Mutagenetix > Incidental Mutation

Incidental Mutation 'R9786:Foxd2'

734320

Institutional Source

Beutler Lab

Gene Symbol

Foxd2

Ensembl Gene

ENSMUSG00000055210

Gene Name

forkhead box D2

Synonyms

Mf2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

R9786 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114906282-114908873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114907653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 390 (T390K)

Ref Sequence

ENSEMBL: ENSMUSP00000066868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068654]

AlphaFold

O35392

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068654
AA Change: T390K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066868
Gene: ENSMUSG00000055210
AA Change: T390K

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
low complexity region	31	37	N/A	INTRINSIC
low complexity region	57	73	N/A	INTRINSIC
low complexity region	82	126	N/A	INTRINSIC
FH	127	217	1.01e-60	SMART
low complexity region	229	259	N/A	INTRINSIC
low complexity region	263	304	N/A	INTRINSIC
low complexity region	310	351	N/A	INTRINSIC
low complexity region	365	384	N/A	INTRINSIC
low complexity region	392	404	N/A	INTRINSIC
low complexity region	416	444	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit renal abnormalities including kidney hypoplasia and hydroureter. Penetrance is reduced, and dependent upon the genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,742,684	D441N	possibly damaging	Het
A4gnt	T	A	9: 99,620,483	M232K	possibly damaging	Het
Abcc1	T	C	16: 14,405,063	S243P	probably damaging	Het
Acsl1	T	C	8: 46,521,449	Y320H	probably damaging	Het
Adam11	A	G	11: 102,762,264	S61G	probably benign	Het
Adamts1	G	A	16: 85,795,414	T965I	probably benign	Het
Adcyap1r1	T	A	6: 55,479,197	M190K	probably damaging	Het
Ankrd2	T	A	19: 42,044,919	L300Q		Het
Ankrd27	A	T	7: 35,591,869	Q30L	possibly damaging	Het
Atp8b5	T	A	4: 43,305,798	I114K	probably damaging	Het
Atrn	A	T	2: 130,944,889	I205F	probably damaging	Het
BC035947	A	G	1: 78,511,924		probably benign	Het
Boc	C	T	16: 44,491,329	R677H		Het
D3Ertd254e	T	A	3: 36,165,704	C625*	probably null	Het
Dpysl3	G	T	18: 43,329,857	T485K	probably damaging	Het
Esyt3	T	C	9: 99,311,985	D867G	possibly damaging	Het
Fam178b	G	A	1: 36,564,436	T478I	probably damaging	Het
Fam26f	A	G	10: 34,127,647	F88S	probably benign	Het
Furin	A	G	7: 80,390,897	V731A	probably benign	Het
Gm6583	T	A	5: 112,355,073	E255V	probably benign	Het
Grin2a	T	A	16: 9,653,602	I601F	possibly damaging	Het
Hat1	G	A	2: 71,420,615	R169Q	possibly damaging	Het
Ighe	G	C	12: 113,273,231	Q6E		Het
Ighv8-2	T	C	12: 114,462,559	I31V	probably benign	Het
Klk1	A	G	7: 44,228,680	D120G	probably damaging	Het
Kmt2e	A	G	5: 23,497,984	D1054G	probably benign	Het
Lamp5	A	T	2: 136,069,078	I244F	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mfsd4b1	T	C	10: 40,002,869	E344G	probably damaging	Het
Mns1	A	G	9: 72,439,274	K13R	probably benign	Het
Mrpl43	C	T	19: 45,005,907	S91N	probably benign	Het
Mtbp	T	C	15: 55,617,636	S706P	probably benign	Het
Nelfb	A	T	2: 25,205,133	V348D	probably damaging	Het
Olfr1049	G	A	2: 86,255,084	S203L	probably benign	Het
Olfr281	T	C	15: 98,456,832	I174T	possibly damaging	Het
Olfr355	T	A	2: 36,927,404	K237*	probably null	Het
Olfr497	A	T	7: 108,422,717	I49F	probably benign	Het
Olfr835	C	T	9: 19,035,945	A274V	possibly damaging	Het
Pde6c	T	C	19: 38,151,561	I324T	possibly damaging	Het
Phlpp2	T	A	8: 109,934,023	L770*	probably null	Het
Pik3c2b	T	A	1: 133,091,600	F1029I	possibly damaging	Het
Rfx2	A	T	17: 56,780,890	S500R	probably benign	Het
Sarm1	T	C	11: 78,474,917	M761V	probably benign	Het
Serpina1a	A	G	12: 103,855,881	L264P	possibly damaging	Het
Slc37a1	G	T	17: 31,337,991	G377V	probably damaging	Het
Slc38a4	T	A	15: 97,008,497	M364L	probably damaging	Het
Slc7a15	A	G	12: 8,530,280	F384S	probably benign	Het
Smyd4	T	C	11: 75,390,799	V366A	probably benign	Het
Spata31d1b	T	A	13: 59,718,341	V1101D	possibly damaging	Het
Stab2	C	A	10: 86,922,133	M1090I	probably benign	Het
Tex15	C	T	8: 33,572,429	T903I	probably damaging	Het
Tgds	A	T	14: 118,130,637	Y41*	probably null	Het
Tle4	G	T	19: 14,517,940	H142N	probably benign	Het
Tlx2	T	C	6: 83,069,293		probably null	Het
Tmem151a	C	G	19: 5,081,841	A446P	probably damaging	Het
Tmem205	A	T	9: 21,921,200	D138E	probably damaging	Het
Tmem57	A	T	4: 134,830,682	Y173*	probably null	Het
Tmprss9	A	G	10: 80,898,208	K1009E	unknown	Het
Tnk2	T	A	16: 32,680,057	C729*	probably null	Het
Trim46	T	A	3: 89,235,092	D696V	probably damaging	Het
Tuba3b	G	A	6: 145,618,756	R84Q	probably benign	Het
Unc119b	C	T	5: 115,125,462	D228N	probably damaging	Het
Usp17la	A	G	7: 104,861,657	T490A	probably benign	Het
Zfp687	C	T	3: 95,012,457	M1I	probably null	Het
Zfp729a	T	C	13: 67,620,509	T534A	possibly damaging	Het
Zfp985	A	T	4: 147,583,590	H305L	probably benign	Het
Zscan10	C	T	17: 23,609,356	Q291*	probably null	Het

Other mutations in Foxd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1168:Foxd2	UTSW	4	114907678	missense	possibly damaging	0.85
R1183:Foxd2	UTSW	4	114907465	missense	possibly damaging	0.68
R1479:Foxd2	UTSW	4	114907918	missense	unknown
R3885:Foxd2	UTSW	4	114908286	missense	unknown
R3886:Foxd2	UTSW	4	114908286	missense	unknown
R3887:Foxd2	UTSW	4	114908286	missense	unknown
R3888:Foxd2	UTSW	4	114908286	missense	unknown
R3889:Foxd2	UTSW	4	114908286	missense	unknown
R4874:Foxd2	UTSW	4	114907571	missense	possibly damaging	0.53
R5646:Foxd2	UTSW	4	114908635	missense	unknown
R6126:Foxd2	UTSW	4	114908505	missense	unknown
R7235:Foxd2	UTSW	4	114908271	missense	unknown
R7749:Foxd2	UTSW	4	114907812	missense	unknown
R9697:Foxd2	UTSW	4	114908487	missense	unknown
R9715:Foxd2	UTSW	4	114907998	missense	unknown
Z1177:Foxd2	UTSW	4	114907887	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAGCATGGCCAAGACTTG -3'
(R):5'- TTCGACAACGGCAGTTTCCTG -3'

Sequencing Primer
(F):5'- GATCCCGGAGAACCGTC -3'
(R):5'- TTACGGCTACGGCTACGG -3'

Posted On

2022-11-14