Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Foxp2'

29874

Institutional Source

Beutler Lab

Gene Symbol

Foxp2

Ensembl Gene

ENSMUSG00000029563

Gene Name

forkhead box P2

Synonyms

D0Kist7, 2810043D05Rik

MMRRC Submission

038563-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14901349-15441977 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15409840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 480 (P480S)

Ref Sequence

ENSEMBL: ENSMUSP00000111134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031545] [ENSMUST00000115469] [ENSMUST00000115472] [ENSMUST00000115474] [ENSMUST00000115475] [ENSMUST00000115477] [ENSMUST00000131414]

AlphaFold

P58463

Predicted Effect

unknown
Transcript: ENSMUST00000031545
AA Change: P455S

SMART Domains

Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: P455S

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

unknown
Transcript: ENSMUST00000115472
AA Change: P434S

SMART Domains

Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: P434S

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

probably damaging
Transcript: ENSMUST00000115474
AA Change: P480S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: P480S

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: ENSMUST00000115475

SMART Domains

Protein: ENSMUSP00000111135
Gene: ENSMUSG00000029563

Domain	Start	End	E-Value	Type
low complexity region	8	46	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000115477
AA Change: P455S

SMART Domains

Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: P455S

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: ENSMUST00000131414

SMART Domains

Protein: ENSMUSP00000123007
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	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

noncoding transcript
Transcript: ENSMUST00000151060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175576

Meta Mutation Damage Score

0.0854

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,209	S169P	possibly damaging	Het
4930402H24Rik	A	T	2: 130,712,946		probably benign	Het
4931428F04Rik	A	T	8: 105,285,067	V222E	probably damaging	Het
4932431P20Rik	A	T	7: 29,535,582		noncoding transcript	Het
9230019H11Rik	A	T	10: 3,120,307		noncoding transcript	Het
9230019H11Rik	A	G	10: 3,125,788		noncoding transcript	Het
Abcf2	T	C	5: 24,573,465	K232E	probably benign	Het
AI837181	C	T	19: 5,426,703	T298I	possibly damaging	Het
Alox12	T	C	11: 70,242,536	Y614C	probably damaging	Het
Amn	A	T	12: 111,274,141		probably null	Het
Ankrd33b	A	G	15: 31,305,126	S121P	probably benign	Het
Aox1	A	G	1: 58,092,516	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314	R736L	probably benign	Het
Atp2a3	G	A	11: 72,970,931		probably null	Het
Cables2	T	C	2: 180,262,232		probably benign	Het
Catsperg2	A	T	7: 29,714,901	Y360N	possibly damaging	Het
Ccdc129	T	A	6: 55,968,034	M580K	probably benign	Het
Cd163l1	T	G	7: 140,227,895	C660G	probably damaging	Het
Cdh4	T	C	2: 179,847,340	S282P	probably damaging	Het
Col5a3	C	T	9: 20,807,768		probably benign	Het
Ctso	A	T	3: 81,951,543		probably benign	Het
Cyp4f13	A	T	17: 32,932,651	Y125*	probably null	Het
Dapk1	T	A	13: 60,729,558	L537*	probably null	Het
Ddit4l	G	A	3: 137,626,185	R104Q	probably benign	Het
Def6	C	T	17: 28,223,935	H322Y	probably damaging	Het
Dnah6	T	C	6: 73,188,359	N588D	probably benign	Het
Dzip1	T	A	14: 118,909,538	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,609,204	H319R	probably damaging	Het
Erc2	A	G	14: 27,777,022	E285G	probably damaging	Het
Fam109b	C	T	15: 82,343,316	A12V	probably damaging	Het
Fat4	G	A	3: 38,891,227	G1423E	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,133	A126T	probably damaging	Het
Gbp5	G	A	3: 142,505,411	D301N	probably benign	Het
Gm10360	T	C	6: 70,424,313		noncoding transcript	Het
Gm6471	T	A	7: 142,833,867		noncoding transcript	Het
Gm8674	T	A	13: 49,902,113		noncoding transcript	Het
Hist2h2bb	A	C	3: 96,269,788	K13Q	probably null	Het
Ift172	A	G	5: 31,257,900	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,914,653	Y686*	probably null	Het
Insrr	A	C	3: 87,808,646		probably null	Het
Krt83	C	T	15: 101,487,019	V399M	probably benign	Het
Macf1	T	C	4: 123,457,983	N3708S	probably damaging	Het
Mogat1	T	C	1: 78,512,040	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,981,826	M9K	probably benign	Het
Mtus1	A	T	8: 41,083,526	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,710,902	M306K	probably benign	Het
Noxa1	G	T	2: 25,085,850	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,346,458	V884A	possibly damaging	Het
Olfr1335	A	C	4: 118,809,417	L149R	probably damaging	Het
Olfr1392	A	G	11: 49,293,786	N155S	probably damaging	Het
Olfr424	T	A	1: 174,137,299	L185*	probably null	Het
Olfr429	T	C	1: 174,089,109	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,758,623		probably benign	Het
Paxx	T	A	2: 25,460,067	E145D	probably damaging	Het
Pde4d	T	C	13: 109,951,268	V560A	possibly damaging	Het
Plxnd1	C	T	6: 115,969,460	V847M	probably benign	Het
Polk	T	A	13: 96,504,597	M151L	probably damaging	Het
Ptprq	C	T	10: 107,686,199		probably benign	Het
Pum2	A	G	12: 8,721,785	Q371R	possibly damaging	Het
Reln	G	A	5: 21,950,822	A2224V	probably damaging	Het
Shroom1	A	G	11: 53,465,208	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,267,332		probably null	Het
Spg11	A	C	2: 122,066,232		probably benign	Het
Tcaf3	T	A	6: 42,589,827	Y776F	probably damaging	Het
Thada	A	G	17: 84,230,936	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,590,304	P410S	probably damaging	Het
Ube2u	G	T	4: 100,481,654	E39*	probably null	Het
Vmn2r2	C	T	3: 64,133,899		probably null	Het
Vmn2r24	TCC	TC	6: 123,815,410		probably null	Het
Zfp110	A	G	7: 12,836,375	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,124,379	T55A	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
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
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
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'- TGCGGCTTATTAGTGGCAACACAG -3'
(R):5'- CATGATGTGCTTAGGGAATCGCCTC -3'

Sequencing Primer
(F):5'- AGCTGTAGAAGTGAATCCGTTCTC -3'
(R):5'- TCCACCCGCATTTACCAGG -3'

Posted On

2013-04-24