Incidental Mutation 'R5655:Foxp2'
ID 442243
Institutional Source Beutler Lab
Gene Symbol Foxp2
Ensembl Gene ENSMUSG00000029563
Gene Name forkhead box P2
Synonyms D0Kist7, 2810043D05Rik
MMRRC Submission 043301-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5655 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 14901348-15441976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 15197112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 51 (H51Q)
Ref Sequence ENSEMBL: ENSMUSP00000123007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031545] [ENSMUST00000115469] [ENSMUST00000115470] [ENSMUST00000115472] [ENSMUST00000115474] [ENSMUST00000115477] [ENSMUST00000128567] [ENSMUST00000131414] [ENSMUST00000137628] [ENSMUST00000140557] [ENSMUST00000154448]
AlphaFold P58463
Predicted Effect possibly damaging
Transcript: ENSMUST00000031545
AA Change: H51Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: H51Q

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 possibly damaging
Transcript: ENSMUST00000115469
AA Change: H50Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111129
Gene: ENSMUSG00000029563
AA Change: H50Q

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 possibly damaging
Transcript: ENSMUST00000115470
AA Change: H51Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111130
Gene: ENSMUSG00000029563
AA Change: H51Q

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115472
AA Change: H51Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: H51Q

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 unknown
Transcript: ENSMUST00000115474
AA Change: H51Q
SMART Domains Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: H51Q

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 possibly damaging
Transcript: ENSMUST00000115477
AA Change: H51Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: H51Q

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 possibly damaging
Transcript: ENSMUST00000128567
AA Change: H51Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123067
Gene: ENSMUSG00000029563
AA Change: H51Q

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131414
AA Change: H51Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123007
Gene: ENSMUSG00000029563
AA Change: H51Q

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 unknown
Transcript: ENSMUST00000137628
AA Change: H51Q
SMART Domains Protein: ENSMUSP00000116650
Gene: ENSMUSG00000029563
AA Change: H51Q

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 noncoding transcript
Transcript: ENSMUST00000138273
Predicted Effect probably damaging
Transcript: ENSMUST00000140557
AA Change: H51Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121503
Gene: ENSMUSG00000029563
AA Change: H51Q

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 noncoding transcript
Transcript: ENSMUST00000151060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156883
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: ENSMUST00000154448
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,796,746 (GRCm39) I99F probably benign Het
Acan G A 7: 78,749,791 (GRCm39) D1521N possibly damaging Het
Acap3 C T 4: 155,981,076 (GRCm39) T53I probably benign Het
Actr3b G T 5: 26,053,366 (GRCm39) V232F probably damaging Het
Adgrl1 G A 8: 84,665,230 (GRCm39) V1311M possibly damaging Het
Arhgap23 T C 11: 97,343,372 (GRCm39) probably null Het
Asns A C 6: 7,685,309 (GRCm39) M116R probably benign Het
Asprv1 A T 6: 86,605,464 (GRCm39) E103D probably benign Het
Atxn2 T C 5: 121,885,489 (GRCm39) I232T probably damaging Het
B020004C17Rik C T 14: 57,252,689 (GRCm39) probably benign Het
Bckdha A G 7: 25,329,789 (GRCm39) Y414H probably damaging Het
Bod1l G A 5: 41,974,387 (GRCm39) T2309M probably benign Het
Cacna2d1 T A 5: 16,507,333 (GRCm39) F361I probably damaging Het
Cdc45 C T 16: 18,626,029 (GRCm39) probably null Het
Cog4 A G 8: 111,589,939 (GRCm39) Y368C probably damaging Het
Cplx3 C T 9: 57,523,258 (GRCm39) V100M probably damaging Het
Cyp4a12b C G 4: 115,290,994 (GRCm39) H341D probably damaging Het
Ddx10 A T 9: 53,120,987 (GRCm39) probably null Het
Dnah12 A T 14: 26,431,424 (GRCm39) Y414F probably benign Het
Dync1h1 A G 12: 110,595,496 (GRCm39) K1445R probably benign Het
Dync2h1 A C 9: 7,148,659 (GRCm39) D928E probably benign Het
Dzip1 T A 14: 119,124,644 (GRCm39) probably null Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fgf14 T C 14: 124,429,828 (GRCm39) N36D probably benign Het
Fmnl3 A T 15: 99,219,743 (GRCm39) F668L probably damaging Het
Foxl2 C T 9: 98,838,048 (GRCm39) P112L probably damaging Het
Frem3 A T 8: 81,339,323 (GRCm39) T539S probably benign Het
Ftcd G T 10: 76,423,937 (GRCm39) G493C probably damaging Het
Gab2 A G 7: 96,948,099 (GRCm39) S230G probably benign Het
Gabra1 A T 11: 42,073,750 (GRCm39) probably null Het
Gm14496 A T 2: 181,637,975 (GRCm39) I350L probably benign Het
Idh2 A C 7: 79,747,996 (GRCm39) C235G probably damaging Het
Ift140 C T 17: 25,264,038 (GRCm39) L514F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lamc3 C A 2: 31,815,729 (GRCm39) R1142S probably benign Het
Lmod2 A T 6: 24,603,853 (GRCm39) H276L possibly damaging Het
Lrrc37a T A 11: 103,389,381 (GRCm39) I2015L probably benign Het
Mcf2l A G 8: 13,060,444 (GRCm39) E764G probably damaging Het
Mcph1 G A 8: 18,838,326 (GRCm39) M749I probably benign Het
Msh2 C T 17: 88,026,871 (GRCm39) A789V possibly damaging Het
Ndufa2 T C 18: 36,877,519 (GRCm39) I19V probably benign Het
Neurod4 T A 10: 130,107,002 (GRCm39) K91* probably null Het
Nos1 G T 5: 118,061,322 (GRCm39) G883C probably damaging Het
Npdc1 A T 2: 25,297,692 (GRCm39) H121L possibly damaging Het
Or2ak5 G A 11: 58,611,077 (GRCm39) H266Y probably damaging Het
Or3a10 A C 11: 73,935,160 (GRCm39) Y313* probably null Het
Orc1 A G 4: 108,450,636 (GRCm39) I123V probably benign Het
P2ry13 C T 3: 59,117,260 (GRCm39) V173M possibly damaging Het
Pigk T A 3: 152,445,858 (GRCm39) N156K probably damaging Het
Pik3ap1 A T 19: 41,286,680 (GRCm39) F569Y possibly damaging Het
Pla2g4c T A 7: 13,063,889 (GRCm39) probably null Het
Plk3 A G 4: 116,988,677 (GRCm39) L324P probably damaging Het
Pom121 A G 5: 135,421,171 (GRCm39) S260P unknown Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Prrt2 G A 7: 126,618,574 (GRCm39) A297V probably damaging Het
Prss47 A T 13: 65,192,857 (GRCm39) V308E probably damaging Het
Ptbp2 T C 3: 119,517,806 (GRCm39) I139V probably benign Het
Ptprz1 A T 6: 22,999,772 (GRCm39) M621L probably benign Het
Rab6a G A 7: 100,257,501 (GRCm39) probably null Het
Ranbp1 C T 16: 18,059,669 (GRCm39) D127N probably damaging Het
Rnpepl1 G T 1: 92,847,032 (GRCm39) R272L probably damaging Het
Slc27a2 T C 2: 126,420,859 (GRCm39) L314P probably damaging Het
Slc6a5 A T 7: 49,606,218 (GRCm39) M709L probably benign Het
Smarcc1 A T 9: 109,986,412 (GRCm39) S238C probably null Het
Snx29 C T 16: 11,573,185 (GRCm39) L476F probably damaging Het
Sorbs2 T C 8: 46,194,618 (GRCm39) probably null Het
St6galnac2 T C 11: 116,575,972 (GRCm39) N160D probably damaging Het
Thsd7b A G 1: 129,556,671 (GRCm39) probably null Het
Trpc4ap G A 2: 155,495,547 (GRCm39) T306I possibly damaging Het
Ubr5 T G 15: 38,015,337 (GRCm39) Y891S probably damaging Het
Vmn1r220 A G 13: 23,368,298 (GRCm39) F133L probably benign Het
Vmn1r56 T A 7: 5,198,700 (GRCm39) I306F possibly damaging Het
Vmn1r67 T C 7: 10,181,315 (GRCm39) V193A probably benign Het
Yipf1 T A 4: 107,202,354 (GRCm39) V239E probably damaging Het
Zfp7 G T 15: 76,775,629 (GRCm39) C557F 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
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
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'- CATCCTGAGAATGGAGGTGTG -3'
(R):5'- CACTCTGGCACTGCTATGAC -3'

Sequencing Primer
(F):5'- AGGTGTAACGTGTGTTAATTGATAC -3'
(R):5'- TGGCACTGCTATGACGTAAC -3'
Posted On 2016-11-09