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

14901348-15441976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15324643 bp (GRCm39)

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

noncoding transcript
Transcript: ENSMUST00000203227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151060

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: 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

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: 158,796,482 (GRCm39)		noncoding transcript	Het
Adam17	G	A	12: 21,399,876 (GRCm39)	R177C	probably damaging	Het
Ak7	G	A	12: 105,711,591 (GRCm39)		probably null	Het
Akap9	T	C	5: 4,011,967 (GRCm39)	V890A	probably damaging	Het
Alg6	A	G	4: 99,626,369 (GRCm39)	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,429,375 (GRCm39)	A43S	probably benign	Het
Anxa2	C	A	9: 69,391,099 (GRCm39)	D162E	probably damaging	Het
Arap1	A	G	7: 101,050,725 (GRCm39)	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,730,900 (GRCm39)	R121G	probably benign	Het
Arhgef4	A	T	1: 34,762,891 (GRCm39)	T716S	unknown	Het
Atg2a	T	C	19: 6,300,299 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,770 (GRCm39)	I480V	probably null	Het
Cdipt	T	C	7: 126,576,105 (GRCm39)	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 47,067,902 (GRCm39)		probably benign	Het
Chd7	G	A	4: 8,855,226 (GRCm39)	V2152I	probably benign	Het
Chd8	T	A	14: 52,452,698 (GRCm39)	S1274C	probably damaging	Het
Chuk	A	T	19: 44,095,782 (GRCm39)	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,309,577 (GRCm39)		probably benign	Het
Col20a1	G	A	2: 180,654,956 (GRCm39)		probably null	Het
Cped1	A	G	6: 22,143,963 (GRCm39)	I570V	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Ddx27	A	C	2: 166,875,691 (GRCm39)	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,333,158 (GRCm39)	F131L	probably damaging	Het
Dhx38	G	A	8: 110,283,501 (GRCm39)		probably benign	Het
Dido1	G	T	2: 180,301,378 (GRCm39)	N2175K	unknown	Het
Dmxl1	T	A	18: 50,022,625 (GRCm39)	Y1654*	probably null	Het
Dock7	T	A	4: 98,847,338 (GRCm39)	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925 (GRCm39)	I555V	probably benign	Het
Eif2ak2	T	C	17: 79,171,392 (GRCm39)	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,315,209 (GRCm39)	D46V	probably benign	Het
Fcgbpl1	T	C	7: 27,855,019 (GRCm39)	S1882P	probably benign	Het
Fech	C	T	18: 64,611,798 (GRCm39)	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,362 (GRCm39)	I693F	probably damaging	Het
Grin2b	A	G	6: 135,710,894 (GRCm39)	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,445,947 (GRCm39)	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,723,906 (GRCm39)	G468W	possibly damaging	Het
Ift172	A	T	5: 31,424,585 (GRCm39)	L201*	probably null	Het
Ift70a1	A	G	2: 75,811,279 (GRCm39)	V268A	probably benign	Het
Il1rl2	C	A	1: 40,404,374 (GRCm39)	S498R	probably damaging	Het
Ildr1	C	T	16: 36,545,903 (GRCm39)	R489W	probably damaging	Het
Itga10	G	A	3: 96,559,806 (GRCm39)	G487D	probably damaging	Het
Klk1b8	A	G	7: 43,448,640 (GRCm39)	N128D	probably benign	Het
Lgr6	G	A	1: 135,003,013 (GRCm39)	T79M	probably damaging	Het
Med6	T	C	12: 81,620,651 (GRCm39)	T232A	probably benign	Het
Mgat4e	A	G	1: 134,469,060 (GRCm39)	L328P	probably damaging	Het
Mttp	A	G	3: 137,824,163 (GRCm39)	Y138H	probably damaging	Het
Ngef	T	C	1: 87,473,690 (GRCm39)	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,830,287 (GRCm39)		probably null	Het
Nlgn2	G	T	11: 69,719,267 (GRCm39)	N194K	probably damaging	Het
Or1q1	G	A	2: 36,887,664 (GRCm39)	V281M	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Or5b98	G	A	19: 12,931,696 (GRCm39)	V248I	possibly damaging	Het
Or5m13b	A	G	2: 85,754,087 (GRCm39)	I158M	probably benign	Het
Or8c16	A	G	9: 38,130,728 (GRCm39)	Y203C	possibly damaging	Het
Pcca	T	A	14: 123,050,634 (GRCm39)	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,212,708 (GRCm39)	T671A	possibly damaging	Het
Prex2	G	A	1: 11,232,536 (GRCm39)	V868M	probably damaging	Het
Prkcq	G	A	2: 11,284,332 (GRCm39)	V501I	probably benign	Het
Prom1	T	A	5: 44,168,595 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,051,398 (GRCm39)	V41A	probably damaging	Het
Rab39	C	T	9: 53,597,698 (GRCm39)	G189E	possibly damaging	Het
Ret	T	C	6: 118,157,343 (GRCm39)	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,596,153 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,352,744 (GRCm39)	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,072,665 (GRCm39)	N336S	probably damaging	Het
Sag	G	A	1: 87,733,037 (GRCm39)	A2T	probably damaging	Het
Sco2	T	C	15: 89,256,063 (GRCm39)	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,408,864 (GRCm39)	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,781,377 (GRCm39)	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,727,339 (GRCm39)	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,586,013 (GRCm39)	L17P	probably damaging	Het
Sqor	T	C	2: 122,646,027 (GRCm39)		probably null	Het
Stx18	A	G	5: 38,292,588 (GRCm39)	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,607,732 (GRCm39)	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,570,658 (GRCm39)	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,060,765 (GRCm39)	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,074,305 (GRCm39)	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,270,384 (GRCm39)	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,655,773 (GRCm39)	S751P	probably damaging	Het
Ttn	A	G	2: 76,657,368 (GRCm39)		probably benign	Het
Ugdh	T	C	5: 65,574,268 (GRCm39)	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,578,094 (GRCm39)	L273F	probably null	Het
Vmn2r109	A	T	17: 20,761,448 (GRCm39)	C636*	probably null	Het
Vmn2r59	A	C	7: 41,693,203 (GRCm39)	Y466D	probably damaging	Het
Zic5	C	T	14: 122,702,242 (GRCm39)	G163D	unknown	Het

Other mutations in Foxp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ACTCAGGGACTTAAGGCAGG -3'
(R):5'- AAAGTCTGCAGCCTTGTGTC -3'

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

Posted On

2014-08-25