Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Foxp2'

38826

Institutional Source

Beutler Lab

Gene Symbol

Foxp2

Ensembl Gene

ENSMUSG00000029563

Gene Name

forkhead box P2

Synonyms

D0Kist7, 2810043D05Rik

MMRRC Submission

038634-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14901348-15441976 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 15254278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121503 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000115474

SMART Domains

Protein: ENSMUSP00000111134
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	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

probably benign
Transcript: ENSMUST00000118133

SMART Domains

Protein: ENSMUSP00000113163
Gene: ENSMUSG00000029563

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128567

SMART Domains

Protein: ENSMUSP00000123067
Gene: ENSMUSG00000029563

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138273

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

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,708 (GRCm39)	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,884,785 (GRCm39)	C358S	probably damaging	Het
Abca8b	C	A	11: 109,870,841 (GRCm39)	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,905,551 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,611,726 (GRCm39)	I548R	probably damaging	Het
Alox12b	G	T	11: 69,060,382 (GRCm39)	G646V	probably damaging	Het
Aoah	C	T	13: 21,095,368 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Atxn1l	A	G	8: 110,458,325 (GRCm39)	W646R	probably damaging	Het
Cabp2	T	C	19: 4,134,903 (GRCm39)	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,577,716 (GRCm39)	T719I	probably damaging	Het
Camk1d	A	T	2: 5,449,946 (GRCm39)	H70Q	probably damaging	Het
Car1	T	C	3: 14,835,236 (GRCm39)	T170A	probably benign	Het
Ccdc162	T	C	10: 41,417,856 (GRCm39)	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273 (GRCm39)	C18*	probably null	Het
Cdk17	A	T	10: 93,073,652 (GRCm39)		probably benign	Het
Chd9	T	A	8: 91,721,078 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,000 (GRCm39)	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,738,487 (GRCm39)	T423A	probably benign	Het
Col11a1	A	G	3: 113,999,550 (GRCm39)		probably benign	Het
Col27a1	T	C	4: 63,143,848 (GRCm39)	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,314,003 (GRCm39)	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,457,173 (GRCm39)	K180*	probably null	Het
Dmxl2	T	C	9: 54,324,235 (GRCm39)	R876G	probably benign	Het
Dnmbp	A	T	19: 43,843,296 (GRCm39)	Y432*	probably null	Het
Elapor2	G	T	5: 9,490,966 (GRCm39)	G659*	probably null	Het
Eml2	C	T	7: 18,913,456 (GRCm39)	Q125*	probably null	Het
Faap100	A	C	11: 120,264,702 (GRCm39)		probably benign	Het
Gda	A	G	19: 21,394,471 (GRCm39)	Y129H	probably damaging	Het
Gga3	G	A	11: 115,481,350 (GRCm39)	R207C	probably damaging	Het
Glg1	T	C	8: 111,909,201 (GRCm39)	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10322	A	T	10: 59,452,030 (GRCm39)	H49L	possibly damaging	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Gramd2b	G	A	18: 56,607,141 (GRCm39)	C85Y	probably benign	Het
Grhl1	C	T	12: 24,632,918 (GRCm39)	P153L	probably benign	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,353,054 (GRCm39)	I414V	probably damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Lipe	G	A	7: 25,097,913 (GRCm39)	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,147,079 (GRCm39)	E631G	probably damaging	Het
Lvrn	T	A	18: 47,038,366 (GRCm39)	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,042,881 (GRCm39)	H250Q	probably damaging	Het
Mup3	T	C	4: 62,003,519 (GRCm39)	T117A	probably benign	Het
Myo6	A	C	9: 80,181,256 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,983,951 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,770 (GRCm39)	N157K	probably damaging	Het
Or4p7	C	T	2: 88,222,377 (GRCm39)	T262I	probably damaging	Het
Or5an1	T	A	19: 12,261,267 (GRCm39)	M285K	probably damaging	Het
Or5m12	T	A	2: 85,734,501 (GRCm39)	N299I	probably damaging	Het
Or5w14	G	A	2: 87,541,774 (GRCm39)	H159Y	probably benign	Het
Or9m1	T	C	2: 87,733,304 (GRCm39)	T239A	probably damaging	Het
P4ha1	T	A	10: 59,184,079 (GRCm39)	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,632,588 (GRCm39)	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,672,264 (GRCm39)	I379F	probably damaging	Het
Psme3	T	A	11: 101,211,268 (GRCm39)	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045 (GRCm39)	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,218,078 (GRCm39)		probably null	Het
Rabgap1l	A	C	1: 160,549,775 (GRCm39)	I277R	probably benign	Het
Rapgef1	C	T	2: 29,569,828 (GRCm39)	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,676,730 (GRCm39)	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,389,328 (GRCm39)	C38S	probably damaging	Het
Rptor	C	T	11: 119,671,379 (GRCm39)	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332 (GRCm39)	L208S	probably damaging	Het
Slc12a4	T	C	8: 106,686,120 (GRCm39)	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,560,735 (GRCm39)	V347F	probably benign	Het
Slit1	G	A	19: 41,731,732 (GRCm39)	T39I	probably damaging	Het
Sra1	T	C	18: 36,810,556 (GRCm39)	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,132,184 (GRCm39)	L215P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 51,104,280 (GRCm39)		probably benign	Het
Tgfbi	T	C	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem232	T	C	17: 65,563,498 (GRCm39)	M632V	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Tpsab1	A	G	17: 25,562,798 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,351,505 (GRCm39)	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,357,329 (GRCm39)	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,929,320 (GRCm39)	Y1052C	probably damaging	Het
Zan	A	T	5: 137,380,578 (GRCm39)		probably benign	Het
Zfp652	G	A	11: 95,654,565 (GRCm39)	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,629,955 (GRCm39)	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,848,134 (GRCm39)	Y110C	probably benign	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
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
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'- TGCAATGTTCTgccatgcagtttc -3'
(R):5'- CCTCGATGGGAGTGCAATTTCACAAC -3'

Sequencing Primer
(F):5'- CTCTTACGTCAAAAGAAACCATTTGC -3'
(R):5'- tctcaaacctgagctagagttag -3'

Posted On

2013-05-23