Incidental Mutation 'R0659:Foxp2'
ID 61780
Institutional Source Beutler Lab
Gene Symbol Foxp2
Ensembl Gene ENSMUSG00000029563
Gene Name forkhead box P2
Synonyms D0Kist7, 2810043D05Rik
MMRRC Submission 038844-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0659 (G1)
Quality Score 87
Status Validated
Chromosome 6
Chromosomal Location 14901348-15441976 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 15254278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031545] [ENSMUST00000115469] [ENSMUST00000115472] [ENSMUST00000115474] [ENSMUST00000115477] [ENSMUST00000128567] [ENSMUST00000137628] [ENSMUST00000140557] [ENSMUST00000131414]
AlphaFold P58463
Predicted Effect probably benign
Transcript: ENSMUST00000031545
SMART Domains Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
coiled coil region 140 215 N/A INTRINSIC
low complexity region 291 304 N/A INTRINSIC
ZnF_C2H2 345 370 3.02e0 SMART
low complexity region 437 458 N/A INTRINSIC
FH 501 582 7.5e-37 SMART
low complexity region 605 624 N/A INTRINSIC
low complexity region 697 714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115469
SMART Domains Protein: ENSMUSP00000111129
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 29 41 N/A INTRINSIC
low complexity region 48 68 N/A INTRINSIC
coiled coil region 139 214 N/A INTRINSIC
low complexity region 290 303 N/A INTRINSIC
ZnF_C2H2 344 369 3.02e0 SMART
low complexity region 411 420 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115472
SMART Domains Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
coiled coil region 116 194 N/A INTRINSIC
low complexity region 270 283 N/A INTRINSIC
ZnF_C2H2 324 349 3.02e0 SMART
low complexity region 416 437 N/A INTRINSIC
FH 480 561 7.5e-37 SMART
low complexity region 584 603 N/A INTRINSIC
low complexity region 676 693 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115474
SMART Domains Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
coiled coil region 165 240 N/A INTRINSIC
low complexity region 316 329 N/A INTRINSIC
ZnF_C2H2 370 395 3.02e0 SMART
low complexity region 462 483 N/A INTRINSIC
FH 526 607 7.5e-37 SMART
low complexity region 630 649 N/A INTRINSIC
low complexity region 722 739 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115477
SMART Domains Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
coiled coil region 140 215 N/A INTRINSIC
low complexity region 291 304 N/A INTRINSIC
ZnF_C2H2 345 370 3.02e0 SMART
low complexity region 437 458 N/A INTRINSIC
FH 501 582 7.5e-37 SMART
low complexity region 605 624 N/A INTRINSIC
low complexity region 697 714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118133
SMART Domains Protein: ENSMUSP00000113163
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151301
SMART Domains Protein: ENSMUSP00000114735
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 29 41 N/A INTRINSIC
low complexity region 48 68 N/A INTRINSIC
coiled coil region 139 214 N/A INTRINSIC
low complexity region 290 303 N/A INTRINSIC
Blast:ZnF_C2H2 344 363 8e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128567
SMART Domains Protein: ENSMUSP00000123067
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137628
SMART Domains Protein: ENSMUSP00000116650
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 95 N/A INTRINSIC
low complexity region 146 159 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140557
SMART Domains Protein: ENSMUSP00000121503
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 95 133 N/A INTRINSIC
coiled coil region 146 221 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131414
SMART Domains Protein: ENSMUSP00000123007
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
coiled coil region 165 240 N/A INTRINSIC
low complexity region 316 329 N/A INTRINSIC
ZnF_C2H2 370 395 3.02e0 SMART
low complexity region 437 446 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
MGI Phenotype PHENOTYPE: Homozygous null mice display postnatal lethality, growth retardation, reduced vocalization, prolonged external granule cell layer presence, abnormal Purkinje and radial glial cells, delayed eye opening and ear emergence, negative geotaxis, impaired righting response, and hypoactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,140,565 (GRCm39) probably benign Het
Ahnak A G 19: 8,992,366 (GRCm39) H4550R possibly damaging Het
Anxa6 A G 11: 54,874,173 (GRCm39) V591A probably damaging Het
Apol7c A G 15: 77,410,473 (GRCm39) S158P probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Cacna2d4 A G 6: 119,322,067 (GRCm39) probably benign Het
Cd109 T C 9: 78,587,452 (GRCm39) probably benign Het
Cep78 C T 19: 15,933,554 (GRCm39) V675M probably damaging Het
Ces4a T C 8: 105,871,554 (GRCm39) probably benign Het
Chpf A G 1: 75,454,367 (GRCm39) V137A probably damaging Het
Comp T C 8: 70,831,751 (GRCm39) S457P possibly damaging Het
Cth A G 3: 157,625,752 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,733,563 (GRCm39) L314P probably damaging Het
Ets1 C T 9: 32,649,589 (GRCm39) R309C probably damaging Het
Gm9875 T G 2: 13,562,995 (GRCm39) F108V unknown Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Greb1 T C 12: 16,730,213 (GRCm39) Y1738C probably damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Hdac5 A T 11: 102,086,850 (GRCm39) V70E probably damaging Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hsd17b3 T C 13: 64,221,750 (GRCm39) T92A possibly damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Lin28a T C 4: 133,735,410 (GRCm39) probably benign Het
Mapk6 T C 9: 75,305,244 (GRCm39) S58G probably damaging Het
Mmp21 G A 7: 133,279,396 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Mto1 C T 9: 78,378,072 (GRCm39) T638M probably damaging Het
Mto1 T A 9: 78,364,790 (GRCm39) I343N probably damaging Het
Myo18b T C 5: 112,908,193 (GRCm39) K2027E possibly damaging Het
Myo7a T C 7: 97,703,545 (GRCm39) probably benign Het
Nlrp9a T C 7: 26,256,703 (GRCm39) I107T probably damaging Het
Or5k17 C A 16: 58,746,772 (GRCm39) R54L possibly damaging Het
Or8g37 T G 9: 39,731,112 (GRCm39) M59R possibly damaging Het
Osbpl5 A G 7: 143,258,767 (GRCm39) S268P probably damaging Het
Pih1d1 T A 7: 44,809,399 (GRCm39) S289T probably benign Het
Pik3c2b A G 1: 132,998,938 (GRCm39) D353G probably damaging Het
Ppef2 A G 5: 92,378,368 (GRCm39) L609P probably damaging Het
Prune2 A T 19: 17,100,199 (GRCm39) D1901V probably damaging Het
Rdh9 T C 10: 127,612,444 (GRCm39) Y31H possibly damaging Het
Slc5a9 T A 4: 111,741,068 (GRCm39) Y526F possibly damaging Het
Slitrk5 A G 14: 111,918,121 (GRCm39) K582E probably benign Het
Sult1c2 A T 17: 54,138,806 (GRCm39) M257K probably damaging Het
Tasor2 T C 13: 3,624,448 (GRCm39) D1834G probably damaging Het
Tmem132d A G 5: 128,061,351 (GRCm39) I417T possibly damaging Het
Tmem229b T C 12: 79,011,908 (GRCm39) T8A probably benign Het
Tmem237 T C 1: 59,153,253 (GRCm39) I89M possibly damaging Het
Tnfrsf17 A T 16: 11,137,683 (GRCm39) D140V probably damaging Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Trio A G 15: 27,831,485 (GRCm39) L194P probably damaging Het
Vmn2r74 T C 7: 85,605,122 (GRCm39) probably benign Het
Vps13c T A 9: 67,828,217 (GRCm39) M1457K probably benign Het
Zfhx2 A G 14: 55,311,258 (GRCm39) C479R possibly damaging Het
Zfp420 T A 7: 29,574,964 (GRCm39) C395S probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zranb2 A G 3: 157,247,400 (GRCm39) S193G probably benign Het
Other mutations in Foxp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Foxp2 APN 6 15,403,818 (GRCm39) missense probably damaging 1.00
IGL01011:Foxp2 APN 6 15,438,018 (GRCm39) makesense probably null
IGL01412:Foxp2 APN 6 15,376,757 (GRCm39) intron probably benign
IGL01769:Foxp2 APN 6 15,409,834 (GRCm39) missense possibly damaging 0.92
IGL02578:Foxp2 APN 6 15,376,814 (GRCm39) intron probably benign
IGL03368:Foxp2 APN 6 15,394,717 (GRCm39) missense probably damaging 1.00
R0004:Foxp2 UTSW 6 15,197,095 (GRCm39) missense possibly damaging 0.68
R0081:Foxp2 UTSW 6 15,405,643 (GRCm39) critical splice donor site probably benign
R0095:Foxp2 UTSW 6 15,196,976 (GRCm39) missense probably damaging 1.00
R0233:Foxp2 UTSW 6 15,409,752 (GRCm39) missense probably damaging 1.00
R0294:Foxp2 UTSW 6 15,376,773 (GRCm39) intron probably benign
R0357:Foxp2 UTSW 6 15,409,839 (GRCm39) missense probably damaging 0.99
R0432:Foxp2 UTSW 6 15,254,278 (GRCm39) intron probably benign
R1381:Foxp2 UTSW 6 15,409,765 (GRCm39) missense possibly damaging 0.50
R1813:Foxp2 UTSW 6 15,379,767 (GRCm39) utr 3 prime probably benign
R1896:Foxp2 UTSW 6 15,379,767 (GRCm39) utr 3 prime probably benign
R2007:Foxp2 UTSW 6 15,396,818 (GRCm39) missense probably damaging 1.00
R2020:Foxp2 UTSW 6 15,324,643 (GRCm39) missense possibly damaging 0.73
R2167:Foxp2 UTSW 6 15,437,901 (GRCm39) missense probably damaging 1.00
R2326:Foxp2 UTSW 6 15,409,938 (GRCm39) missense possibly damaging 0.84
R3829:Foxp2 UTSW 6 15,379,830 (GRCm39) unclassified probably benign
R3978:Foxp2 UTSW 6 15,197,207 (GRCm39) unclassified probably benign
R4393:Foxp2 UTSW 6 15,377,689 (GRCm39) intron probably benign
R4703:Foxp2 UTSW 6 15,411,247 (GRCm39) missense probably benign 0.03
R5202:Foxp2 UTSW 6 15,394,770 (GRCm39) missense probably benign 0.05
R5303:Foxp2 UTSW 6 15,324,636 (GRCm39) missense probably benign 0.00
R5368:Foxp2 UTSW 6 15,377,913 (GRCm39) intron probably benign
R5533:Foxp2 UTSW 6 15,197,119 (GRCm39) nonsense probably null
R5655:Foxp2 UTSW 6 15,197,112 (GRCm39) missense probably damaging 0.99
R6220:Foxp2 UTSW 6 15,437,947 (GRCm39) missense probably damaging 1.00
R6241:Foxp2 UTSW 6 15,394,761 (GRCm39) missense probably damaging 1.00
R6365:Foxp2 UTSW 6 15,286,684 (GRCm39) missense probably damaging 1.00
R6384:Foxp2 UTSW 6 15,437,947 (GRCm39) missense probably damaging 1.00
R7217:Foxp2 UTSW 6 15,416,023 (GRCm39) missense unknown
R7553:Foxp2 UTSW 6 15,437,881 (GRCm39) missense unknown
R7881:Foxp2 UTSW 6 15,409,888 (GRCm39) missense unknown
R8420:Foxp2 UTSW 6 15,403,866 (GRCm39) missense unknown
R8865:Foxp2 UTSW 6 15,415,093 (GRCm39) missense unknown
R9147:Foxp2 UTSW 6 15,286,711 (GRCm39) missense possibly damaging 0.88
R9148:Foxp2 UTSW 6 15,286,711 (GRCm39) missense possibly damaging 0.88
R9290:Foxp2 UTSW 6 15,197,120 (GRCm39) missense possibly damaging 0.93
R9373:Foxp2 UTSW 6 15,377,969 (GRCm39) missense unknown
X0023:Foxp2 UTSW 6 15,409,834 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAATGTTCTgccatgcagtttc -3'
(R):5'- CCTCGATGGGAGTGCAATTTCACAA -3'

Sequencing Primer
(F):5'- CTCTTACGTCAAAAGAAACCATTTGC -3'
(R):5'- tctcaaacctgagctagagttag -3'
Posted On 2013-07-30