign Het
Uba1y T A Y: 821,348 (GRCm39) D110E probably damaging Het
Utrn A T 10: 12,261,280 (GRCm39) N3422K probably benign Het
Vmn1r219 A T 13: 23,347,314 (GRCm39) M168L probably benign Het
Vmn2r62 T C 7: 42,414,235 (GRCm39) H736R possibly damaging Het
Wdr1 T C 5: 38,697,435 (GRCm39) H291R possibly damaging Het
Zan T C 5: 137,413,401 (GRCm39) T3177A unknown Het
Zbtb21 T C 16: 97,752,495 (GRCm39) H596R possibly damaging Het
Other mutations in Nr2f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Nr2f1 APN 13 78,337,952 (GRCm39) missense probably damaging 1.00
IGL00553:Nr2f1 APN 13 78,346,361 (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
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
Predicted Primers PCR Primer
(F):5'- AGACGATCCACAATGCCCTG -3'
(R):5'- ATCGAGAACATCTGCGAGC -3'

Sequencing Primer
(F):5'- TACGCTCCCAAGATGGCAG -3'
(R):5'- AGATCACGGACCAGGTGTCTC -3'
Posted On 2019-06-26