Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01898:Ddr2'

179466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddr2

Ensembl Gene

ENSMUSG00000026674

Gene Name

discoidin domain receptor family, member 2

Synonyms

Ntrkr3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01898

Quality Score

Status

Chromosome

Chromosomal Location

169799876-169938331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 169825725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 292 (F292L)

Ref Sequence

ENSEMBL: ENSMUSP00000141443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027985] [ENSMUST00000170800] [ENSMUST00000194690]

AlphaFold

Q62371

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027985
AA Change: F292L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: F292L

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
FA58C	29	185	2.39e-43	SMART
transmembrane domain	400	422	N/A	INTRINSIC
low complexity region	455	469	N/A	INTRINSIC
TyrKc	563	848	1.08e-133	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170800
AA Change: F292L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: F292L

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
FA58C	29	185	2.39e-43	SMART
transmembrane domain	400	422	N/A	INTRINSIC
low complexity region	455	469	N/A	INTRINSIC
TyrKc	563	848	1.08e-133	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194690
AA Change: F292L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: F292L

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
FA58C	29	185	2.39e-43	SMART
transmembrane domain	400	422	N/A	INTRINSIC
low complexity region	455	469	N/A	INTRINSIC
TyrKc	563	848	1.08e-133	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation, and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTKs have a tripartite structure with extracellular, transmembrane, and cytoplasmic regions. This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show dwarfism, reduced chondrocyte proliferation, shortened long bones and snout, and skull anomalies. Homozygotes for another null allele show similar skeletal defects, small hearts, short cardiomyocytes, lower cardiac collagen density, and altered cardiac function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	T	2: 154,394,633 (GRCm39)	D195V	probably damaging	Het
Aqp11	A	G	7: 97,375,870 (GRCm39)	W260R	probably benign	Het
Atp8a2	T	C	14: 60,260,962 (GRCm39)	T390A	probably damaging	Het
Atp8b4	T	C	2: 126,231,281 (GRCm39)	N431S	probably benign	Het
Ccdc110	T	G	8: 46,395,161 (GRCm39)	S351A	possibly damaging	Het
Cntnap4	T	C	8: 113,582,939 (GRCm39)	F1006L	possibly damaging	Het
F830104G03Rik	G	A	3: 56,797,637 (GRCm39)	Q97*	probably null	Het
Fam171a2	T	C	11: 102,330,582 (GRCm39)	T267A	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Igkv5-43	T	A	6: 69,752,876 (GRCm39)	K69*	probably null	Het
Mios	T	C	6: 8,222,668 (GRCm39)	I534T	probably benign	Het
Nus1	A	G	10: 52,306,163 (GRCm39)	D185G	probably benign	Het
Proc	A	G	18: 32,266,198 (GRCm39)		probably null	Het
Psma3	T	A	12: 71,031,448 (GRCm39)	H36Q	probably benign	Het
Sh3rf3	G	T	10: 58,885,352 (GRCm39)	A412S	probably damaging	Het
Smgc	A	T	15: 91,728,727 (GRCm39)		probably null	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,041,428 (GRCm39)	S1297R	probably benign	Het
Steap3	T	C	1: 120,169,304 (GRCm39)	D293G	probably benign	Het
Tbx18	A	T	9: 87,589,912 (GRCm39)	M342K	possibly damaging	Het
Trip11	T	C	12: 101,851,935 (GRCm39)	M425V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Ddr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ddr2	APN	1	169,811,996 (GRCm39)	missense	possibly damaging	0.95
IGL00432:Ddr2	APN	1	169,825,527 (GRCm39)	missense	probably benign	0.11
IGL00490:Ddr2	APN	1	169,832,763 (GRCm39)	missense	probably damaging	1.00
IGL01343:Ddr2	APN	1	169,812,150 (GRCm39)	missense	probably benign
IGL01899:Ddr2	APN	1	169,811,991 (GRCm39)	missense	probably damaging	1.00
IGL01906:Ddr2	APN	1	169,809,668 (GRCm39)	missense	probably damaging	1.00
IGL02115:Ddr2	APN	1	169,822,278 (GRCm39)	missense	probably benign
IGL02330:Ddr2	APN	1	169,816,093 (GRCm39)	missense	probably damaging	0.99
IGL02740:Ddr2	APN	1	169,812,514 (GRCm39)	missense	probably damaging	1.00
IGL02828:Ddr2	APN	1	169,816,082 (GRCm39)	missense	probably benign	0.34
built	UTSW	1	169,825,533 (GRCm39)	missense	probably damaging	1.00
commie	UTSW	1	169,829,552 (GRCm39)	missense	possibly damaging	0.82
debulked	UTSW	1	169,809,667 (GRCm39)	missense	probably damaging	1.00
Demokratische	UTSW	1	169,809,672 (GRCm39)	missense	probably damaging	1.00
deutsche	UTSW	1	169,812,530 (GRCm39)	missense	probably damaging	1.00
fibro	UTSW	1	169,832,381 (GRCm39)	splice site	probably benign
fingers	UTSW	1	169,816,109 (GRCm39)	missense	probably benign	0.16
Julio	UTSW	1	169,825,498 (GRCm39)	critical splice donor site	probably null
phalanges	UTSW	1	169,832,809 (GRCm39)	nonsense	probably null
revolta	UTSW	1	169,816,089 (GRCm39)	nonsense	probably null
ripper	UTSW	1	169,805,483 (GRCm39)	nonsense	probably null
Underrepresented	UTSW	1	169,825,701 (GRCm39)	missense	probably benign	0.01
R0574:Ddr2	UTSW	1	169,809,532 (GRCm39)	splice site	probably benign
R0730:Ddr2	UTSW	1	169,823,135 (GRCm39)	missense	probably benign
R0733:Ddr2	UTSW	1	169,832,381 (GRCm39)	splice site	probably benign
R0883:Ddr2	UTSW	1	169,822,198 (GRCm39)	missense	probably benign	0.01
R1340:Ddr2	UTSW	1	169,825,653 (GRCm39)	missense	probably benign
R1815:Ddr2	UTSW	1	169,823,170 (GRCm39)	nonsense	probably null
R1921:Ddr2	UTSW	1	169,831,814 (GRCm39)	missense	probably damaging	1.00
R1924:Ddr2	UTSW	1	169,809,641 (GRCm39)	missense	probably benign	0.01
R2016:Ddr2	UTSW	1	169,812,537 (GRCm39)	missense	probably damaging	1.00
R2079:Ddr2	UTSW	1	169,832,345 (GRCm39)	nonsense	probably null
R2178:Ddr2	UTSW	1	169,822,251 (GRCm39)	missense	probably benign	0.18
R2903:Ddr2	UTSW	1	169,825,730 (GRCm39)	missense	probably damaging	1.00
R3051:Ddr2	UTSW	1	169,816,024 (GRCm39)	missense	probably benign	0.01
R3971:Ddr2	UTSW	1	169,815,986 (GRCm39)	missense	probably damaging	1.00
R4290:Ddr2	UTSW	1	169,818,178 (GRCm39)	missense	probably benign	0.00
R4494:Ddr2	UTSW	1	169,815,983 (GRCm39)	missense	probably damaging	1.00
R4606:Ddr2	UTSW	1	169,829,421 (GRCm39)	missense	probably benign	0.05
R4721:Ddr2	UTSW	1	169,832,809 (GRCm39)	nonsense	probably null
R4734:Ddr2	UTSW	1	169,825,657 (GRCm39)	missense	probably benign	0.41
R4855:Ddr2	UTSW	1	169,816,066 (GRCm39)	missense	possibly damaging	0.94
R4871:Ddr2	UTSW	1	169,832,340 (GRCm39)	missense	probably benign	0.19
R4923:Ddr2	UTSW	1	169,825,498 (GRCm39)	critical splice donor site	probably null
R5207:Ddr2	UTSW	1	169,812,530 (GRCm39)	missense	probably damaging	1.00
R5325:Ddr2	UTSW	1	169,829,406 (GRCm39)	missense	probably benign	0.00
R5439:Ddr2	UTSW	1	169,832,298 (GRCm39)	missense	possibly damaging	0.92
R5723:Ddr2	UTSW	1	169,816,089 (GRCm39)	nonsense	probably null
R5833:Ddr2	UTSW	1	169,832,265 (GRCm39)	missense	probably benign	0.01
R5924:Ddr2	UTSW	1	169,822,197 (GRCm39)	missense	probably benign	0.03
R6020:Ddr2	UTSW	1	169,832,671 (GRCm39)	missense	probably benign	0.15
R6270:Ddr2	UTSW	1	169,816,109 (GRCm39)	missense	probably benign	0.16
R6326:Ddr2	UTSW	1	169,814,709 (GRCm39)	missense	probably damaging	1.00
R6328:Ddr2	UTSW	1	169,814,634 (GRCm39)	missense	possibly damaging	0.52
R6794:Ddr2	UTSW	1	169,809,667 (GRCm39)	missense	probably damaging	1.00
R6925:Ddr2	UTSW	1	169,825,701 (GRCm39)	missense	probably benign	0.01
R7011:Ddr2	UTSW	1	169,809,672 (GRCm39)	missense	probably damaging	1.00
R7185:Ddr2	UTSW	1	169,814,623 (GRCm39)	missense	probably damaging	1.00
R7248:Ddr2	UTSW	1	169,822,198 (GRCm39)	missense	probably benign	0.01
R7278:Ddr2	UTSW	1	169,812,530 (GRCm39)	missense	probably damaging	1.00
R7343:Ddr2	UTSW	1	169,809,647 (GRCm39)	missense	probably damaging	1.00
R7366:Ddr2	UTSW	1	169,825,533 (GRCm39)	missense	probably damaging	1.00
R7520:Ddr2	UTSW	1	169,812,008 (GRCm39)	missense	probably damaging	1.00
R7571:Ddr2	UTSW	1	169,829,420 (GRCm39)	missense	probably benign	0.05
R7611:Ddr2	UTSW	1	169,825,727 (GRCm39)	missense	possibly damaging	0.73
R8425:Ddr2	UTSW	1	169,863,585 (GRCm39)	start gained	probably benign
R8728:Ddr2	UTSW	1	169,829,552 (GRCm39)	missense	possibly damaging	0.82
R8819:Ddr2	UTSW	1	169,805,483 (GRCm39)	nonsense	probably null
R8820:Ddr2	UTSW	1	169,805,483 (GRCm39)	nonsense	probably null
R9328:Ddr2	UTSW	1	169,829,504 (GRCm39)	missense	probably benign	0.00
X0004:Ddr2	UTSW	1	169,814,667 (GRCm39)	missense	probably benign	0.10
X0027:Ddr2	UTSW	1	169,809,599 (GRCm39)	missense	probably damaging	1.00
Z1176:Ddr2	UTSW	1	169,825,653 (GRCm39)	missense	probably benign
Z1176:Ddr2	UTSW	1	169,825,652 (GRCm39)	missense	probably benign
Z1176:Ddr2	UTSW	1	169,812,524 (GRCm39)	missense	probably damaging	1.00
Z1177:Ddr2	UTSW	1	169,818,191 (GRCm39)	missense	possibly damaging	0.78

Posted On

2014-05-07