Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Foxp2'

223816

Institutional Source

Beutler Lab

Gene Symbol

Foxp2

Ensembl Gene

ENSMUSG00000029563

Gene Name

forkhead box P2

Synonyms

D0Kist7, 2810043D05Rik

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2020 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

14901349-15441977 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15324644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 97 (C97Y)

Ref Sequence

ENSEMBL: ENSMUSP00000123007 (fasta)

Gene Model

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

AlphaFold

P58463

Predicted Effect

probably benign
Transcript: ENSMUST00000031545

SMART Domains

Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563

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: ENSMUST00000115469

SMART Domains

Protein: ENSMUSP00000111129
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
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

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: C97Y

SMART Domains

Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: C97Y

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

SMART Domains

Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563

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: ENSMUST00000131414
AA Change: C97Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123007
Gene: ENSMUSG00000029563
AA Change: C97Y

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

probably benign
Transcript: ENSMUST00000137628

SMART Domains

Protein: ENSMUSP00000116650
Gene: ENSMUSG00000029563

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

probably benign
Transcript: ENSMUST00000140557

SMART Domains

Protein: ENSMUSP00000121503
Gene: ENSMUSG00000029563

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: 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

noncoding transcript
Transcript: ENSMUST00000203227

Meta Mutation Damage Score

0.0677

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,968,912		noncoding transcript	Het
9530053A07Rik	T	C	7: 28,155,594	S1882P	probably benign	Het
Adam17	G	A	12: 21,349,875	R177C	probably damaging	Het
Ak7	G	A	12: 105,745,332		probably null	Het
Akap9	T	C	5: 3,961,967	V890A	probably damaging	Het
Alg6	A	G	4: 99,738,132	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,538,549	A43S	probably benign	Het
Anxa2	C	A	9: 69,483,817	D162E	probably damaging	Het
Arap1	A	G	7: 101,401,518	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,854,904	R121G	probably benign	Het
Arhgef4	A	T	1: 34,723,810	T716S	unknown	Het
Atg2a	T	C	19: 6,250,269		probably null	Het
Ccdc27	T	C	4: 154,033,313	I480V	probably null	Het
Cdipt	T	C	7: 126,976,933	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 46,830,445		probably benign	Het
Chd7	G	A	4: 8,855,226	V2152I	probably benign	Het
Chd8	T	A	14: 52,215,241	S1274C	probably damaging	Het
Chuk	A	T	19: 44,107,343	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,446,181		probably benign	Het
Col20a1	G	A	2: 181,013,163		probably null	Het
Cped1	A	G	6: 22,143,964	I570V	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Ddx27	A	C	2: 167,033,771	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,612,003	F131L	probably damaging	Het
Dhx38	G	A	8: 109,556,869		probably benign	Het
Dido1	G	T	2: 180,659,585	N2175K	unknown	Het
Dmxl1	T	A	18: 49,889,558	Y1654*	probably null	Het
Dock7	T	A	4: 98,959,101	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925	I555V	probably benign	Het
Eif2ak2	T	C	17: 78,863,963	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,250,149	D46V	probably benign	Het
Fech	C	T	18: 64,478,727	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,363	I693F	probably damaging	Het
Grin2b	A	G	6: 135,733,896	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,417,093	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,833,894	G468W	possibly damaging	Het
Ift172	A	T	5: 31,267,241	L201*	probably null	Het
Il1rl2	C	A	1: 40,365,214	S498R	probably damaging	Het
Ildr1	C	T	16: 36,725,541	R489W	probably damaging	Het
Itga10	G	A	3: 96,652,490	G487D	probably damaging	Het
Klk8	A	G	7: 43,799,216	N128D	probably benign	Het
Lgr6	G	A	1: 135,075,275	T79M	probably damaging	Het
Med6	T	C	12: 81,573,877	T232A	probably benign	Het
Mgat4e	A	G	1: 134,541,322	L328P	probably damaging	Het
Mttp	A	G	3: 138,118,402	Y138H	probably damaging	Het
Ngef	T	C	1: 87,545,968	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,753,223		probably null	Het
Nlgn2	G	T	11: 69,828,441	N194K	probably damaging	Het
Olfr1026	A	G	2: 85,923,743	I158M	probably benign	Het
Olfr1245	A	T	2: 89,574,961	M255K	possibly damaging	Het
Olfr1450	G	A	19: 12,954,332	V248I	possibly damaging	Het
Olfr357	G	A	2: 36,997,652	V281M	possibly damaging	Het
Olfr894	A	G	9: 38,219,432	Y203C	possibly damaging	Het
Pcca	T	A	14: 122,813,222	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,284,970	T671A	possibly damaging	Het
Prex2	G	A	1: 11,162,312	V868M	probably damaging	Het
Prkcq	G	A	2: 11,279,521	V501I	probably benign	Het
Prom1	T	A	5: 44,011,253		probably benign	Het
Ptprd	A	G	4: 76,133,161	V41A	probably damaging	Het
Rab39	C	T	9: 53,686,398	G189E	possibly damaging	Het
Ret	T	C	6: 118,180,382	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,720,057		probably null	Het
Rnf213	A	G	11: 119,461,918	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,095,683	N336S	probably damaging	Het
Sag	G	A	1: 87,805,315	A2T	probably damaging	Het
Sco2	T	C	15: 89,371,860	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,566,944	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,987,728	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,993,412	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,696,001	L17P	probably damaging	Het
Sqor	T	C	2: 122,804,107		probably null	Het
Stx18	A	G	5: 38,135,244	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,630,769	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,593,724	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,166,972	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,232,385	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,442,819	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,418,333	S751P	probably damaging	Het
Ttc30a1	A	G	2: 75,980,935	V268A	probably benign	Het
Ttn	A	G	2: 76,827,024		probably benign	Het
Ugdh	T	C	5: 65,416,925	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,844,169	L273F	probably null	Het
Vmn2r109	A	T	17: 20,541,186	C636*	probably null	Het
Vmn2r59	A	C	7: 42,043,779	Y466D	probably damaging	Het
Zic5	C	T	14: 122,464,830	G163D	unknown	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
R0004:Foxp2	UTSW	6	15197096	missense	possibly damaging	0.68
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
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
R8865:Foxp2	UTSW	6	15415094	missense	unknown
R9147:Foxp2	UTSW	6	15286712	missense	possibly damaging	0.88
R9148:Foxp2	UTSW	6	15286712	missense	possibly damaging	0.88
R9290:Foxp2	UTSW	6	15197121	missense	possibly damaging	0.93
R9373:Foxp2	UTSW	6	15377970	missense	unknown
X0023:Foxp2	UTSW	6	15409835	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCAGGGACTTAAGGCAGG -3'
(R):5'- AAAGTCTGCAGCCTTGTGTC -3'

Sequencing Primer
(F):5'- CCTATATGAATGTCACCTGTGAAAC -3'
(R):5'- GCCTTGTGTCTGTTTCTTGACATAAC -3'

Posted On

2014-08-25