Mutagenetix > Incidental Mutations

Incidental Mutation 'R0004:Foxp2'

32380

Institutional Source

Beutler Lab

Gene Symbol

Foxp2

Ensembl Gene

ENSMUSG00000029563

Gene Name

forkhead box P2

Synonyms

D0Kist7, 2810043D05Rik

MMRRC Submission

038300-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0004 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

14901349-15441977 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15197096 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 45 (T45A)

Ref Sequence

ENSEMBL: ENSMUSP00000111129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031545] [ENSMUST00000115469] [ENSMUST00000115470] [ENSMUST00000115472] [ENSMUST00000115474] [ENSMUST00000115477] [ENSMUST00000128567] [ENSMUST00000131414] [ENSMUST00000137628] [ENSMUST00000140557] [ENSMUST00000154448]

Predicted Effect

probably benign
Transcript: ENSMUST00000031545
AA Change: T46A

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
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: T45A

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111129
Gene: ENSMUSG00000029563
AA Change: T45A

Domain	Start	End	E-Value	Type
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: ENSMUST00000115470
AA Change: T46A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000111130
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115472
AA Change: T46A

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
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: T46A

SMART Domains

Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
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
AA Change: T46A

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
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: ENSMUST00000128567
AA Change: T46A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123067
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
low complexity region	49	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131414
AA Change: T46A

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123007
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
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: T46A

SMART Domains

Protein: ENSMUSP00000116650
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000140557
AA Change: T46A

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121503
Gene: ENSMUSG00000029563
AA Change: T46A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 121,152,485	I86T	probably damaging	Het
Aff3	T	C	1: 38,269,726	D376G	possibly damaging	Het
Akap11	A	T	14: 78,514,940	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,353,220	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,151,998	V101A	probably damaging	Het
Atm	A	T	9: 53,453,528		probably benign	Het
Ccdc18	A	G	5: 108,161,700	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,574,102	Q261L	probably damaging	Het
Cd180	T	G	13: 102,702,708	V33G	probably benign	Het
Cd207	G	A	6: 83,674,248	Q242*	probably null	Het
Cnp	T	C	11: 100,576,807	F192S	probably damaging	Het
Colec10	G	T	15: 54,410,875	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,671,531	M16L	probably benign	Het
Dnah10	A	T	5: 124,726,902	M98L	probably benign	Het
Dnah17	T	C	11: 118,060,092	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,596,635		probably benign	Het
Epha5	T	C	5: 84,331,842	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,657,524	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,701,313	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,918,682	S179P	possibly damaging	Het
Gckr	A	T	5: 31,297,589		probably benign	Het
Glce	T	A	9: 62,068,579	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,146,487	H84P	unknown	Het
Hbegf	A	G	18: 36,507,506	V166A	probably damaging	Het
Helb	G	T	10: 120,108,981	H217N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,520,376	L392P	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Klra3	A	G	6: 130,323,687	S240P	probably damaging	Het
Liph	T	A	16: 21,984,194	R42*	probably null	Het
Lrp1	A	T	10: 127,541,825		probably null	Het
Luc7l2	A	T	6: 38,589,234	K52M	probably damaging	Het
Mecom	G	A	3: 29,979,911	P215S	probably damaging	Het
Myo1g	T	A	11: 6,515,901	T395S	probably damaging	Het
Ndst4	T	A	3: 125,570,826	M384K	probably benign	Het
Ndufb2	C	T	6: 39,596,504	T51I	possibly damaging	Het
Nell1	C	A	7: 50,560,759		probably benign	Het
Olfr639	A	T	7: 104,012,431	N90K	probably benign	Het
Oxr1	G	A	15: 41,820,540	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,237	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,411,959	D29E	probably benign	Het
Pde10a	A	G	17: 8,981,576	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,818,183	H1184L	probably damaging	Het
Prkaa2	C	T	4: 105,047,091	R263Q	probably null	Het
Prmt9	A	G	8: 77,555,782	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,884,936	T678A	probably benign	Het
Ryr2	T	C	13: 11,665,919	Y3180C	probably benign	Het
Scaf1	T	C	7: 45,007,670		probably benign	Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,564,562		probably benign	Het
Sf1	C	A	19: 6,374,191	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,557,009		probably benign	Het
Stk32a	T	C	18: 43,305,056	W207R	probably damaging	Het
Syne1	A	T	10: 5,443,132		probably benign	Het
Tecta	A	T	9: 42,345,478	V1634E	possibly damaging	Het
Tenm2	A	G	11: 36,023,357	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,692,366		probably benign	Het
Tpgs2	A	G	18: 25,158,238		probably benign	Het
Washc5	A	G	15: 59,367,467	M149T	probably damaging	Het
Wrn	A	T	8: 33,317,560	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,442,888	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,110,866	A123V	probably benign	Het

Other mutations in Foxp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Foxp2	APN	6	15403819	missense	probably damaging	1.00
IGL01011:Foxp2	APN	6	15438019	makesense	probably null
IGL01412:Foxp2	APN	6	15376758	intron	probably benign
IGL01769:Foxp2	APN	6	15409835	missense	possibly damaging	0.92
IGL02578:Foxp2	APN	6	15376815	intron	probably benign
IGL03368:Foxp2	APN	6	15394718	missense	probably damaging	1.00
R0081:Foxp2	UTSW	6	15405644	critical splice donor site	probably benign
R0095:Foxp2	UTSW	6	15196977	missense	probably damaging	1.00
R0233:Foxp2	UTSW	6	15409753	missense	probably damaging	1.00
R0294:Foxp2	UTSW	6	15376774	intron	probably benign
R0357:Foxp2	UTSW	6	15409840	missense	probably damaging	0.99
R0432:Foxp2	UTSW	6	15254279	intron	probably benign
R0659:Foxp2	UTSW	6	15254279	intron	probably benign
R1381:Foxp2	UTSW	6	15409766	missense	possibly damaging	0.50
R1813:Foxp2	UTSW	6	15379768	utr 3 prime	probably benign
R1896:Foxp2	UTSW	6	15379768	utr 3 prime	probably benign
R2007:Foxp2	UTSW	6	15396819	missense	probably damaging	1.00
R2020:Foxp2	UTSW	6	15324644	missense	possibly damaging	0.73
R2167:Foxp2	UTSW	6	15437902	missense	probably damaging	1.00
R2326:Foxp2	UTSW	6	15409939	missense	possibly damaging	0.84
R3829:Foxp2	UTSW	6	15379831	unclassified	probably benign
R3978:Foxp2	UTSW	6	15197208	unclassified	probably benign
R4393:Foxp2	UTSW	6	15377690	intron	probably benign
R4703:Foxp2	UTSW	6	15411248	missense	probably benign	0.03
R5202:Foxp2	UTSW	6	15394771	missense	probably benign	0.05
R5303:Foxp2	UTSW	6	15324637	missense	probably benign	0.00
R5368:Foxp2	UTSW	6	15377914	intron	probably benign
R5533:Foxp2	UTSW	6	15197120	nonsense	probably null
R5655:Foxp2	UTSW	6	15197113	missense	probably damaging	0.99
R6220:Foxp2	UTSW	6	15437948	missense	probably damaging	1.00
R6241:Foxp2	UTSW	6	15394762	missense	probably damaging	1.00
R6365:Foxp2	UTSW	6	15286685	missense	probably damaging	1.00
R6384:Foxp2	UTSW	6	15437948	missense	probably damaging	1.00
R7217:Foxp2	UTSW	6	15416024	missense	unknown
R7553:Foxp2	UTSW	6	15437882	missense	unknown
R7881:Foxp2	UTSW	6	15409889	missense	unknown
R8420:Foxp2	UTSW	6	15403867	missense	unknown
X0023:Foxp2	UTSW	6	15409835	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTAATTGGCAGAGAGGGACATCC -3'
(R):5'- CACTCTGGCACTGCTATGACGTAAC -3'

Sequencing Primer
(F):5'- CATCCTGAGAATGGAGGTGTG -3'
(R):5'- GGCACTGCTATGACGTAACTAATG -3'

Posted On

2013-05-09