Mutagenetix > Incidental Mutation

Incidental Mutation 'R3976:Gdf2'

312656

Institutional Source

Beutler Lab

Gene Symbol

Gdf2

Ensembl Gene

ENSMUSG00000072625

Gene Name

growth differentiation factor 2

Synonyms

Bmp9

MMRRC Submission

040842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3976 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33662996-33669155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33666791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 171 (V171D)

Ref Sequence

ENSEMBL: ENSMUSP00000098286 (fasta)

Gene Model

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

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: V171D

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098286
Gene: ENSMUSG00000072625
AA Change: V171D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,039,615 (GRCm39)	D466G	probably benign	Het
Asb4	A	T	6: 5,390,771 (GRCm39)	M55L	probably benign	Het
Atxn7l1	T	C	12: 33,375,954 (GRCm39)	S10P	probably damaging	Het
Bola3	T	C	6: 83,328,249 (GRCm39)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,255,134 (GRCm39)		probably null	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Cyb5r3	A	G	15: 83,044,330 (GRCm39)	V180A	possibly damaging	Het
Dglucy	A	T	12: 100,807,648 (GRCm39)	T186S	probably benign	Het
Eml5	A	T	12: 98,768,724 (GRCm39)		probably benign	Het
Fam90a1a	G	A	8: 22,451,432 (GRCm39)	D98N	probably damaging	Het
Fbxo16	T	A	14: 65,524,606 (GRCm39)	L42Q	probably damaging	Het
Fbxw16	A	G	9: 109,268,697 (GRCm39)	V231A	probably benign	Het
Fermt3	G	A	19: 6,979,792 (GRCm39)	A447V	possibly damaging	Het
Fignl2	A	G	15: 100,950,467 (GRCm39)	L605P	unknown	Het
Gcsam	T	G	16: 45,440,192 (GRCm39)	N78K	probably damaging	Het
Gm28042	C	T	2: 119,867,237 (GRCm39)	H218Y	probably benign	Het
Herpud2	A	G	9: 25,021,734 (GRCm39)	V304A	probably damaging	Het
Kcnma1	C	T	14: 24,053,815 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,903,530 (GRCm39)	D251G	probably benign	Het
Mapkbp1	T	C	2: 119,852,339 (GRCm39)	V957A	possibly damaging	Het
Mepe	C	T	5: 104,484,944 (GRCm39)	P28L	probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Opn4	C	T	14: 34,319,066 (GRCm39)	R173H	probably benign	Het
Or2k2	A	G	4: 58,785,164 (GRCm39)	L186P	probably damaging	Het
Or4f14	C	T	2: 111,742,951 (GRCm39)	G108D	possibly damaging	Het
Phf8-ps	A	T	17: 33,285,405 (GRCm39)	S466T	probably benign	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Rab18	T	A	18: 6,778,529 (GRCm39)	D53E	probably benign	Het
Rel	A	G	11: 23,692,939 (GRCm39)	S365P	probably benign	Het
Rhbg	C	A	3: 88,151,843 (GRCm39)	G383V	probably damaging	Het
Rnps1-ps	A	T	6: 7,983,149 (GRCm39)		noncoding transcript	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Runx2	T	C	17: 44,920,966 (GRCm39)	T339A	possibly damaging	Het
Ryr3	T	C	2: 112,506,182 (GRCm39)	E3455G	possibly damaging	Het
Serpina1d	A	T	12: 103,734,107 (GRCm39)	S66T	probably benign	Het
Setd3	T	C	12: 108,131,417 (GRCm39)	K3R	possibly damaging	Het
Spg7	A	G	8: 123,806,187 (GRCm39)	D299G	probably damaging	Het
Sptbn5	C	T	2: 119,878,742 (GRCm39)		noncoding transcript	Het
Srcap	A	G	7: 127,148,411 (GRCm39)	T1859A	probably benign	Het
Suox	A	G	10: 128,506,906 (GRCm39)	V374A	probably damaging	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tubal3	C	T	13: 3,982,946 (GRCm39)	S242L	probably benign	Het
Ugt2b1	C	A	5: 87,065,534 (GRCm39)	V502L	probably benign	Het

Other mutations in Gdf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0557:Gdf2	UTSW	14	33,663,178 (GRCm39)	missense	probably damaging	1.00
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
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'- TTTCAGATGCTATATCGACAGCTG -3'
(R):5'- AACCTGGAGGGACACTGATG -3'

Sequencing Primer
(F):5'- TATATCGACAGCTGCCACGGAG -3'
(R):5'- ATGTCCAGTGTGTCACAGC -3'

Posted On

2015-04-30