Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00490:Ddr2'

7332

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 #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

169799876-169938331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 169832763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 99 (L99H)

Ref Sequence

ENSEMBL: ENSMUSP00000141443 (fasta)

Gene Model

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

AlphaFold

Q62371

Predicted Effect

probably damaging
Transcript: ENSMUST00000027985
AA Change: L99H

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

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: L99H

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 damaging
Transcript: ENSMUST00000170800
AA Change: L99H

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

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: L99H

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 damaging
Transcript: ENSMUST00000192312
AA Change: L99H

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

SMART Domains

Protein: ENSMUSP00000142191
Gene: ENSMUSG00000026674
AA Change: L99H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000194690
AA Change: L99H

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

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: L99H

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 129,905,665 (GRCm39)	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,171,172 (GRCm39)	M291T	probably benign	Het
Coq8b	C	A	7: 26,956,902 (GRCm39)	H518Q	probably benign	Het
Crebrf	A	G	17: 26,962,067 (GRCm39)	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,287,515 (GRCm39)	S244T	possibly damaging	Het
Dennd1a	G	T	2: 37,691,164 (GRCm39)	D251E	probably damaging	Het
Fam210a	G	T	18: 68,401,983 (GRCm39)	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,364,572 (GRCm39)	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,221,337 (GRCm39)	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,731,526 (GRCm39)	K335N	probably benign	Het
Loxhd1	A	T	18: 77,518,770 (GRCm39)	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,747,413 (GRCm39)	L484P	probably damaging	Het
Myt1l	T	A	12: 29,877,423 (GRCm39)	V358E	unknown	Het
Mzt1	A	G	14: 99,278,106 (GRCm39)		probably benign	Het
Nrxn2	C	A	19: 6,523,623 (GRCm39)	H514Q	possibly damaging	Het
Nup214	G	A	2: 31,923,991 (GRCm39)	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,442,969 (GRCm39)	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,239,198 (GRCm39)		probably benign	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Smcr8	T	A	11: 60,669,458 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,740,621 (GRCm39)	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,031,861 (GRCm39)	P689L	probably damaging	Het
Tep1	C	A	14: 51,070,930 (GRCm39)	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,845,048 (GRCm39)	E8G	probably benign	Het
Tmem236	A	G	2: 14,224,189 (GRCm39)	Y326C	probably damaging	Het
Trip4	C	T	9: 65,740,692 (GRCm39)	G573R	probably damaging	Het
Trrap	C	T	5: 144,762,035 (GRCm39)	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,816 (GRCm39)	N435S	probably damaging	Het
Ube3a	A	G	7: 58,921,858 (GRCm39)	N77D	probably damaging	Het
Uvrag	A	T	7: 98,628,948 (GRCm39)	I373N	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
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
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

2012-04-20