Incidental Mutation 'R0081:Foxp2'
ID 19670
Institutional Source Beutler Lab
Gene Symbol Foxp2
Ensembl Gene ENSMUSG00000029563
Gene Name forkhead box P2
Synonyms D0Kist7, 2810043D05Rik
MMRRC Submission 038368-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0081 (G1)
Quality Score 216
Status Validated
Chromosome 6
Chromosomal Location 14901348-15441976 bp(+) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) T to C at 15405643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031545] [ENSMUST00000115469] [ENSMUST00000115472] [ENSMUST00000115474] [ENSMUST00000115475] [ENSMUST00000115477] [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 unknown
Transcript: ENSMUST00000115469
AA Change: V421A
SMART Domains Protein: ENSMUSP00000111129
Gene: ENSMUSG00000029563
AA Change: V421A

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: ENSMUST00000115475
SMART Domains Protein: ENSMUSP00000111135
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 8 46 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 unknown
Transcript: ENSMUST00000131414
AA Change: V447A
SMART Domains Protein: ENSMUSP00000123007
Gene: ENSMUSG00000029563
AA Change: V447A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175576
Meta Mutation Damage Score 0.1051 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.2%
  • 10x: 88.5%
  • 20x: 63.6%
Validation Efficiency 94% (159/169)
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
Adam5 T C 8: 25,271,703 (GRCm39) D485G probably damaging Het
Adamts19 T C 18: 59,036,137 (GRCm39) probably null Het
Adgrd1 A T 5: 129,255,146 (GRCm39) I598F probably damaging Het
Adh5 A G 3: 138,157,174 (GRCm39) D245G probably benign Het
Adra2b T C 2: 127,206,212 (GRCm39) V238A probably benign Het
Ank1 G A 8: 23,606,258 (GRCm39) V1188I possibly damaging Het
Asap1 C T 15: 63,971,413 (GRCm39) G905D probably damaging Het
AW554918 T C 18: 25,477,959 (GRCm39) V428A probably benign Het
Birc6 T A 17: 74,950,436 (GRCm39) S3226T probably benign Het
Cdh17 A T 4: 11,785,280 (GRCm39) probably benign Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Dcaf17 T A 2: 70,908,812 (GRCm39) probably benign Het
Dclre1a A G 19: 56,531,139 (GRCm39) F736L probably damaging Het
Ddx41 A T 13: 55,683,193 (GRCm39) H171Q possibly damaging Het
Dennd5b G T 6: 148,895,257 (GRCm39) Q1258K probably benign Het
Dock10 T C 1: 80,584,295 (GRCm39) D137G probably damaging Het
Dpyd G A 3: 118,737,904 (GRCm39) V482I probably benign Het
Erich6 A T 3: 58,543,547 (GRCm39) probably benign Het
Fam193b A G 13: 55,702,024 (GRCm39) probably benign Het
Frmd4a T C 2: 4,577,252 (GRCm39) probably null Het
Gas2l2 A G 11: 83,313,693 (GRCm39) S540P possibly damaging Het
Glis2 T C 16: 4,431,517 (GRCm39) V348A probably benign Het
Gm14443 C A 2: 175,011,729 (GRCm39) G239V probably damaging Het
Gpr158 T C 2: 21,831,528 (GRCm39) V876A probably damaging Het
H1f8 A G 6: 115,926,942 (GRCm39) E273G probably benign Het
Hadh C T 3: 131,029,285 (GRCm39) D245N probably damaging Het
Hk2 A T 6: 82,711,957 (GRCm39) probably benign Het
Ice1 A T 13: 70,767,163 (GRCm39) Y108* probably null Het
Il10ra T G 9: 45,167,247 (GRCm39) M435L probably benign Het
Inpp5k GT G 11: 75,521,973 (GRCm39) probably null Het
Kank4 G T 4: 98,666,567 (GRCm39) P627T probably benign Het
Kif16b A G 2: 142,549,346 (GRCm39) probably benign Het
Lipn A G 19: 34,054,376 (GRCm39) I205V probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myh1 T C 11: 67,106,683 (GRCm39) M1255T probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1d T G 11: 80,448,349 (GRCm39) K925N probably benign Het
Myoz1 T A 14: 20,699,622 (GRCm39) M239L probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nf1 C A 11: 79,344,805 (GRCm39) probably benign Het
Npepl1 C T 2: 173,957,879 (GRCm39) P239S probably damaging Het
Olfml1 A G 7: 107,170,506 (GRCm39) K131R probably benign Het
Or12k5 G A 2: 36,895,462 (GRCm39) L55F probably damaging Het
Or1e29 A G 11: 73,667,935 (GRCm39) F73L possibly damaging Het
Or1j15 T A 2: 36,458,893 (GRCm39) Y94* probably null Het
Or1j20 T C 2: 36,760,022 (GRCm39) L148S possibly damaging Het
Or4c10 T A 2: 89,760,423 (GRCm39) I90K possibly damaging Het
Or4f7 A C 2: 111,644,213 (GRCm39) I286S probably damaging Het
Or5p52 C T 7: 107,502,212 (GRCm39) T96I probably benign Het
Or6c202 C T 10: 128,996,707 (GRCm39) D49N possibly damaging Het
Pde7a T C 3: 19,295,697 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,903,519 (GRCm39) C591R probably benign Het
Pkn2 T G 3: 142,559,343 (GRCm39) K61Q probably damaging Het
Ppfia1 C A 7: 144,058,711 (GRCm39) G722C probably damaging Het
Ppp1cb T C 5: 32,644,958 (GRCm39) V263A probably damaging Het
Rab11fip2 A T 19: 59,895,567 (GRCm39) N440K possibly damaging Het
Rbm34 T A 8: 127,676,234 (GRCm39) K340N probably damaging Het
Samd3 T C 10: 26,147,399 (GRCm39) probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sigirr T C 7: 140,671,285 (GRCm39) D399G probably damaging Het
Slc17a7 A G 7: 44,824,371 (GRCm39) E554G probably benign Het
Smc3 A G 19: 53,589,993 (GRCm39) probably benign Het
Tdrd1 T C 19: 56,819,703 (GRCm39) Y68H probably benign Het
Tespa1 T A 10: 130,196,719 (GRCm39) L219Q probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Ttc38 A G 15: 85,740,673 (GRCm39) S436G probably benign Het
Ttn T A 2: 76,581,423 (GRCm39) I23157F probably damaging Het
Ubxn2b T A 4: 6,203,875 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r72 T C 7: 85,401,044 (GRCm39) E125G probably benign Het
Vmn2r78 A T 7: 86,572,235 (GRCm39) D532V probably benign Het
Vwa8 C A 14: 79,320,222 (GRCm39) L1078I probably benign Het
Vwce A T 19: 10,641,453 (GRCm39) probably null Het
Zpr1 A G 9: 46,190,995 (GRCm39) D300G probably 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
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
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'- GCAGGCACTTCGCTTTGAGAAC -3'
(R):5'- GTCACCCACAGTGTAGATTGGATGG -3'

Sequencing Primer
(F):5'- TTGCTAACAGTGTCCACAGG -3'
(R):5'- CCACAGTGTAGATTGGATGGATTTTG -3'
Posted On 2013-04-11