Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Foxp2'

584540

Institutional Source

Beutler Lab

Gene Symbol

Foxp2

Ensembl Gene

ENSMUSG00000029563

Gene Name

forkhead box P2

Synonyms

D0Kist7, 2810043D05Rik

MMRRC Submission

045622-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14901348-15441976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15437881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 669 (S669L)

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: S669L

SMART Domains

Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: S669L

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: S648L

SMART Domains

Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: S648L

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: S694L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: S694L

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: S669L

SMART Domains

Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: S669L

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

Meta Mutation Damage Score

0.0643

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,648,545 (GRCm39)	L649P	probably damaging	Het
Acad10	T	C	5: 121,777,318 (GRCm39)	Y371C	probably damaging	Het
Avp	A	G	2: 130,423,098 (GRCm39)	V71A	probably damaging	Het
Bhmt	C	T	13: 93,756,589 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,179,738 (GRCm39)	E874G	probably damaging	Het
Capn5	A	G	7: 97,773,231 (GRCm39)	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348 (GRCm39)	Q292L	probably benign	Het
Cd96	T	G	16: 45,872,384 (GRCm39)	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,310,566 (GRCm39)	A153V	probably damaging	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Dmbt1	A	G	7: 130,706,597 (GRCm39)	N1372S	unknown	Het
Dntt	A	T	19: 41,017,926 (GRCm39)	R17W	probably damaging	Het
Erich3	G	T	3: 154,439,137 (GRCm39)	A260S	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Grid2	A	G	6: 64,053,925 (GRCm39)	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,749,394 (GRCm39)	G603S	possibly damaging	Het
Hexb	C	T	13: 97,334,681 (GRCm39)	R30Q	probably benign	Het
Homer3	A	T	8: 70,742,774 (GRCm39)	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,790,151 (GRCm39)	E15G	probably benign	Het
Manea	A	T	4: 26,327,986 (GRCm39)	F352I	probably damaging	Het
Mcf2l	T	A	8: 13,047,268 (GRCm39)	M210K	probably benign	Het
Morc3	T	C	16: 93,667,824 (GRCm39)	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,155,571 (GRCm39)	V894A	possibly damaging	Het
Myh4	T	A	11: 67,147,221 (GRCm39)	M1622K	probably damaging	Het
Myrf	A	G	19: 10,206,240 (GRCm39)	F59L	probably benign	Het
Ndst3	G	T	3: 123,350,709 (GRCm39)		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nos3	A	T	5: 24,586,715 (GRCm39)	D986V	possibly damaging	Het
Nrp1	G	A	8: 129,158,468 (GRCm39)	A252T	probably damaging	Het
Nup205	G	T	6: 35,178,934 (GRCm39)	R668L	probably damaging	Het
Or51aa2	T	C	7: 103,188,363 (GRCm39)	Y26C	probably damaging	Het
Or5af2	T	A	11: 58,707,886 (GRCm39)	D17E	probably benign	Het
Or5p56	G	A	7: 107,589,682 (GRCm39)	V37I	probably benign	Het
Pcdhga1	T	A	18: 37,882,735 (GRCm39)		probably null	Het
Pck1	A	G	2: 172,998,860 (GRCm39)	I373V	probably benign	Het
Pde8b	T	C	13: 95,223,258 (GRCm39)	N227S	probably benign	Het
Pianp	T	G	6: 124,976,214 (GRCm39)	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2r1	A	T	2: 60,353,243 (GRCm39)	N239K	possibly damaging	Het
Pls1	T	A	9: 95,669,140 (GRCm39)	N27I	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prss56	A	G	1: 87,111,261 (GRCm39)	D16G	probably benign	Het
Rad17	A	T	13: 100,769,794 (GRCm39)	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,326,548 (GRCm39)	E173G	probably damaging	Het
Retreg3	C	T	11: 100,997,216 (GRCm39)	R88H	possibly damaging	Het
Rhag	G	A	17: 41,139,286 (GRCm39)	G74R	probably damaging	Het
Rybp	A	G	6: 100,209,220 (GRCm39)	S201P	possibly damaging	Het
S100a10	G	A	3: 93,471,602 (GRCm39)	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,059,673 (GRCm39)	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,154,539 (GRCm39)	D122G	probably benign	Het
Setdb1	A	G	3: 95,254,076 (GRCm39)	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,198,803 (GRCm39)	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,139,580 (GRCm39)	E266G	probably damaging	Het
Stard9	A	T	2: 120,524,289 (GRCm39)		probably null	Het
Stpg2	A	G	3: 138,924,098 (GRCm39)	Y167C	probably damaging	Het
Tex264	T	C	9: 106,536,335 (GRCm39)	E274G	probably damaging	Het
Tigd2	G	A	6: 59,188,564 (GRCm39)	S477N	probably benign	Het
Urb1	A	G	16: 90,589,752 (GRCm39)	L343P	probably damaging	Het
Vars2	A	T	17: 35,975,680 (GRCm39)	C246S	possibly damaging	Het
Vil1	G	A	1: 74,465,891 (GRCm39)		probably null	Het
Vmn2r61	C	G	7: 41,916,205 (GRCm39)	L273V	not run	Het
Vmn2r-ps158	T	G	7: 42,697,447 (GRCm39)	C835G	probably damaging	Het
Zfp37	C	A	4: 62,110,236 (GRCm39)	G317V	probably damaging	Het
Zfp760	A	G	17: 21,941,872 (GRCm39)	K349R	possibly damaging	Het
Zyx	A	T	6: 42,327,408 (GRCm39)	E69V	probably null	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
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
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'- AGTGCAGCATGTGGAGGTTC -3'
(R):5'- CAGTGATATGTCCCTTCACACTG -3'

Sequencing Primer
(F):5'- CATGTGGAGGTTCATGCACACATAC -3'
(R):5'- CACTGAGGTGTCACAAGTTCG -3'

Posted On

2019-10-17