Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Ddr2'

345988

Institutional Source

Beutler Lab

Gene Symbol

Ddr2

Ensembl Gene

ENSMUSG00000026674

Gene Name

discoidin domain receptor family, member 2

Synonyms

Ntrkr3

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169972307-170110762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 170001852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 278 (I278F)

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: I278F

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: I278F

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: I278F

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: I278F

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: I278F

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: I278F

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

0.0793

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610		probably null	Het
Akr1b3	C	A	6: 34,306,664		probably benign	Het
Arid1a	A	G	4: 133,687,323	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,752,461	S127P	probably damaging	Het
Blk	C	T	14: 63,374,203	V428I	probably benign	Het
C87414	A	T	5: 93,636,602	D137E	probably damaging	Het
Ccser1	T	C	6: 61,311,584	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,474,526	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,814,154	Y173N	possibly damaging	Het
Degs1	T	C	1: 182,276,823	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590		probably benign	Het
Ephb6	A	G	6: 41,616,574	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916	F606I	possibly damaging	Het
Extl1	A	G	4: 134,371,379	S114P	probably damaging	Het
Extl1	A	C	4: 134,371,380	D113E	probably benign	Het
Fat1	T	C	8: 44,950,683	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288		probably null	Het
Kmt2d	A	T	15: 98,839,716		probably benign	Het
Krr1	T	C	10: 111,975,677		probably benign	Het
Krt83	C	T	15: 101,487,049	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383		noncoding transcript	Het
Myadm	T	A	7: 3,297,400	L226*	probably null	Het
Myof	C	T	19: 37,967,099	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,429,323		probably benign	Het
Olfr1010	T	A	2: 85,753,940		probably benign	Het
Olfr1260	C	A	2: 89,978,006	A76D	possibly damaging	Het
Olfr1270	G	T	2: 90,148,816		probably benign	Het
Olfr398	A	G	11: 73,983,892	S239P	probably damaging	Het
Pars2	T	C	4: 106,654,050	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232	I35T	probably benign	Het
Podn	C	A	4: 108,017,867	A568S	probably benign	Het
Pou3f1	A	T	4: 124,658,836	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ptpn9	A	T	9: 57,022,211	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476	K370*	probably null	Het
Rpap2	G	A	5: 107,601,795	V62I	possibly damaging	Het
Scaper	A	T	9: 55,655,903		probably null	Het
Sos2	T	C	12: 69,614,606		probably benign	Het
Sptbn5	C	T	2: 120,067,446		probably null	Het
Sumo1	A	G	1: 59,644,509		probably benign	Het
Syne2	C	A	12: 75,989,253	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357		probably null	Het
Wdr7	C	T	18: 63,779,945	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783	I256T	probably benign	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
commie	UTSW	1	170001983	missense	possibly damaging	0.82
debulked	UTSW	1	169982098	missense	probably damaging	1.00
Demokratische	UTSW	1	169982103	missense	probably damaging	1.00
deutsche	UTSW	1	169984961	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
ripper	UTSW	1	169977914	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
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
R6925:Ddr2	UTSW	1	169998132	missense	probably benign	0.01
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
R8728:Ddr2	UTSW	1	170001983	missense	possibly damaging	0.82
R8819:Ddr2	UTSW	1	169977914	nonsense	probably null
R8820:Ddr2	UTSW	1	169977914	nonsense	probably null
R9328:Ddr2	UTSW	1	170001935	missense	probably benign	0.00
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'- GGGTCTAACCTGTTGTGCAG -3'
(R):5'- GTGTGAGTAACTCCAGGCTTCTC -3'

Sequencing Primer
(F):5'- TGTTGTGCAGAGTTAACAAATGAAG -3'
(R):5'- CTCTTCCCATGGCCTGAGCAG -3'

Posted On

2015-09-25