Mutagenetix > Incidental Mutation

Incidental Mutation 'R0574:Ddr2'

46562

Institutional Source

Beutler Lab

Gene Symbol

Ddr2

Ensembl Gene

ENSMUSG00000026674

Gene Name

discoidin domain receptor family, member 2

Synonyms

Ntrkr3

MMRRC Submission

038764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0574 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

169799876-169938331 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 169809532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141443 (fasta)

Gene Model

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

AlphaFold

Q62371

Predicted Effect

probably benign
Transcript: ENSMUST00000027985

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674

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

probably benign
Transcript: ENSMUST00000170800

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674

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

probably benign
Transcript: ENSMUST00000194690

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

100% (34/34)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700099C18Rik	T	C	17: 95,068,919 (GRCm39)		noncoding transcript	Het
Abca14	A	G	7: 119,823,720 (GRCm39)	I416V	probably damaging	Het
Actrt3	T	C	3: 30,653,829 (GRCm39)	E57G	probably benign	Het
Adamts5	A	G	16: 85,696,372 (GRCm39)	S262P	probably damaging	Het
Aldh1a2	T	C	9: 71,188,990 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,801,274 (GRCm39)	I670V	probably benign	Het
Bptf	T	C	11: 106,967,353 (GRCm39)	D1009G	probably damaging	Het
Ift140	T	A	17: 25,270,734 (GRCm39)		probably null	Het
Itga1	A	C	13: 115,103,097 (GRCm39)	S1111R	probably damaging	Het
Klk1b27	T	A	7: 43,705,525 (GRCm39)	L199Q	probably damaging	Het
Lhx3	T	C	2: 26,091,323 (GRCm39)	S329G	probably benign	Het
Man2b1	T	G	8: 85,823,405 (GRCm39)	M913R	probably benign	Het
Mmp15	G	A	8: 96,092,029 (GRCm39)	A80T	possibly damaging	Het
Mpo	A	T	11: 87,686,902 (GRCm39)	Y177F	probably damaging	Het
Mynn	T	C	3: 30,670,888 (GRCm39)	S587P	probably benign	Het
Nfkbib	C	T	7: 28,461,213 (GRCm39)	V145I	probably benign	Het
Or1o3	G	T	17: 37,573,772 (GRCm39)	S261Y	probably damaging	Het
Or4k15	A	T	14: 50,364,139 (GRCm39)	Y35F	probably damaging	Het
Or6k8-ps1	T	C	1: 173,979,132 (GRCm39)	F17L	probably benign	Het
Pole2	G	A	12: 69,258,231 (GRCm39)		probably benign	Het
Ppargc1b	C	T	18: 61,435,810 (GRCm39)	G906D	probably benign	Het
Prl8a2	T	A	13: 27,532,883 (GRCm39)	C32S	probably damaging	Het
Rhno1	A	T	6: 128,335,113 (GRCm39)		probably null	Het
Rprd2	T	C	3: 95,681,669 (GRCm39)	E408G	possibly damaging	Het
Ryr2	T	A	13: 11,746,555 (GRCm39)	H1999L	probably benign	Het
Shprh	T	C	10: 11,038,821 (GRCm39)		probably benign	Het
Snx3	T	A	10: 42,378,383 (GRCm39)	N19K	probably benign	Het
Stx8	C	T	11: 67,864,078 (GRCm39)	T46M	probably damaging	Het
Tbc1d17	A	G	7: 44,492,547 (GRCm39)		probably benign	Het
Ush1c	A	G	7: 45,846,228 (GRCm39)	S855P	possibly damaging	Het
Usp54	A	G	14: 20,606,322 (GRCm39)	V1338A	probably benign	Het
Vmn1r214	A	G	13: 23,218,663 (GRCm39)	I52M	probably benign	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
IGL01898:Ddr2	APN	1	169,825,725 (GRCm39)	missense	possibly damaging	0.85
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCCAGAGGATCAATCAGTAGGC -3'
(R):5'- AGGGCAAATTCACCACGGCAAG -3'

Sequencing Primer
(F):5'- acaaacaaaaaacaaaaaacaaCACC -3'
(R):5'- TTCACCACGGCAAGTGATG -3'

Posted On

2013-06-11