Incidental Mutation 'R5368:Foxp2'
ID 429474
Institutional Source Beutler Lab
Gene Symbol Foxp2
Ensembl Gene ENSMUSG00000029563
Gene Name forkhead box P2
Synonyms D0Kist7, 2810043D05Rik
MMRRC Submission 043204-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5368 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 14901348-15441976 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 15377913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031545] [ENSMUST00000115469] [ENSMUST00000115472] [ENSMUST00000115474] [ENSMUST00000115475] [ENSMUST00000115477] [ENSMUST00000131414] [ENSMUST00000140557] [ENSMUST00000137628]
AlphaFold P58463
Predicted Effect unknown
Transcript: ENSMUST00000031545
AA Change: K141N
SMART Domains Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: K141N

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: K140N
SMART Domains Protein: ENSMUSP00000111129
Gene: ENSMUSG00000029563
AA Change: K140N

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 unknown
Transcript: ENSMUST00000115474
AA Change: K166N
SMART Domains Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: K166N

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: K141N
SMART Domains Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: K141N

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: K166N
SMART Domains Protein: ENSMUSP00000123007
Gene: ENSMUSG00000029563
AA Change: K166N

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: ENSMUST00000140557
AA Change: K147N
SMART Domains Protein: ENSMUSP00000121503
Gene: ENSMUSG00000029563
AA Change: K147N

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: 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: 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 noncoding transcript
Transcript: ENSMUST00000152563
SMART Domains Protein: ENSMUSP00000118879
Gene: ENSMUSG00000029563

DomainStartEndE-ValueType
low complexity region 8 46 N/A INTRINSIC
Meta Mutation Damage Score 0.0768 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (61/63)
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
4933402N03Rik T A 7: 130,740,925 (GRCm39) H97L possibly damaging Het
Abca9 T A 11: 110,036,372 (GRCm39) N579I probably damaging Het
Acbd3 A T 1: 180,549,660 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,509,199 (GRCm39) I1056N probably damaging Het
Ceacam18 T C 7: 43,291,458 (GRCm39) V300A probably benign Het
Cfap46 C A 7: 139,207,389 (GRCm39) R1843S possibly damaging Het
D430041D05Rik A G 2: 104,078,629 (GRCm39) V1229A probably damaging Het
Dbx2 G A 15: 95,538,522 (GRCm39) S206L probably benign Het
Dnah11 A T 12: 117,918,628 (GRCm39) D1530E probably damaging Het
Ecm2 A C 13: 49,674,419 (GRCm39) T280P probably benign Het
Emc2 G A 15: 43,375,207 (GRCm39) probably null Het
Epb42 C T 2: 120,849,943 (GRCm39) V689I probably benign Het
Fam114a1 T A 5: 65,163,452 (GRCm39) M209K possibly damaging Het
Fam117a C T 11: 95,266,459 (GRCm39) S193F probably damaging Het
Frmd6 T A 12: 70,910,874 (GRCm39) C19* probably null Het
Fyb1 A G 15: 6,610,159 (GRCm39) probably null Het
Gata6 C A 18: 11,063,059 (GRCm39) H442Q possibly damaging Het
Gldc A G 19: 30,135,921 (GRCm39) S160P probably benign Het
Gm3952 A G 8: 129,472,455 (GRCm39) S1626P possibly damaging Het
Gm9762 T A 3: 78,873,742 (GRCm39) noncoding transcript Het
Gtpbp2 T C 17: 46,477,230 (GRCm39) probably benign Het
Hgd A T 16: 37,410,113 (GRCm39) T50S probably benign Het
Itpr1 C T 6: 108,364,459 (GRCm39) T22M probably damaging Het
Kif26b G A 1: 178,743,449 (GRCm39) E1182K probably damaging Het
Kirrel3 A G 9: 34,919,034 (GRCm39) E230G probably damaging Het
Leng8 A G 7: 4,142,987 (GRCm39) Y88C probably damaging Het
Lpo T C 11: 87,711,895 (GRCm39) D54G possibly damaging Het
Lypd2 G T 15: 74,604,908 (GRCm39) A29E probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mical3 T C 6: 120,936,434 (GRCm39) Y1364C probably damaging Het
Mroh2b A G 15: 4,935,054 (GRCm39) N163S probably damaging Het
Mtf1 G A 4: 124,718,872 (GRCm39) C295Y probably damaging Het
Nbn T A 4: 15,969,391 (GRCm39) L212Q probably damaging Het
Obscn A T 11: 58,959,852 (GRCm39) probably null Het
Or10ag56 T A 2: 87,139,126 (GRCm39) probably null Het
Or4c110 A G 2: 88,832,435 (GRCm39) S66P probably damaging Het
Peli1 A G 11: 21,098,389 (GRCm39) T375A probably damaging Het
Picalm T C 7: 89,856,803 (GRCm39) *611Q probably null Het
Plch1 G T 3: 63,609,394 (GRCm39) Q938K possibly damaging Het
Plxnb2 A G 15: 89,043,796 (GRCm39) V1352A possibly damaging Het
Pmepa1 G A 2: 173,070,115 (GRCm39) R147W probably damaging Het
Prdm16 T G 4: 154,429,848 (GRCm39) K373Q probably damaging Het
Qki T G 17: 10,457,964 (GRCm39) E135A probably damaging Het
Rad50 T C 11: 53,575,073 (GRCm39) K556E probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sin3a T A 9: 57,018,084 (GRCm39) D834E possibly damaging Het
Smg8 G A 11: 86,971,086 (GRCm39) S895L probably benign Het
Sorl1 T C 9: 41,890,686 (GRCm39) I1944M probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tmprss7 A T 16: 45,481,252 (GRCm39) W645R probably damaging Het
Tns1 T C 1: 73,980,176 (GRCm39) M1111V probably benign Het
Ttn A C 2: 76,608,726 (GRCm39) D17763E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 G A 4: 139,124,839 (GRCm39) probably benign Het
Usp31 T C 7: 121,260,588 (GRCm39) H637R probably damaging Het
Vps50 A C 6: 3,567,739 (GRCm39) E545A possibly damaging Het
Wdfy3 G T 5: 102,020,724 (GRCm39) L2527M probably damaging Het
Wfdc2 T C 2: 164,405,354 (GRCm39) V85A 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
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'- GAGCTGTCTCTTTAAACCCAATG -3'
(R):5'- TCTCAAAGCGCCTTCTCAAC -3'

Sequencing Primer
(F):5'- TACCCTACCATGTGTCAG -3'
(R):5'- AGCGCCTTCTCAACCCCATG -3'
Posted On 2016-09-06