Mutagenetix > Incidental Mutation

Incidental Mutation 'R0557:Gdf2'

45674

Institutional Source

Beutler Lab

Gene Symbol

Gdf2

Ensembl Gene

ENSMUSG00000072625

Gene Name

growth differentiation factor 2

Synonyms

Bmp9

MMRRC Submission

038749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0557 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33662996-33669155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33663178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 24 (P24L)

Ref Sequence

ENSEMBL: ENSMUSP00000098286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100720] [ENSMUST00000168727]

AlphaFold

Q9WV56

PDB Structure

Pro-bone morphogenetic protein 9 [X-RAY DIFFRACTION]
non-latent pro-bone morphogenetic protein 9 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000100720
AA Change: P24L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098286
Gene: ENSMUSG00000072625
AA Change: P24L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	39	50	N/A	INTRINSIC
Pfam:TGFb_propeptide	55	256	8.5e-21	PFAM
TGFB	326	428	3.83e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168727

SMART Domains

Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC
TGFB	374	476	1e-50	SMART

Meta Mutation Damage Score

0.3154

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Homozygous null mice exhibit malformations of the vasculature and skeleton. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show arteriovenous malformations, skeletal anomalies, and abnormal retinal vasculature after anti-BMP10-antibody treatment. Homozygotes for a different null allele show abnormal retinal and tracheal vasculature and tracheal lymphatic vessels after anti-BMP10 treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,903,519 (GRCm39)	H266Y	probably damaging	Het
Abi3bp	C	T	16: 56,488,750 (GRCm39)	R1294C	probably damaging	Het
Acot3	T	C	12: 84,105,630 (GRCm39)	Y366H	probably damaging	Het
Ago1	A	G	4: 126,353,817 (GRCm39)	V254A	probably benign	Het
Ahnak	T	A	19: 8,979,308 (GRCm39)	D197E	probably benign	Het
Aldh1b1	A	T	4: 45,802,647 (GRCm39)	T62S	probably benign	Het
Alox12e	T	C	11: 70,212,274 (GRCm39)	R135G	possibly damaging	Het
Amn1	T	C	6: 149,072,503 (GRCm39)	Y78C	possibly damaging	Het
Ankmy2	G	A	12: 36,237,765 (GRCm39)	S288N	probably benign	Het
Ano3	A	T	2: 110,693,297 (GRCm39)		probably null	Het
Arfgap3	T	C	15: 83,187,386 (GRCm39)	D491G	probably damaging	Het
Arhgap15	T	C	2: 44,006,629 (GRCm39)	S249P	possibly damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
Cabin1	A	G	10: 75,562,751 (GRCm39)	Y12H	probably damaging	Het
Cdkn2aip	T	C	8: 48,165,977 (GRCm39)	T110A	probably damaging	Het
Cemip2	C	T	19: 21,789,267 (GRCm39)	A567V	probably benign	Het
Chchd6	A	G	6: 89,551,569 (GRCm39)	S31P	probably damaging	Het
Chrna3	A	G	9: 54,923,149 (GRCm39)	Y220H	probably damaging	Het
Ctu1	A	G	7: 43,326,583 (GRCm39)	D414G	unknown	Het
Cxxc1	C	T	18: 74,351,845 (GRCm39)	R241W	possibly damaging	Het
Cyp3a16	A	G	5: 145,406,398 (GRCm39)	I18T	unknown	Het
Dip2c	A	T	13: 9,603,495 (GRCm39)	I405F	possibly damaging	Het
Disp3	A	T	4: 148,325,861 (GRCm39)	M1299K	possibly damaging	Het
Dnah9	T	G	11: 65,975,492 (GRCm39)	H1519P	probably damaging	Het
Ehd3	C	A	17: 74,136,928 (GRCm39)	Q366K	probably benign	Het
Exosc3	A	T	4: 45,316,957 (GRCm39)	M232K	probably damaging	Het
Fancm	T	C	12: 65,165,216 (GRCm39)		probably null	Het
Fgfr2	A	G	7: 129,820,811 (GRCm39)	V241A	probably damaging	Het
Hars2	T	C	18: 36,924,130 (GRCm39)	I489T	possibly damaging	Het
Ice1	T	C	13: 70,749,310 (GRCm39)	I1945V	probably benign	Het
Il33	A	C	19: 29,932,036 (GRCm39)	N143T	probably damaging	Het
Ilvbl	G	A	10: 78,419,321 (GRCm39)	W313*	probably null	Het
Insyn2a	A	G	7: 134,520,434 (GRCm39)	L32P	probably damaging	Het
Isca1	G	T	13: 59,904,788 (GRCm39)	Q91K	possibly damaging	Het
Kcnh5	T	A	12: 75,161,323 (GRCm39)	Y195F	probably damaging	Het
Lama4	T	G	10: 38,964,393 (GRCm39)	I1355S	probably benign	Het
Lonrf1	T	C	8: 36,697,574 (GRCm39)	D470G	probably benign	Het
Mak	A	G	13: 41,193,135 (GRCm39)	Y446H	probably benign	Het
Mki67	C	T	7: 135,300,990 (GRCm39)	S1348N	possibly damaging	Het
Mpzl3	A	G	9: 44,977,806 (GRCm39)	Y138C	probably damaging	Het
Myh8	T	C	11: 67,192,624 (GRCm39)	L1501P	possibly damaging	Het
Naa35	A	G	13: 59,775,778 (GRCm39)	E552G	probably damaging	Het
Ncor2	A	T	5: 125,183,369 (GRCm39)	L200*	probably null	Het
Nrm	T	C	17: 36,175,524 (GRCm39)	V210A	probably damaging	Het
Nt5e	T	A	9: 88,248,519 (GRCm39)	N405K	probably damaging	Het
Or1j4	T	A	2: 36,740,760 (GRCm39)	I234N	possibly damaging	Het
Or1o11	T	A	17: 37,756,712 (GRCm39)	I100N	probably damaging	Het
Orc2	T	C	1: 58,508,846 (GRCm39)	S434G	probably damaging	Het
Plcb4	G	A	2: 135,796,269 (GRCm39)	V388I	probably damaging	Het
Ppm1l	A	G	3: 69,405,234 (GRCm39)	D177G	probably benign	Het
Prl8a2	A	T	13: 27,536,875 (GRCm39)	R165*	probably null	Het
Ptbp3	G	A	4: 59,517,684 (GRCm39)	R66*	probably null	Het
Pten	A	G	19: 32,795,290 (GRCm39)	T286A	probably benign	Het
Rac2	C	T	15: 78,449,174 (GRCm39)	V113M	probably damaging	Het
Rai1	C	T	11: 60,081,321 (GRCm39)	T1795I	probably benign	Het
Ros1	T	G	10: 51,961,359 (GRCm39)	K1792Q	possibly damaging	Het
Sema6a	A	G	18: 47,382,567 (GRCm39)	V660A	probably benign	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc26a5	A	G	5: 22,024,762 (GRCm39)	S441P	probably damaging	Het
Slc27a3	A	G	3: 90,294,163 (GRCm39)	L462P	probably damaging	Het
Spag5	T	A	11: 78,205,037 (GRCm39)	S607R	probably damaging	Het
Spata18	A	T	5: 73,809,013 (GRCm39)	N29Y	probably damaging	Het
Spata20	C	T	11: 94,376,048 (GRCm39)	R22H	probably benign	Het
Spsb2	A	C	6: 124,787,355 (GRCm39)	Y263S	probably damaging	Het
Sptbn4	C	A	7: 27,107,753 (GRCm39)	E885*	probably null	Het
Syne2	T	C	12: 75,976,075 (GRCm39)	I1175T	probably benign	Het
Tmem209	A	C	6: 30,501,913 (GRCm39)	H253Q	probably damaging	Het
Trip12	A	T	1: 84,702,468 (GRCm39)	D788E	probably damaging	Het
Usp34	T	C	11: 23,353,848 (GRCm39)	S1509P	probably damaging	Het
Utp20	A	T	10: 88,584,173 (GRCm39)	D2661E	probably damaging	Het
Vars1	C	A	17: 35,223,960 (GRCm39)	P264Q	possibly damaging	Het
Vmn2r66	T	G	7: 84,643,972 (GRCm39)	S813R	probably damaging	Het
Wipf2	C	A	11: 98,782,915 (GRCm39)	Q114K	possibly damaging	Het
Wnt5b	G	T	6: 119,410,779 (GRCm39)	H220Q	probably damaging	Het
Xirp2	A	G	2: 67,346,695 (GRCm39)	T2979A	probably benign	Het
Zfyve9	A	G	4: 108,531,708 (GRCm39)	V408A	probably damaging	Het
Zzef1	T	C	11: 72,808,556 (GRCm39)	S2744P	probably damaging	Het

Other mutations in Gdf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0631:Gdf2	UTSW	14	33,663,178 (GRCm39)	missense	probably damaging	1.00
R0739:Gdf2	UTSW	14	33,663,178 (GRCm39)	missense	probably damaging	1.00
R2142:Gdf2	UTSW	14	33,667,198 (GRCm39)	missense	probably benign
R2292:Gdf2	UTSW	14	33,667,145 (GRCm39)	missense	possibly damaging	0.60
R3615:Gdf2	UTSW	14	33,666,914 (GRCm39)	missense	probably damaging	1.00
R3616:Gdf2	UTSW	14	33,666,914 (GRCm39)	missense	probably damaging	1.00
R3974:Gdf2	UTSW	14	33,666,791 (GRCm39)	missense	probably damaging	0.97
R3975:Gdf2	UTSW	14	33,666,791 (GRCm39)	missense	probably damaging	0.97
R3976:Gdf2	UTSW	14	33,666,791 (GRCm39)	missense	probably damaging	0.97
R4665:Gdf2	UTSW	14	33,667,408 (GRCm39)	missense	probably damaging	1.00
R5007:Gdf2	UTSW	14	33,666,863 (GRCm39)	missense	probably benign	0.02
R5227:Gdf2	UTSW	14	33,663,451 (GRCm39)	critical splice donor site	probably null
R5253:Gdf2	UTSW	14	33,667,264 (GRCm39)	missense	probably benign	0.14
R5259:Gdf2	UTSW	14	33,666,788 (GRCm39)	missense	probably benign	0.01
R6286:Gdf2	UTSW	14	33,667,057 (GRCm39)	missense	probably damaging	1.00
R7644:Gdf2	UTSW	14	33,666,847 (GRCm39)	missense	probably benign	0.00
R8472:Gdf2	UTSW	14	33,666,797 (GRCm39)	missense	probably damaging	1.00
R9067:Gdf2	UTSW	14	33,663,411 (GRCm39)	missense	probably benign	0.20
R9525:Gdf2	UTSW	14	33,667,564 (GRCm39)	makesense	probably null
Z1177:Gdf2	UTSW	14	33,667,274 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGAGCTGCCTGAGATAAGAGGTCC -3'
(R):5'- AATGCCGCTGAGGTTAAGGCTG -3'

Sequencing Primer
(F):5'- AGGTCCGAGCAGAGCATC -3'
(R):5'- TGCGTAGGAAATCCACCTTC -3'

Posted On

2013-06-11