Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:Foxp2'

356201

Institutional Source

Beutler Lab

Gene Symbol

Foxp2

Ensembl Gene

ENSMUSG00000029563

Gene Name

forkhead box P2

Synonyms

D0Kist7, 2810043D05Rik

MMRRC Submission

041951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14901348-15441976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15411247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 542 (M542L)

Ref Sequence

ENSEMBL: ENSMUSP00000111134 (fasta)

Gene Model

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

AlphaFold

P58463

Predicted Effect

unknown
Transcript: ENSMUST00000031545
AA Change: M517L

SMART Domains

Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: M517L

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

unknown
Transcript: ENSMUST00000115472
AA Change: M496L

SMART Domains

Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: M496L

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
AA Change: M542L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: M542L

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: M517L

SMART Domains

Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: M517L

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

noncoding transcript
Transcript: ENSMUST00000151060

Meta Mutation Damage Score

0.1135

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,837,342 (GRCm39)	T248S	possibly damaging	Het
AA986860	T	C	1: 130,671,092 (GRCm39)	V438A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Aox1	T	A	1: 58,398,116 (GRCm39)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,564,366 (GRCm39)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,751,336 (GRCm39)	D110G	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm39)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,113,725 (GRCm39)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,528,830 (GRCm39)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 57,940,953 (GRCm39)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,683,405 (GRCm39)		probably benign	Het
Crbn	T	A	6: 106,759,883 (GRCm39)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,486,476 (GRCm39)		probably null	Het
Dnajc12	A	G	10: 63,222,429 (GRCm39)		probably null	Het
Dntt	T	A	19: 41,028,242 (GRCm39)	D179E	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epn1	T	A	7: 5,098,147 (GRCm39)	D319E	probably damaging	Het
Evpl	C	G	11: 116,113,331 (GRCm39)	R1453P	probably damaging	Het
Focad	T	A	4: 88,260,558 (GRCm39)		probably null	Het
Gak	T	A	5: 108,717,743 (GRCm39)	Q1299L	probably damaging	Het
Galnt5	G	T	2: 57,888,919 (GRCm39)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,166,724 (GRCm39)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,125,608 (GRCm39)		noncoding transcript	Het
Gna14	T	G	19: 16,576,344 (GRCm39)	V117G	possibly damaging	Het
Gpr6	T	C	10: 40,947,037 (GRCm39)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,429,220 (GRCm39)	L906H	probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Ighd	A	G	12: 113,379,661 (GRCm39)		probably benign	Het
Ighv11-1	A	C	12: 113,945,622 (GRCm39)	I77R	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Il23r	A	T	6: 67,467,686 (GRCm39)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,138,839 (GRCm39)	N261T	probably damaging	Het
Ints8	T	G	4: 11,223,785 (GRCm39)	Q686P	possibly damaging	Het
Iqcf4	T	C	9: 106,445,519 (GRCm39)		probably null	Het
Irf2bp1	C	T	7: 18,739,496 (GRCm39)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,213,066 (GRCm39)	P165S	probably benign	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,101,926 (GRCm39)	I186F	probably benign	Het
Limk2	C	A	11: 3,297,586 (GRCm39)	E329*	probably null	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Notch1	T	G	2: 26,361,170 (GRCm39)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,361,876 (GRCm39)	D281E	probably damaging	Het
Obi1	A	G	14: 104,743,644 (GRCm39)	L145P	probably benign	Het
Olfml2a	T	A	2: 38,841,250 (GRCm39)	L262Q	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or4k44	T	A	2: 111,368,113 (GRCm39)	I174L	probably benign	Het
Or51d1	A	T	7: 102,347,477 (GRCm39)	T11S	probably benign	Het
Or6k6	A	G	1: 173,944,964 (GRCm39)	I206T	possibly damaging	Het
Or7c19	A	G	8: 85,957,237 (GRCm39)	T38A	possibly damaging	Het
Otogl	A	C	10: 107,657,785 (GRCm39)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 31,817,427 (GRCm39)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,285,995 (GRCm39)	D743V	probably damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcnx1	C	T	12: 81,941,938 (GRCm39)	T112I	probably benign	Het
Pctp	T	C	11: 89,878,099 (GRCm39)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,332,517 (GRCm39)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Pnlip	T	A	19: 58,664,899 (GRCm39)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Rims3	A	T	4: 120,740,494 (GRCm39)		probably benign	Het
Scfd2	T	A	5: 74,680,256 (GRCm39)	Q299L	probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,032,643 (GRCm39)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,652,291 (GRCm39)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,704,862 (GRCm39)	R100S	probably damaging	Het
Sspo	G	A	6: 48,477,387 (GRCm39)	C4969Y	probably damaging	Het
Stxbp2	A	G	8: 3,682,521 (GRCm39)	S37G	probably damaging	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tcf4	A	G	18: 69,790,981 (GRCm39)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 129,977,646 (GRCm39)		probably benign	Het
Tnn	G	T	1: 159,943,815 (GRCm39)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,388,247 (GRCm39)	W63L	probably benign	Het
Tsc2	T	C	17: 24,823,883 (GRCm39)	N915S	probably benign	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Uvrag	A	T	7: 98,638,794 (GRCm39)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn2r59	T	A	7: 41,661,686 (GRCm39)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,214,641 (GRCm39)	H208L	probably damaging	Het
Wtap	T	C	17: 13,199,711 (GRCm39)	T91A	probably benign	Het
Xirp1	A	T	9: 119,846,093 (GRCm39)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,827,565 (GRCm39)	H877P	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
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
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
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'- GCAGATGTTAGACCTCCCTTC -3'
(R):5'- CTCATTCCATTCAAGAGGCAGG -3'

Sequencing Primer
(F):5'- TTCACTTATGCAACACTCATAAGGC -3'
(R):5'- TGTGTCATGTAAATAAATGCTCCTGG -3'

Posted On

2015-10-21