Incidental Mutation 'R8865:Foxp2'
ID 675861
Institutional Source Beutler Lab
Gene Symbol Foxp2
Ensembl Gene ENSMUSG00000029563
Gene Name forkhead box P2
Synonyms D0Kist7, 2810043D05Rik
MMRRC Submission 068681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8865 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 14901348-15441976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15415093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 609 (A609V)
Ref Sequence ENSEMBL: ENSMUSP00000111137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031545] [ENSMUST00000115472] [ENSMUST00000115474] [ENSMUST00000115475] [ENSMUST00000115477]
AlphaFold P58463
Predicted Effect unknown
Transcript: ENSMUST00000031545
AA Change: A609V
SMART Domains Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: A609V

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 unknown
Transcript: ENSMUST00000115472
AA Change: A588V
SMART Domains Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: A588V

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 damaging
Transcript: ENSMUST00000115474
AA Change: A634V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: A634V

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: ENSMUST00000115475
SMART Domains Protein: ENSMUSP00000111135
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 8 46 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000115477
AA Change: A609V
SMART Domains Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: A609V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (72/72)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,672,571 (GRCm39) Y606* probably null Het
Adgrb1 A G 15: 74,415,507 (GRCm39) I696V possibly damaging Het
Ass1 A G 2: 31,410,407 (GRCm39) Q406R probably benign Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Ccdc148 T C 2: 58,719,832 (GRCm39) K409R possibly damaging Het
Ccnl1 A T 3: 65,854,269 (GRCm39) S451T probably benign Het
Cdc123 T C 2: 5,800,235 (GRCm39) probably benign Het
Cep192 T C 18: 67,967,703 (GRCm39) V729A probably benign Het
Chd6 G A 2: 160,862,989 (GRCm39) A444V probably benign Het
Chl1 A G 6: 103,685,822 (GRCm39) K898E probably damaging Het
Chrng T C 1: 87,135,219 (GRCm39) V154A probably damaging Het
Cog1 T G 11: 113,549,324 (GRCm39) M799R probably benign Het
Col4a3 G A 1: 82,647,483 (GRCm39) probably null Het
Coro6 C A 11: 77,359,917 (GRCm39) T366K probably damaging Het
Cwh43 G A 5: 73,598,702 (GRCm39) M640I probably benign Het
Cyp2c55 A G 19: 39,019,878 (GRCm39) E272G probably benign Het
Cyp4f39 A G 17: 32,702,271 (GRCm39) Y256C probably damaging Het
Dbx2 G A 15: 95,530,281 (GRCm39) R229* probably null Het
Dcdc2a C T 13: 25,386,266 (GRCm39) A380V probably benign Het
En1 G T 1: 120,530,729 (GRCm39) probably benign Het
F3 T A 3: 121,523,060 (GRCm39) V90E probably damaging Het
Fam171a1 A G 2: 3,226,940 (GRCm39) K691R probably damaging Het
Hemgn A T 4: 46,396,682 (GRCm39) S185T possibly damaging Het
Hk1 C T 10: 62,151,294 (GRCm39) D33N probably benign Het
Igfbp1 T A 11: 7,151,929 (GRCm39) V244D probably damaging Het
Insr A T 8: 3,211,358 (GRCm39) D1160E probably damaging Het
Irs1 A T 1: 82,265,830 (GRCm39) Y795* probably null Het
Krtap28-10 T C 1: 83,019,808 (GRCm39) K111E unknown Het
Lbx1 T G 19: 45,223,605 (GRCm39) D21A probably benign Het
Map6 G T 7: 98,918,192 (GRCm39) A322S probably benign Het
Mat1a T C 14: 40,843,788 (GRCm39) Y336H probably damaging Het
Mcf2l A G 8: 12,930,003 (GRCm39) I8V probably benign Het
Med12l T C 3: 58,979,303 (GRCm39) V276A probably benign Het
Mettl17 A G 14: 52,122,308 (GRCm39) probably benign Het
Mllt1 T C 17: 57,207,295 (GRCm39) D183G possibly damaging Het
Msmb T A 14: 31,872,217 (GRCm39) C69* probably null Het
Mterf1a A G 5: 3,941,425 (GRCm39) S148P probably damaging Het
Mybl2 A G 2: 162,922,653 (GRCm39) I583V probably benign Het
Nbr1 T A 11: 101,455,520 (GRCm39) D91E probably benign Het
Notch3 A G 17: 32,341,090 (GRCm39) Y2221H probably benign Het
Npat C A 9: 53,481,940 (GRCm39) T1216N probably benign Het
Or14j6 T C 17: 38,215,115 (GRCm39) L226P probably damaging Het
Or2j3 T A 17: 38,615,872 (GRCm39) H160L probably damaging Het
Or8k35 C A 2: 86,424,744 (GRCm39) V143F possibly damaging Het
Pawr T A 10: 108,218,603 (GRCm39) Y170N probably damaging Het
Pde12 T C 14: 26,390,280 (GRCm39) D143G possibly damaging Het
Phactr2 A G 10: 13,129,476 (GRCm39) I264T probably benign Het
Pip5k1b A G 19: 24,374,422 (GRCm39) L53P probably damaging Het
Pknox1 T C 17: 31,818,520 (GRCm39) I251T probably benign Het
Plcxd1 A T 5: 110,249,841 (GRCm39) probably benign Het
Polr3c C T 3: 96,622,517 (GRCm39) probably benign Het
Pramel4 G C 4: 143,795,052 (GRCm39) G483R probably damaging Het
Prdm10 T C 9: 31,238,693 (GRCm39) L195P probably damaging Het
Prss16 A T 13: 22,187,175 (GRCm39) L465Q possibly damaging Het
Psg25 G T 7: 18,263,519 (GRCm39) H101Q possibly damaging Het
Pstpip2 A G 18: 77,934,108 (GRCm39) D55G possibly damaging Het
Rfc1 A T 5: 65,436,135 (GRCm39) D636E possibly damaging Het
Scarf2 G T 16: 17,620,974 (GRCm39) C214F probably damaging Het
Sirt4 T C 5: 115,620,704 (GRCm39) E156G probably damaging Het
Spag6 C T 2: 18,738,928 (GRCm39) S286L probably benign Het
Stx17 T A 4: 48,183,444 (GRCm39) H267Q unknown Het
Tekt3 T C 11: 62,961,058 (GRCm39) C76R probably benign Het
Tln1 A T 4: 43,538,281 (GRCm39) V1807E possibly damaging Het
Tnfrsf21 A G 17: 43,396,372 (GRCm39) D552G probably damaging Het
Ttn C A 2: 76,560,664 (GRCm39) V29246L possibly damaging Het
Usp43 C A 11: 67,789,788 (GRCm39) C252F probably damaging Het
Vmn2r16 T C 5: 109,487,910 (GRCm39) I261T probably benign Het
Vwa5b1 T C 4: 138,308,530 (GRCm39) E769G probably benign Het
Xrn1 T A 9: 95,873,246 (GRCm39) F670Y probably benign Het
Ypel1 T C 16: 16,915,269 (GRCm39) N113S probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zdhhc14 A T 17: 5,775,570 (GRCm39) Y274F possibly damaging Het
Zeb2 T A 2: 44,886,139 (GRCm39) M973L probably benign Het
Zfp638 T C 6: 83,954,035 (GRCm39) V1380A possibly damaging 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
R0659: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
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'- TGAGTTACTGCCACACCCAC -3'
(R):5'- GTGAATGAGAATCAGTGCTTTCC -3'

Sequencing Primer
(F):5'- GAGTTACTGCCACACCCACCATAG -3'
(R):5'- GTGCTTTCCACAGTACTAGGTAC -3'
Posted On 2021-07-15