Mutagenetix > Incidental Mutations

Incidental Mutation 'R6925:Ddr2'

541052

Institutional Source

Beutler Lab

Gene Symbol

Ddr2

Ensembl Gene

ENSMUSG00000026674

Gene Name

discoidin domain receptor family, member 2

Synonyms

Ntrkr3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

169972307-170110762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 169998132 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 300 (K300E)

Ref Sequence

ENSEMBL: ENSMUSP00000141443 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027985
AA Change: K300E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: K300E

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: K300E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: K300E

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
AA Change: K300E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: K300E

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

0.0582

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,222,707	Q177R	possibly damaging	Het
Acat1	A	T	9: 53,592,029	V170E	probably benign	Het
Atp2b2	T	A	6: 113,760,720	I902F	probably damaging	Het
Cacna1d	A	G	14: 30,051,637	V1697A	probably benign	Het
Ccdc14	T	A	16: 34,690,749	F31Y	probably benign	Het
Ccdc17	T	A	4: 116,598,210	V250E	probably damaging	Het
Cct7	A	G	6: 85,459,182	N25S	probably damaging	Het
Cep19	G	C	16: 32,103,942	G9R	probably damaging	Het
Ces5a	A	T	8: 93,523,057		probably null	Het
Chd1l	T	G	3: 97,582,826	E471A	probably damaging	Het
Chd6	A	G	2: 161,013,127	I787T	probably damaging	Het
Cntnap5c	A	C	17: 58,395,266	T1194P	probably benign	Het
Col6a3	T	A	1: 90,816,002	M208L	probably benign	Het
Coro7	A	T	16: 4,628,674		probably null	Het
Csrnp2	T	C	15: 100,481,958	K484R	probably benign	Het
Cyp2c39	T	A	19: 39,513,195	V64E	probably damaging	Het
Ddx56	T	C	11: 6,263,980	E393G	probably damaging	Het
Diaph1	A	C	18: 37,853,679	Y1084*	probably null	Het
Disp1	A	T	1: 183,086,478	F1459L	probably benign	Het
Dnajc8	G	A	4: 132,544,113	A80T	probably damaging	Het
Elfn1	T	A	5: 139,971,685	M148K	probably benign	Het
Emcn	T	A	3: 137,419,002	I154N	probably damaging	Het
Enah	C	G	1: 181,905,898		probably null	Het
Enah	T	A	1: 181,905,899		probably null	Het
Ep300	C	A	15: 81,649,981	Q2080K	probably benign	Het
Epha2	T	A	4: 141,308,757	M168K	probably benign	Het
Ercc6	T	A	14: 32,562,608	I776N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat4	G	T	3: 38,996,204		probably null	Het
G3bp1	A	G	11: 55,497,960	R333G	possibly damaging	Het
Gm3604	A	G	13: 62,369,390	F385L	probably benign	Het
Gm5800	T	C	14: 51,713,700	I147M	possibly damaging	Het
Hipk1	A	G	3: 103,778,245	F18S	unknown	Het
Ighv3-8	A	T	12: 114,322,330	C131S	probably benign	Het
Il23r	T	G	6: 67,423,493	T618P	probably damaging	Het
Il31ra	G	A	13: 112,527,529	T538I	possibly damaging	Het
Kcns2	A	G	15: 34,839,913	D474G	unknown	Het
Klc4	T	C	17: 46,636,229	T407A	possibly damaging	Het
Klra5	C	T	6: 129,911,457	S2N	probably benign	Het
Krt10	T	C	11: 99,388,851	Y161C	probably damaging	Het
Kxd1	A	T	8: 70,523,278	M1K	probably null	Het
Lgals1	A	C	15: 78,928,040	D27A	possibly damaging	Het
Lgr5	T	C	10: 115,466,346	S308G	probably benign	Het
Lrp1	G	A	10: 127,556,988	S2736L	probably benign	Het
Lrpap1	G	T	5: 35,102,536	H73N	probably benign	Het
Mcpt1	C	A	14: 56,019,065	T86K	probably damaging	Het
Megf6	A	T	4: 154,254,587	D527V	probably damaging	Het
Mical3	A	T	6: 120,959,390	S1392T	probably benign	Het
Mmp2	A	T	8: 92,839,382	D437V	probably damaging	Het
Mob4	T	A	1: 55,152,722	Y166*	probably null	Het
Mrap2	G	A	9: 87,182,474	M89I	possibly damaging	Het
Mug1	G	A	6: 121,881,787	A1155T	probably damaging	Het
Myh2	G	T	11: 67,193,218	A1556S	probably benign	Het
Nfatc3	A	G	8: 106,119,322	D1028G	probably benign	Het
Ngef	T	G	1: 87,503,263		probably null	Het
Nlrp1a	A	T	11: 71,092,513	L1209Q	probably null	Het
Npr2	C	T	4: 43,647,553	R819C	probably damaging	Het
Nsd2	A	T	5: 33,879,110	D646V	probably damaging	Het
Nsun7	A	G	5: 66,277,072	H252R	probably damaging	Het
Olfr267	A	T	4: 58,785,647	I25N	possibly damaging	Het
Olfr447	T	A	6: 42,911,857	C111*	probably null	Het
Olfr642	C	T	7: 104,049,740	V205I	probably benign	Het
Olfr951	A	T	9: 39,393,860	Q20L	probably benign	Het
Olfr951	G	T	9: 39,393,861	Q20H	probably benign	Het
Pcdhga2	A	T	18: 37,670,585	D494V	probably damaging	Het
Pcsk2	A	G	2: 143,813,747	E617G	probably damaging	Het
Pdc	T	C	1: 150,333,180	I138T	probably damaging	Het
Phc2	T	A	4: 128,748,134	S750T	probably damaging	Het
Pkd2l1	T	A	19: 44,191,508	N88Y	possibly damaging	Het
Plcl1	C	T	1: 55,406,598	R71*	probably null	Het
Prag1	C	A	8: 36,103,894	L544M	probably damaging	Het
Prkg2	A	G	5: 98,966,510		probably null	Het
Psd2	G	A	18: 35,979,711	S153N	probably damaging	Het
Rab11fip1	A	T	8: 27,152,972	S600T	probably damaging	Het
Rbms1	T	G	2: 60,762,304	T222P	probably benign	Het
Slfn8	A	T	11: 83,013,417	Y382*	probably null	Het
Socs4	T	A	14: 47,289,738	C43*	probably null	Het
Sorl1	T	A	9: 42,033,626	T868S	probably damaging	Het
St6gal1	A	G	16: 23,356,213	Y267C	probably damaging	Het
Syne1	A	G	10: 5,126,682	V6879A	probably benign	Het
Syne2	C	A	12: 75,854,132	H22N	possibly damaging	Het
Tmeff2	T	A	1: 50,928,021	L25Q	probably damaging	Het
Tmprss11g	G	T	5: 86,487,426	D396E	probably benign	Het
Tmprss11g	T	A	5: 86,487,436	H393L	probably benign	Het
Vmn2r23	A	G	6: 123,704,553	E140G	probably damaging	Het
Wapl	T	C	14: 34,677,363	S130P	probably benign	Het
Zeb2	T	A	2: 44,994,529	K982M	probably damaging	Het
Zfhx3	C	G	8: 108,956,821	H3631D	unknown	Het
Zfp719	T	C	7: 43,590,706	S573P	probably damaging	Het
Zfp979	A	T	4: 147,613,542	C237S	possibly damaging	Het

Other mutations in Ddr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ddr2	APN	1	169984427	missense	possibly damaging	0.95
IGL00432:Ddr2	APN	1	169997958	missense	probably benign	0.11
IGL00490:Ddr2	APN	1	170005194	missense	probably damaging	1.00
IGL01343:Ddr2	APN	1	169984581	missense	probably benign
IGL01898:Ddr2	APN	1	169998156	missense	possibly damaging	0.85
IGL01899:Ddr2	APN	1	169984422	missense	probably damaging	1.00
IGL01906:Ddr2	APN	1	169982099	missense	probably damaging	1.00
IGL02115:Ddr2	APN	1	169994709	missense	probably benign
IGL02330:Ddr2	APN	1	169988524	missense	probably damaging	0.99
IGL02740:Ddr2	APN	1	169984945	missense	probably damaging	1.00
IGL02828:Ddr2	APN	1	169988513	missense	probably benign	0.34
built	UTSW	1	169997964	missense	probably damaging	1.00
debulked	UTSW	1	169982098	missense	probably damaging	1.00
fibro	UTSW	1	170004812	splice site	probably benign
fingers	UTSW	1	169988540	missense	probably benign	0.16
Julio	UTSW	1	169997929	critical splice donor site	probably null
phalanges	UTSW	1	170005240	nonsense	probably null
revolta	UTSW	1	169988520	nonsense	probably null
Underrepresented	UTSW	1	169998132	missense	probably benign	0.01
R0574:Ddr2	UTSW	1	169981963	splice site	probably benign
R0730:Ddr2	UTSW	1	169995566	missense	probably benign
R0733:Ddr2	UTSW	1	170004812	splice site	probably benign
R0883:Ddr2	UTSW	1	169994629	missense	probably benign	0.01
R1340:Ddr2	UTSW	1	169998084	missense	probably benign
R1815:Ddr2	UTSW	1	169995601	nonsense	probably null
R1921:Ddr2	UTSW	1	170004245	missense	probably damaging	1.00
R1924:Ddr2	UTSW	1	169982072	missense	probably benign	0.01
R2016:Ddr2	UTSW	1	169984968	missense	probably damaging	1.00
R2079:Ddr2	UTSW	1	170004776	nonsense	probably null
R2178:Ddr2	UTSW	1	169994682	missense	probably benign	0.18
R2903:Ddr2	UTSW	1	169998161	missense	probably damaging	1.00
R3051:Ddr2	UTSW	1	169988455	missense	probably benign	0.01
R3971:Ddr2	UTSW	1	169988417	missense	probably damaging	1.00
R4290:Ddr2	UTSW	1	169990609	missense	probably benign	0.00
R4494:Ddr2	UTSW	1	169988414	missense	probably damaging	1.00
R4606:Ddr2	UTSW	1	170001852	missense	probably benign	0.05
R4721:Ddr2	UTSW	1	170005240	nonsense	probably null
R4734:Ddr2	UTSW	1	169998088	missense	probably benign	0.41
R4855:Ddr2	UTSW	1	169988497	missense	possibly damaging	0.94
R4871:Ddr2	UTSW	1	170004771	missense	probably benign	0.19
R4923:Ddr2	UTSW	1	169997929	critical splice donor site	probably null
R5207:Ddr2	UTSW	1	169984961	missense	probably damaging	1.00
R5325:Ddr2	UTSW	1	170001837	missense	probably benign	0.00
R5439:Ddr2	UTSW	1	170004729	missense	possibly damaging	0.92
R5723:Ddr2	UTSW	1	169988520	nonsense	probably null
R5833:Ddr2	UTSW	1	170004696	missense	probably benign	0.01
R5924:Ddr2	UTSW	1	169994628	missense	probably benign	0.03
R6020:Ddr2	UTSW	1	170005102	missense	probably benign	0.15
R6270:Ddr2	UTSW	1	169988540	missense	probably benign	0.16
R6326:Ddr2	UTSW	1	169987140	missense	probably damaging	1.00
R6328:Ddr2	UTSW	1	169987065	missense	possibly damaging	0.52
R6794:Ddr2	UTSW	1	169982098	missense	probably damaging	1.00
R7011:Ddr2	UTSW	1	169982103	missense	probably damaging	1.00
R7185:Ddr2	UTSW	1	169987054	missense	probably damaging	1.00
R7248:Ddr2	UTSW	1	169994629	missense	probably benign	0.01
R7278:Ddr2	UTSW	1	169984961	missense	probably damaging	1.00
R7343:Ddr2	UTSW	1	169982078	missense	probably damaging	1.00
R7366:Ddr2	UTSW	1	169997964	missense	probably damaging	1.00
R7520:Ddr2	UTSW	1	169984439	missense	probably damaging	1.00
R7571:Ddr2	UTSW	1	170001851	missense	probably benign	0.05
R7611:Ddr2	UTSW	1	169998158	missense	possibly damaging	0.73
R8425:Ddr2	UTSW	1	170036016	start gained	probably benign
X0004:Ddr2	UTSW	1	169987098	missense	probably benign	0.10
X0027:Ddr2	UTSW	1	169982030	missense	probably damaging	1.00
Z1176:Ddr2	UTSW	1	169984955	missense	probably damaging	1.00
Z1176:Ddr2	UTSW	1	169998083	missense	probably benign
Z1176:Ddr2	UTSW	1	169998084	missense	probably benign
Z1177:Ddr2	UTSW	1	169990622	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AACATCATCCACGTGTCGGC -3'
(R):5'- GTGACCAGAGCACACAGTTG -3'

Sequencing Primer
(F):5'- TCCACGTGTCGGCAAAATG -3'
(R):5'- AAACTGGGTTTTAGAAGGTCTGACC -3'

Posted On

2018-11-28