Mutagenetix > Incidental Mutation

Incidental Mutation 'R1381:Foxp2'

163011

Institutional Source

Beutler Lab

Gene Symbol

Foxp2

Ensembl Gene

ENSMUSG00000029563

Gene Name

forkhead box P2

Synonyms

D0Kist7, 2810043D05Rik

MMRRC Submission

039443-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1381 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14901348-15441976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15409765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 455 (M455K)

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: M430K

SMART Domains

Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: M430K

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: M409K

SMART Domains

Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: M409K

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

possibly damaging
Transcript: ENSMUST00000115474
AA Change: M455K

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: M455K

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: M430K

SMART Domains

Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: M430K

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.2%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,561,430 (GRCm39)	F252L	probably benign	Het
Aadac	A	T	3: 59,947,351 (GRCm39)	M350L	probably damaging	Het
Agtrap	G	A	4: 148,168,422 (GRCm39)	T19I	probably damaging	Het
Apba3	C	T	10: 81,107,590 (GRCm39)	T142M	possibly damaging	Het
Cd55b	T	A	1: 130,347,412 (GRCm39)	K133I	probably damaging	Het
Cep295	A	C	9: 15,233,861 (GRCm39)	C2312G	probably benign	Het
Ces1a	A	G	8: 93,760,659 (GRCm39)	V231A	probably damaging	Het
Chdh	C	A	14: 29,758,791 (GRCm39)	L579I	probably damaging	Het
Cyb5r4	T	A	9: 86,904,286 (GRCm39)	S19T	probably benign	Het
Cyp2d22	C	A	15: 82,256,709 (GRCm39)	R355L	probably benign	Het
Dach2	T	C	X: 112,208,472 (GRCm39)	Y117H	probably damaging	Het
Dennd4c	G	A	4: 86,692,769 (GRCm39)	R93K	probably benign	Het
Dph2	G	T	4: 117,746,865 (GRCm39)	L452I	probably damaging	Het
Exoc6b	T	C	6: 84,812,099 (GRCm39)	D634G	probably benign	Het
Fam217b	G	A	2: 178,062,218 (GRCm39)	V61I	probably benign	Het
Fbln7	A	C	2: 128,719,299 (GRCm39)	Q32P	probably damaging	Het
Fgfr1op2	A	G	6: 146,490,239 (GRCm39)	Y46C	probably damaging	Het
Fhod3	T	A	18: 25,223,528 (GRCm39)	I958N	probably damaging	Het
Gabrr2	G	A	4: 33,081,420 (GRCm39)	G152D	probably damaging	Het
Galntl6	G	T	8: 58,925,989 (GRCm39)	P92Q	probably damaging	Het
Gm5592	A	T	7: 40,935,596 (GRCm39)	T33S	probably benign	Het
Grid2ip	A	T	5: 143,348,406 (GRCm39)	T166S	probably benign	Het
Grsf1	G	A	5: 88,813,723 (GRCm39)	S225L	probably benign	Het
Hadha	G	T	5: 30,333,834 (GRCm39)	T395K	probably benign	Het
Hars2	C	T	18: 36,922,270 (GRCm39)	A295V	possibly damaging	Het
Hsf5	T	A	11: 87,528,995 (GRCm39)	S577T	probably benign	Het
Ice2	A	G	9: 69,307,809 (GRCm39)	Y31C	probably damaging	Het
Ift80	A	T	3: 68,822,116 (GRCm39)	I643N	possibly damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Ilvbl	C	A	10: 78,412,430 (GRCm39)	S50R	probably damaging	Het
Invs	C	A	4: 48,421,942 (GRCm39)	S858*	probably null	Het
Ipo13	T	G	4: 117,761,592 (GRCm39)	T508P	probably damaging	Het
Itgb4	T	C	11: 115,885,163 (GRCm39)	I1015T	probably benign	Het
Kank4	A	T	4: 98,668,175 (GRCm39)	W91R	probably damaging	Het
Kansl1l	C	T	1: 66,760,063 (GRCm39)	A906T	probably benign	Het
Klk4	G	A	7: 43,534,706 (GRCm39)	V222M	probably damaging	Het
Lipo4	T	A	19: 33,476,741 (GRCm39)	M336L	probably benign	Het
Lrig1	T	C	6: 94,583,111 (GRCm39)	N1002D	probably benign	Het
Lzts3	A	G	2: 130,477,219 (GRCm39)	S524P	probably damaging	Het
Maz	A	T	7: 126,622,324 (GRCm39)	C409*	probably null	Het
Mmp24	A	T	2: 155,656,047 (GRCm39)	Q495L	possibly damaging	Het
Mrgpra9	C	T	7: 46,885,050 (GRCm39)	V206I	possibly damaging	Het
Myof	A	G	19: 37,983,933 (GRCm39)	Y124H	probably damaging	Het
Nalcn	A	T	14: 123,551,517 (GRCm39)	V1030D	probably damaging	Het
Neb	T	A	2: 52,150,544 (GRCm39)	I2495F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nup153	T	C	13: 46,842,657 (GRCm39)	D837G	probably damaging	Het
Nup210	C	A	6: 91,052,942 (GRCm39)	G331V	probably damaging	Het
Or5b97	T	C	19: 12,878,320 (GRCm39)	T275A	probably benign	Het
Or5w18	T	C	2: 87,633,480 (GRCm39)	L245P	probably damaging	Het
Or6z7	A	G	7: 6,484,008 (GRCm39)		probably null	Het
Or8b56	T	A	9: 38,739,634 (GRCm39)	S210T	probably benign	Het
Pabpc4	T	A	4: 123,182,852 (GRCm39)	L163H	probably damaging	Het
Pcdh7	T	A	5: 57,878,882 (GRCm39)	Y126*	probably null	Het
Pdzd2	A	G	15: 12,385,525 (GRCm39)	S1082P	probably benign	Het
Pkd2l1	T	C	19: 44,138,902 (GRCm39)	I649M	probably benign	Het
Plcl2	G	A	17: 50,914,757 (GRCm39)	E589K	probably damaging	Het
Plppr1	C	A	4: 49,337,674 (GRCm39)	T325N	possibly damaging	Het
Prss8	GCTGCCCAAGTCCC	GC	7: 127,529,021 (GRCm39)		probably benign	Het
Ptcd2	A	G	13: 99,481,105 (GRCm39)	S25P	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rusc2	T	A	4: 43,416,137 (GRCm39)	V481E	probably damaging	Het
Sephs2	G	T	7: 126,872,139 (GRCm39)	T318K	probably damaging	Het
Sf3b1	T	A	1: 55,042,313 (GRCm39)	I497L	probably damaging	Het
Slc30a7	C	T	3: 115,750,519 (GRCm39)		probably null	Het
Slc66a2	T	G	18: 80,326,529 (GRCm39)	S126A	probably benign	Het
Smarca2	T	C	19: 26,608,228 (GRCm39)	S96P	probably damaging	Het
Spata31d1c	A	C	13: 65,184,368 (GRCm39)	I637L	probably benign	Het
Ston2	A	T	12: 91,707,266 (GRCm39)	S115T	probably damaging	Het
Tal2	A	C	4: 53,785,999 (GRCm39)	E60A	probably benign	Het
Tdpoz3	A	T	3: 93,733,447 (GRCm39)	T41S	probably benign	Het
Tent4b	T	A	8: 88,969,937 (GRCm39)	M203K	possibly damaging	Het
Tespa1	T	C	10: 130,196,560 (GRCm39)	I166T	probably benign	Het
Thsd7a	A	T	6: 12,555,438 (GRCm39)	C149S	probably damaging	Het
Trav6-1	T	A	14: 52,875,967 (GRCm39)		probably benign	Het
Txnl4a	T	C	18: 80,250,479 (GRCm39)	V25A	probably benign	Het
Utp4	C	A	8: 107,632,908 (GRCm39)	P297Q	probably benign	Het
Vmn1r34	T	C	6: 66,613,922 (GRCm39)	Y272C	probably damaging	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Vmn2r121	C	A	X: 123,037,837 (GRCm39)	G728W	probably damaging	Het
Vmn2r24	T	A	6: 123,763,692 (GRCm39)	S190T	probably damaging	Het
Zfp507	A	G	7: 35,475,435 (GRCm39)	V926A	possibly damaging	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
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'- TGCGGCTTATTAGTGGCAACACAG -3'
(R):5'- CATGATGTGCTTAGGGAATCGCCTC -3'

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

Posted On

2014-03-17