Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Foxp2'

675861

Institutional Source

Beutler Lab

Gene Symbol

Foxp2

Ensembl Gene

ENSMUSG00000029563

Gene Name

forkhead box P2

Synonyms

D0Kist7, 2810043D05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14901349-15441977 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15415094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 609 (A609V)

Ref Sequence

ENSEMBL: ENSMUSP00000111137 (fasta)

Gene Model

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

AlphaFold

P58463

Predicted Effect

unknown
Transcript: ENSMUST00000031545
AA Change: A609V

SMART Domains

Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: A609V

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: A588V

SMART Domains

Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: A588V

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: A634V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: A634V

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: A609V

SMART Domains

Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: A609V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly damaging	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
R0357:Foxp2	UTSW	6	15409840	missense	probably damaging	0.99
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
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'- TGAGTTACTGCCACACCCAC -3'
(R):5'- GTGAATGAGAATCAGTGCTTTCC -3'

Sequencing Primer
(F):5'- GAGTTACTGCCACACCCACCATAG -3'
(R):5'- GTGCTTTCCACAGTACTAGGTAC -3'

Posted On

2021-07-15