Mutagenetix > Incidental Mutation

Incidental Mutation 'R5833:Ddr2'

449393

Institutional Source

Beutler Lab

Gene Symbol

Ddr2

Ensembl Gene

ENSMUSG00000026674

Gene Name

discoidin domain receptor family, member 2

Synonyms

Ntrkr3

MMRRC Submission

043221-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5833 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

169799876-169938331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 169832265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 175 (N175S)

Ref Sequence

ENSEMBL: ENSMUSP00000141443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027985] [ENSMUST00000170800] [ENSMUST00000192312] [ENSMUST00000194690]

AlphaFold

Q62371

Predicted Effect

probably benign
Transcript: ENSMUST00000027985
AA Change: N175S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: N175S

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
AA Change: N175S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: N175S

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: ENSMUST00000192312

SMART Domains

Protein: ENSMUSP00000142191
Gene: ENSMUSG00000026674

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FA58C	29	129	7e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194690
AA Change: N175S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: N175S

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

1x: 99.8%
3x: 99.2%
10x: 95.7%
20x: 84.6%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcb4	T	C	5: 9,008,314 (GRCm39)	Y1161H	probably damaging	Het
Adcy2	T	A	13: 68,886,722 (GRCm39)	M276L	probably benign	Het
Adi1	A	G	12: 28,731,041 (GRCm39)	D166G	probably benign	Het
Arhgap44	T	G	11: 64,929,503 (GRCm39)	E267A	probably damaging	Het
Arl11	T	A	14: 61,548,511 (GRCm39)	L107Q	probably damaging	Het
C1qtnf3	A	G	15: 10,975,716 (GRCm39)	D247G	probably benign	Het
C4b	T	C	17: 34,949,647 (GRCm39)	D1481G	probably damaging	Het
Cacna1a	T	C	8: 85,245,326 (GRCm39)	F242L	probably damaging	Het
Ccnl1	T	C	3: 65,855,922 (GRCm39)	K298E	probably benign	Het
Dcaf5	A	G	12: 80,395,203 (GRCm39)	V322A	probably damaging	Het
Enox1	T	A	14: 77,744,379 (GRCm39)	M21K	probably benign	Het
Fhad1	T	C	4: 141,729,838 (GRCm39)	D55G	probably damaging	Het
Gm5157	A	G	7: 20,919,318 (GRCm39)	M75T	possibly damaging	Het
Gm6309	A	G	5: 146,105,128 (GRCm39)	S262P	probably damaging	Het
Gpnmb	T	C	6: 49,020,952 (GRCm39)	L82P	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Itpripl2	A	C	7: 118,089,194 (GRCm39)	V455G	probably benign	Het
Kif16b	A	G	2: 142,549,287 (GRCm39)	V1087A	probably benign	Het
Med12l	A	G	3: 59,172,647 (GRCm39)	D1801G	possibly damaging	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mtmr4	T	A	11: 87,495,875 (GRCm39)	Y570*	probably null	Het
Osbpl1a	G	T	18: 12,921,419 (GRCm39)	N128K	probably damaging	Het
Pcdhb5	T	A	18: 37,454,155 (GRCm39)	H178Q	probably damaging	Het
Pdlim1	A	T	19: 40,218,989 (GRCm39)	F214Y	probably damaging	Het
Qki	A	T	17: 10,435,316 (GRCm39)	L236H	probably damaging	Het
Rexo2	G	T	9: 48,380,171 (GRCm39)	D220E	probably benign	Het
Rras	A	G	7: 44,670,715 (GRCm39)	E195G	possibly damaging	Het
Serpinb11	T	C	1: 107,305,392 (GRCm39)		probably null	Het
Sp1	T	A	15: 102,339,352 (GRCm39)	M430K	possibly damaging	Het
Tardbp	A	C	4: 148,702,117 (GRCm39)	V86G	probably damaging	Het
Trim43c	A	G	9: 88,725,090 (GRCm39)	Q203R	possibly damaging	Het
Vmn1r232	A	G	17: 21,133,913 (GRCm39)	L229P	probably damaging	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
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
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'- TCATTTCCACCACAGGGCAC -3'
(R):5'- GAGCAAAGTGTCCATCAAATGC -3'

Sequencing Primer
(F):5'- CAAGCCCTGGGTAGATGGGTG -3'
(R):5'- GTGTCCATCAAATGCATGATTCATG -3'

Posted On

2016-12-20