Mutagenetix > Incidental Mutation

Incidental Mutation 'R3974:Gdf2'

312552

Institutional Source

Beutler Lab

Gene Symbol

Gdf2

Ensembl Gene

ENSMUSG00000072625

Gene Name

growth differentiation factor 2

Synonyms

Bmp9

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3974 (G1)

Quality Score

225

Status

Not 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: 98.5%
10x: 96.9%
20x: 93.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,488 (GRCm39)	I486T	probably damaging	Het
Abca8a	A	T	11: 109,974,328 (GRCm39)	M202K	probably damaging	Het
Abhd4	T	A	14: 54,500,417 (GRCm39)	I117N	probably damaging	Het
Adam23	T	A	1: 63,586,888 (GRCm39)	Y416*	probably null	Het
Cenpe	A	G	3: 134,940,986 (GRCm39)		probably null	Het
Cenph	A	G	13: 100,900,075 (GRCm39)	V151A	probably damaging	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Clca3a1	A	T	3: 144,738,400 (GRCm39)	V36D	probably damaging	Het
Cnbd1	G	A	4: 18,887,693 (GRCm39)	R274C	probably benign	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Dll4	A	G	2: 119,164,573 (GRCm39)	D664G	probably damaging	Het
Ehbp1	C	T	11: 22,087,867 (GRCm39)	A406T	probably benign	Het
Far2	T	A	6: 148,052,252 (GRCm39)	I177N	probably damaging	Het
Flt4	T	G	11: 49,527,567 (GRCm39)	V910G	probably damaging	Het
Fmod	A	G	1: 133,968,496 (GRCm39)	R179G	probably benign	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Grik2	A	T	10: 49,298,750 (GRCm39)	Y37N	probably damaging	Het
Grn	T	C	11: 102,327,165 (GRCm39)	V559A	probably damaging	Het
Lrrc37	A	T	11: 103,509,927 (GRCm39)		probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Myo5b	T	C	18: 74,767,552 (GRCm39)	Y287H	probably damaging	Het
Nbeal2	T	C	9: 110,462,914 (GRCm39)	T1350A	probably damaging	Het
Nfkbiz	T	C	16: 55,638,799 (GRCm39)	I220M	probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Omg	T	A	11: 79,393,224 (GRCm39)	E211D	probably benign	Het
Or52ab7	T	G	7: 102,978,285 (GRCm39)	D197E	probably damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,901 (GRCm39)	T404A	possibly damaging	Het
Plcl1	T	A	1: 55,737,374 (GRCm39)	M905K	probably benign	Het
Plod2	G	T	9: 92,480,672 (GRCm39)	G422*	probably null	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
Ptprq	T	G	10: 107,547,923 (GRCm39)	K158N	possibly damaging	Het
Rimbp2	A	G	5: 128,874,862 (GRCm39)	V243A	probably damaging	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Rtn4	C	T	11: 29,657,505 (GRCm39)	T553I	probably damaging	Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Serpina1f	C	A	12: 103,659,830 (GRCm39)	G151*	probably null	Het
Sis	T	C	3: 72,850,968 (GRCm39)	T577A	probably damaging	Het
Slco1a1	A	T	6: 141,854,819 (GRCm39)	S611T	probably benign	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Syne1	T	C	10: 4,993,630 (GRCm39)	D8370G	probably benign	Het
Tigd4	G	A	3: 84,502,585 (GRCm39)	A501T	possibly damaging	Het
Tjp1	A	T	7: 64,947,387 (GRCm39)	C1724*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tyw5	A	T	1: 57,430,687 (GRCm39)	D165E	probably damaging	Het
U2af2	T	A	7: 5,072,438 (GRCm39)		probably null	Het
Ube3b	T	A	5: 114,550,491 (GRCm39)	D839E	probably benign	Het
Ush2a	A	G	1: 188,113,698 (GRCm39)	D639G	probably benign	Het
Veph1	A	T	3: 66,065,648 (GRCm39)	M473K	probably benign	Het
Vmn2r72	A	T	7: 85,399,017 (GRCm39)	N445K	probably damaging	Het
Vps37d	T	C	5: 135,105,393 (GRCm39)	M77V	probably null	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
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'- GATGCTATATCGACAGCTGCC -3'
(R):5'- TTTGGAACCTGGAGGGACAC -3'

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

Posted On

2015-04-30