Mutagenetix > Incidental Mutation

Incidental Mutation 'R1962:Gdf5'

216941

Institutional Source

Beutler Lab

Gene Symbol

Gdf5

Ensembl Gene

ENSMUSG00000038259

Gene Name

growth differentiation factor 5

Synonyms

cartilage-derived morphogenetic protein-1, CDMP-1, brp, bp

MMRRC Submission

039976-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.493) question?

Stock #

R1962 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

155782943-155787204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155783672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 427 (C427R)

Ref Sequence

ENSEMBL: ENSMUSP00000048079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040162] [ENSMUST00000109629]

AlphaFold

P43027

Predicted Effect

probably damaging
Transcript: ENSMUST00000040162
AA Change: C427R

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

SMART Domains

Protein: ENSMUSP00000048079
Gene: ENSMUSG00000038259
AA Change: C427R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:TGFb_propeptide	133	343	2.4e-16	PFAM
TGFB	394	495	8.92e-66	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109629

SMART Domains

Protein: ENSMUSP00000105257
Gene: ENSMUSG00000078972

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	89	113	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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 the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mice with a mutation in this gene exhibit enhanced tooth enamel formation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,940,468 (GRCm39)	I354M	probably damaging	Het
Abca8a	T	C	11: 109,917,731 (GRCm39)		probably null	Het
Abca8b	T	C	11: 109,870,724 (GRCm39)	R143G	probably benign	Het
Actn4	T	C	7: 28,594,047 (GRCm39)	D840G	probably damaging	Het
Agpat5	T	C	8: 18,928,026 (GRCm39)	L197P	probably damaging	Het
Akr1d1	T	C	6: 37,512,983 (GRCm39)	V93A	probably benign	Het
Arap2	T	C	5: 62,834,007 (GRCm39)	K820R	possibly damaging	Het
Armc9	T	A	1: 86,135,696 (GRCm39)	C551S	probably damaging	Het
Atg7	T	C	6: 114,683,191 (GRCm39)	L418P	probably damaging	Het
Awat2	G	A	X: 99,448,165 (GRCm39)	P148S	probably damaging	Het
Brms1	C	T	19: 5,096,027 (GRCm39)	R34W	probably damaging	Het
Cbx2	A	G	11: 118,919,395 (GRCm39)	Q320R	possibly damaging	Het
Ccdc106	G	A	7: 5,062,539 (GRCm39)	D11N	possibly damaging	Het
Ccdc30	C	T	4: 119,196,988 (GRCm39)	R426Q	probably benign	Het
Cdc42bpg	T	A	19: 6,356,885 (GRCm39)	V47E	probably damaging	Het
Cep170b	C	T	12: 112,704,495 (GRCm39)	S751L	probably damaging	Het
Cfap46	A	T	7: 139,246,957 (GRCm39)	L328Q	probably damaging	Het
Crtc3	A	G	7: 80,239,679 (GRCm39)	F558L	probably damaging	Het
Cyp2d34	A	G	15: 82,502,809 (GRCm39)	V139A	probably benign	Het
Dchs1	A	G	7: 105,413,408 (GRCm39)	Y1136H	probably damaging	Het
Dhrs4	T	C	14: 55,725,060 (GRCm39)	V185A	probably damaging	Het
Dnah7b	A	G	1: 46,281,263 (GRCm39)	K2775E	possibly damaging	Het
Dst	C	A	1: 34,230,097 (GRCm39)	S2238R	possibly damaging	Het
Duox2	T	C	2: 122,127,853 (GRCm39)		probably null	Het
Dusp16	G	T	6: 134,695,099 (GRCm39)	Y577*	probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eml5	A	G	12: 98,842,570 (GRCm39)	F176S	probably damaging	Het
Esco2	C	A	14: 66,068,982 (GRCm39)	R109S	probably damaging	Het
Galnt7	C	T	8: 57,985,748 (GRCm39)	E541K	probably benign	Het
Gbf1	C	T	19: 46,255,658 (GRCm39)	T707I	probably damaging	Het
Glyctk	T	C	9: 106,035,064 (GRCm39)	M1V	probably null	Het
Gm5478	T	C	15: 101,552,830 (GRCm39)	E367G	probably damaging	Het
Golga7b	G	A	19: 42,251,768 (GRCm39)	V5I	probably benign	Het
Gpt2	T	C	8: 86,219,764 (GRCm39)	L70P	probably damaging	Het
Gsdmc3	C	A	15: 63,730,315 (GRCm39)	Q416H	probably damaging	Het
Hoxb5	A	G	11: 96,194,918 (GRCm39)	E160G	probably benign	Het
Ift81	A	T	5: 122,698,772 (GRCm39)	Y532N	probably benign	Het
Igf1	G	A	10: 87,700,726 (GRCm39)	C66Y	probably damaging	Het
Igf1r	T	C	7: 67,857,023 (GRCm39)	V995A	probably damaging	Het
Ip6k1	T	C	9: 107,918,287 (GRCm39)		probably null	Het
Jaml	T	C	9: 45,015,495 (GRCm39)	I333T	possibly damaging	Het
Kdm4c	T	C	4: 74,225,253 (GRCm39)		probably benign	Het
Kdm6b	T	C	11: 69,292,191 (GRCm39)		probably benign	Het
Krt6a	C	T	15: 101,599,900 (GRCm39)	R404H	probably damaging	Het
Larp4b	C	A	13: 9,186,878 (GRCm39)	H69N	probably benign	Het
Lcat	A	T	8: 106,668,355 (GRCm39)	W222R	probably damaging	Het
Lrrc40	T	A	3: 157,746,086 (GRCm39)	C54S	probably benign	Het
Mcpt9	T	A	14: 56,265,024 (GRCm39)	H159L	probably benign	Het
Megf8	T	C	7: 25,062,976 (GRCm39)	V2444A	probably damaging	Het
Memo1	T	C	17: 74,552,003 (GRCm39)	T98A	possibly damaging	Het
Mical2	A	T	7: 112,012,051 (GRCm39)	I634L	probably benign	Het
Mov10	C	T	3: 104,704,293 (GRCm39)	R835Q	probably damaging	Het
Mybpc1	A	T	10: 88,384,688 (GRCm39)	L546Q	probably damaging	Het
Myo6	T	C	9: 80,168,117 (GRCm39)	V427A	probably damaging	Het
Myom2	T	A	8: 15,182,599 (GRCm39)		probably null	Het
Mzt2	G	A	16: 15,666,543 (GRCm39)	R125C	probably damaging	Het
Neb	T	A	2: 52,162,949 (GRCm39)	R2031*	probably null	Het
Nphp3	T	C	9: 103,898,537 (GRCm39)	S447P	probably benign	Het
Nrp2	T	A	1: 62,758,090 (GRCm39)	D25E	probably benign	Het
Nts	A	G	10: 102,320,918 (GRCm39)	L57S	probably damaging	Het
Nudt9	G	A	5: 104,212,971 (GRCm39)	R348H	probably benign	Het
Or10d5j	T	C	9: 39,867,979 (GRCm39)	Y84C	probably benign	Het
Or13a1	C	T	6: 116,470,725 (GRCm39)	P52S	probably benign	Het
Or3a1b	C	A	11: 74,012,650 (GRCm39)	D178E	probably benign	Het
Or4k49	T	C	2: 111,495,234 (GRCm39)	I221T	probably damaging	Het
Or5ac16	T	A	16: 59,022,271 (GRCm39)	I173F	possibly damaging	Het
Pafah1b1	T	C	11: 74,590,177 (GRCm39)		probably benign	Het
Piezo2	C	A	18: 63,211,911 (GRCm39)	M1291I	probably damaging	Het
Pik3ca	T	C	3: 32,498,016 (GRCm39)	F486S	probably benign	Het
Podnl1	C	T	8: 84,853,926 (GRCm39)	H99Y	probably benign	Het
Prdm6	A	T	18: 53,701,233 (GRCm39)	Y341F	probably damaging	Het
Prr5l	C	T	2: 101,588,854 (GRCm39)		probably null	Het
Psmd4	G	T	3: 94,944,012 (GRCm39)	T24N	possibly damaging	Het
Rbbp8nl	G	A	2: 179,922,667 (GRCm39)	T242M	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Scfd1	T	C	12: 51,469,769 (GRCm39)	V438A	probably benign	Het
Scn9a	A	G	2: 66,314,655 (GRCm39)	C1677R	probably damaging	Het
Sgsm2	T	A	11: 74,782,854 (GRCm39)	H34L	probably damaging	Het
Shank1	T	A	7: 43,993,747 (GRCm39)		probably null	Het
Smarca2	G	T	19: 26,650,124 (GRCm39)	E24*	probably null	Het
Sncaip	C	T	18: 53,004,434 (GRCm39)	H354Y	probably damaging	Het
St8sia2	T	A	7: 73,593,057 (GRCm39)	D333V	probably damaging	Het
Stxbp2	C	A	8: 3,692,672 (GRCm39)	R575S	probably benign	Het
Syt9	T	A	7: 107,024,314 (GRCm39)	V69D	probably damaging	Het
Tanc2	A	G	11: 105,689,558 (GRCm39)	N240S	probably benign	Het
Tcl1b1	T	C	12: 105,130,727 (GRCm39)	L70S	probably benign	Het
Tmem44	C	T	16: 30,362,219 (GRCm39)		probably null	Het
Tor1b	A	G	2: 30,846,931 (GRCm39)	R293G	probably benign	Het
Trim29	T	C	9: 43,222,615 (GRCm39)	V148A	probably benign	Het
Trmt10b	C	A	4: 45,314,378 (GRCm39)	Y271*	probably null	Het
Ubqln5	A	T	7: 103,778,095 (GRCm39)	V243E	possibly damaging	Het
Ubqln5	T	C	7: 103,778,134 (GRCm39)	D230G	probably damaging	Het
Ugt2b37	A	G	5: 87,402,193 (GRCm39)	F146S	probably damaging	Het
Vmn1r160	T	A	7: 22,570,827 (GRCm39)	V60E	probably damaging	Het
Vmn2r109	T	A	17: 20,774,185 (GRCm39)	D390V	probably damaging	Het
Vmn2r27	C	T	6: 124,200,793 (GRCm39)	R388Q	possibly damaging	Het
Vmn2r72	A	T	7: 85,398,369 (GRCm39)	V537D	probably benign	Het
Vmn2r84	A	G	10: 130,226,591 (GRCm39)	S416P	probably damaging	Het
Vmn2r98	C	A	17: 19,285,595 (GRCm39)	Y138*	probably null	Het
Vmn2r-ps158	T	C	7: 42,696,824 (GRCm39)	V620A	probably benign	Het
Xrra1	A	C	7: 99,560,227 (GRCm39)	E401A	probably damaging	Het
Zfp280d	T	A	9: 72,242,362 (GRCm39)	C688*	probably null	Het
Zfp3	T	A	11: 70,662,954 (GRCm39)	Y304*	probably null	Het
Zfp407	A	T	18: 84,577,461 (GRCm39)	D1217E	probably benign	Het
Zfp658	T	C	7: 43,223,245 (GRCm39)	Y507H	possibly damaging	Het
Zfyve16	T	C	13: 92,659,252 (GRCm39)	T220A	possibly damaging	Het
Zmym4	C	G	4: 126,796,463 (GRCm39)	K820N	possibly damaging	Het

Other mutations in Gdf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Gdf5	APN	2	155,783,626 (GRCm39)	missense	probably damaging	1.00
R1900:Gdf5	UTSW	2	155,784,001 (GRCm39)	missense	probably damaging	1.00
R2568:Gdf5	UTSW	2	155,784,010 (GRCm39)	missense	probably benign	0.06
R4556:Gdf5	UTSW	2	155,783,782 (GRCm39)	missense	probably benign
R7038:Gdf5	UTSW	2	155,786,655 (GRCm39)	missense	probably damaging	0.99
R7990:Gdf5	UTSW	2	155,783,749 (GRCm39)	missense	probably damaging	1.00
R8406:Gdf5	UTSW	2	155,784,272 (GRCm39)	missense	probably damaging	1.00
R9282:Gdf5	UTSW	2	155,783,915 (GRCm39)	missense	probably damaging	1.00
Z1177:Gdf5	UTSW	2	155,783,992 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGTTTATACACCACGTTGTTGGC -3'
(R):5'- AATGAGATTAAGGCCCGCTCTG -3'

Sequencing Primer
(F):5'- ACCACGTTGTTGGCAGAGTC -3'
(R):5'- ATGAATATTTGTTCAGCCAGCGG -3'

Posted On

2014-08-01