Mutagenetix > Incidental Mutation

Incidental Mutation 'R5259:Gdf2'

401321

Institutional Source

Beutler Lab

Gene Symbol

Gdf2

Ensembl Gene

ENSMUSG00000072625

Gene Name

growth differentiation factor 2

Synonyms

Bmp9

MMRRC Submission

042856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5259 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33941039-33947198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33944831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 170 (V170A)

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 benign
Transcript: ENSMUST00000100720
AA Change: V170A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000098286
Gene: ENSMUSG00000072625
AA Change: V170A

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

0.0818

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (68/68)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	C	8: 45,962,336 (GRCm38)	E211G	probably benign	Het
2310035C23Rik	A	G	1: 105,721,376 (GRCm38)	S747G	probably benign	Het
Abhd18	A	C	3: 40,916,890 (GRCm38)	T50P	probably damaging	Het
Adam5	T	A	8: 24,810,834 (GRCm38)	L226F	possibly damaging	Het
Adi1	T	C	12: 28,675,545 (GRCm38)		probably benign	Het
Apc	T	C	18: 34,314,290 (GRCm38)	V1379A	probably benign	Het
Atp13a4	G	A	16: 29,456,610 (GRCm38)	T352M	probably damaging	Het
Baat	T	A	4: 49,490,070 (GRCm38)	N338I	probably benign	Het
Bdnf	A	G	2: 109,723,982 (GRCm38)	T234A	probably benign	Het
Catsperd	A	C	17: 56,660,235 (GRCm38)	T539P	possibly damaging	Het
Cd109	A	T	9: 78,710,152 (GRCm38)	T1311S	probably benign	Het
Ceacam18	T	C	7: 43,637,112 (GRCm38)		probably null	Het
Chsy3	T	A	18: 59,410,246 (GRCm38)	S819T	probably damaging	Het
Col4a4	G	T	1: 82,453,893 (GRCm38)	R1557S	unknown	Het
Ddx18	A	G	1: 121,567,789 (GRCm38)		probably null	Het
Depdc5	C	T	5: 32,938,291 (GRCm38)	P824L	probably damaging	Het
Fam13c	C	G	10: 70,441,063 (GRCm38)	A17G	probably benign	Het
Fermt1	T	C	2: 132,906,765 (GRCm38)	Y646C	probably damaging	Het
Fra10ac1	A	G	19: 38,199,662 (GRCm38)	S229P	probably benign	Het
Gbp8	A	T	5: 105,050,979 (GRCm38)	H23Q	probably benign	Het
Gm15723	T	C	10: 114,816,817 (GRCm38)		noncoding transcript	Het
Gm4788	C	T	1: 139,740,495 (GRCm38)	C300Y	probably damaging	Het
Gm5415	A	T	1: 32,545,517 (GRCm38)	C437*	probably null	Het
Gm815	G	A	19: 26,886,406 (GRCm38)	V16I	unknown	Het
Ighv1-75	T	A	12: 115,834,177 (GRCm38)	K42*	probably null	Het
Isx	A	G	8: 74,892,845 (GRCm38)	T222A	probably benign	Het
Itgax	G	A	7: 128,148,278 (GRCm38)	D1018N	probably damaging	Het
Kcnc4	A	G	3: 107,448,085 (GRCm38)	F349S	probably damaging	Het
Lama3	A	C	18: 12,465,508 (GRCm38)	S991R	probably damaging	Het
Larp4b	C	T	13: 9,158,184 (GRCm38)	A398V	probably damaging	Het
Ltbp1	A	G	17: 75,363,362 (GRCm38)	N1466S	probably benign	Het
Metrn	A	T	17: 25,796,540 (GRCm38)	L67Q	probably damaging	Het
Morc1	G	A	16: 48,630,769 (GRCm38)	R937Q	probably benign	Het
Mta3	A	G	17: 83,804,574 (GRCm38)	Y577C	probably damaging	Het
Nalcn	A	G	14: 123,515,651 (GRCm38)	F308L	possibly damaging	Het
Nat8	A	T	6: 85,830,891 (GRCm38)	S87T	probably benign	Het
Olfr319	A	G	11: 58,701,952 (GRCm38)	N84D	probably benign	Het
Olfr319	A	C	11: 58,701,953 (GRCm38)	N84T	possibly damaging	Het
Olfr857	A	G	9: 19,712,813 (GRCm38)		probably null	Het
Oplah	A	T	15: 76,301,210 (GRCm38)		probably null	Het
Pcdh15	A	T	10: 74,396,372 (GRCm38)	I668L	possibly damaging	Het
Pecr	A	G	1: 72,277,285 (GRCm38)		probably null	Het
Plxna4	T	C	6: 32,517,021 (GRCm38)	E220G	possibly damaging	Het
Pnmal2	A	G	7: 16,945,274 (GRCm38)	K61R	unknown	Het
Prl8a6	C	T	13: 27,436,196 (GRCm38)	W81*	probably null	Het
Rab33b	C	T	3: 51,484,612 (GRCm38)		probably benign	Het
Rbm33	T	A	5: 28,352,774 (GRCm38)		probably null	Het
Reln	C	T	5: 22,103,397 (GRCm38)	V325M	possibly damaging	Het
Rheb	A	C	5: 24,803,745 (GRCm38)	D158E	probably benign	Het
Rhebl1	T	A	15: 98,880,583 (GRCm38)		probably benign	Het
Rmdn2	T	A	17: 79,668,017 (GRCm38)	Y312N	probably damaging	Het
Scamp1	T	G	13: 94,232,086 (GRCm38)	N58T	probably benign	Het
Slc35a1	C	T	4: 34,683,322 (GRCm38)	V53M	probably benign	Het
Slc35f3	A	T	8: 126,389,133 (GRCm38)	L266F	probably damaging	Het
Slc45a2	C	T	15: 11,027,785 (GRCm38)	T480I	probably damaging	Het
Ticrr	T	A	7: 79,694,723 (GRCm38)	S1445R	probably benign	Het
Ttc23l	T	C	15: 10,515,150 (GRCm38)	N381D	probably damaging	Het
Usp17ld	T	A	7: 103,250,574 (GRCm38)	K384*	probably null	Het
Vmn1r20	T	A	6: 57,432,065 (GRCm38)	Y125*	probably null	Het
Zfp738	G	T	13: 67,669,686 (GRCm38)	Q729K	probably benign	Het
Zfp770	T	A	2: 114,197,193 (GRCm38)	M132L	probably benign	Het

Other mutations in Gdf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0557:Gdf2	UTSW	14	33,941,221 (GRCm38)	missense	probably damaging	1.00
R0631:Gdf2	UTSW	14	33,941,221 (GRCm38)	missense	probably damaging	1.00
R0739:Gdf2	UTSW	14	33,941,221 (GRCm38)	missense	probably damaging	1.00
R2142:Gdf2	UTSW	14	33,945,241 (GRCm38)	missense	probably benign
R2292:Gdf2	UTSW	14	33,945,188 (GRCm38)	missense	possibly damaging	0.60
R3615:Gdf2	UTSW	14	33,944,957 (GRCm38)	missense	probably damaging	1.00
R3616:Gdf2	UTSW	14	33,944,957 (GRCm38)	missense	probably damaging	1.00
R3974:Gdf2	UTSW	14	33,944,834 (GRCm38)	missense	probably damaging	0.97
R3975:Gdf2	UTSW	14	33,944,834 (GRCm38)	missense	probably damaging	0.97
R3976:Gdf2	UTSW	14	33,944,834 (GRCm38)	missense	probably damaging	0.97
R4665:Gdf2	UTSW	14	33,945,451 (GRCm38)	missense	probably damaging	1.00
R5007:Gdf2	UTSW	14	33,944,906 (GRCm38)	missense	probably benign	0.02
R5227:Gdf2	UTSW	14	33,941,494 (GRCm38)	critical splice donor site	probably null
R5253:Gdf2	UTSW	14	33,945,307 (GRCm38)	missense	probably benign	0.14
R6286:Gdf2	UTSW	14	33,945,100 (GRCm38)	missense	probably damaging	1.00
R7644:Gdf2	UTSW	14	33,944,890 (GRCm38)	missense	probably benign	0.00
R8472:Gdf2	UTSW	14	33,944,840 (GRCm38)	missense	probably damaging	1.00
R9067:Gdf2	UTSW	14	33,941,454 (GRCm38)	missense	probably benign	0.20
R9525:Gdf2	UTSW	14	33,945,607 (GRCm38)	makesense	probably null
Z1177:Gdf2	UTSW	14	33,945,317 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAGATGCTATATCGACAGCTG -3'
(R):5'- AACCTGGAGGGACACTGATG -3'

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

Posted On

2016-07-06