Mutagenetix > Incidental Mutations

Incidental Mutation 'R7366:Ddr2'

571769

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 #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

169972307-170110762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 169997964 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 356 (W356R)

Ref Sequence

ENSEMBL: ENSMUSP00000027985 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027985
AA Change: W356R

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

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: W356R

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: W356R

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

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: W356R

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: ENSMUST00000194690
AA Change: W356R

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

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: W356R

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

0.9058

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,208,118		probably null	Het
1700030K09Rik	C	T	8: 72,449,459	P244S	possibly damaging	Het
4930404N11Rik	T	C	10: 81,364,191	D165G	possibly damaging	Het
4930562C15Rik	A	G	16: 4,835,769	I61V	unknown	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Acbd3	A	G	1: 180,734,499	E181G	probably benign	Het
Ano3	T	C	2: 110,757,067	Y43C	probably damaging	Het
Aspa	T	A	11: 73,319,890		probably null	Het
AU018091	A	T	7: 3,156,330	N620K	probably damaging	Het
Bicc1	G	T	10: 70,943,386	T724K	probably benign	Het
Bmper	T	C	9: 23,484,004	I677T	probably damaging	Het
C3	T	A	17: 57,221,162	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,729,990	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,300,382	E462*	probably null	Het
Ccdc88c	C	A	12: 100,944,950	R875L	possibly damaging	Het
Cd177	C	T	7: 24,756,722	G207D	probably damaging	Het
Cdh23	A	T	10: 60,315,692	Y2471*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cmbl	A	T	15: 31,589,856	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919	V448A	probably damaging	Het
Depdc1a	A	G	3: 159,523,212	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,917,906	I481L	probably benign	Het
Dlst	A	T	12: 85,128,315	I260L	probably benign	Het
Dnajc13	T	G	9: 104,184,706	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,354,599	Y520C	probably damaging	Het
Dr1	C	A	5: 108,275,728	A127E	unknown	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770	C628R	probably damaging	Het
Edem3	T	A	1: 151,812,614		probably null	Het
Fam20a	T	A	11: 109,673,342	Q528H	possibly damaging	Het
Fanca	T	C	8: 123,281,213	E981G	probably benign	Het
Fbp2	A	G	13: 62,837,198	V303A	possibly damaging	Het
Flii	C	T	11: 60,721,119	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,785,758	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525	H72L	probably benign	Het
Gm5114	T	G	7: 39,409,344	T284P	possibly damaging	Het
Gm7168	T	C	17: 13,949,885	S505P	probably damaging	Het
Gnal	T	C	18: 67,211,071	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,265,749	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911		probably null	Het
Il3	T	A	11: 54,265,883	R93S	probably benign	Het
Itsn1	A	G	16: 91,908,450	E1573G	unknown	Het
Kif26a	G	A	12: 112,163,542		probably null	Het
Klb	T	C	5: 65,372,431	M434T	probably damaging	Het
Lrp2	T	A	2: 69,483,806	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Mak16	A	G	8: 31,166,099	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,817,455	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,274,568	I1186V	probably benign	Het
Mboat1	T	A	13: 30,202,362	C120S	possibly damaging	Het
Mctp2	T	A	7: 72,259,214	D117V	probably benign	Het
Mocos	C	A	18: 24,676,616	N425K	probably damaging	Het
Nav2	A	G	7: 49,554,203		probably null	Het
Ngfr	A	T	11: 95,574,429	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,502,964	S596G	probably damaging	Het
Olfr111	T	A	17: 37,530,817	V280D	probably damaging	Het
Olfr1414	A	G	1: 92,511,678	S117P	possibly damaging	Het
Olfr578	A	T	7: 102,984,516	I216K	probably damaging	Het
Olfr594	T	G	7: 103,220,533	Y272D	probably benign	Het
Olfr705	G	T	7: 106,873,396	P283Q	probably damaging	Het
Pithd1	T	C	4: 135,987,050	Y29C	probably benign	Het
Plcb3	T	C	19: 6,962,021	T530A	probably benign	Het
Prss40	A	T	1: 34,559,871	Y70*	probably null	Het
Ralgps1	T	C	2: 33,324,688	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,124,962	R36H	possibly damaging	Het
Rnf125	A	G	18: 20,974,433	N7S	not run	Het
Rpe65	G	A	3: 159,624,729	S511N	probably benign	Het
Rspo4	A	T	2: 151,867,873	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,422,149	S437P	probably benign	Het
Sele	C	A	1: 164,048,719	R12S	probably benign	Het
Sgo2b	T	A	8: 63,938,417	K139*	probably null	Het
Shroom3	C	A	5: 92,964,606	S1942*	probably null	Het
Slc12a9	G	A	5: 137,328,623	R191*	probably null	Het
Spag9	G	T	11: 94,108,521	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,604,194	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,314,049		probably null	Het
Sult2a8	A	T	7: 14,416,329		probably null	Het
Synpo2	A	G	3: 123,114,041	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,915,480		probably null	Het
Tenm2	T	C	11: 36,069,414	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,171,897	N62K	probably damaging	Het
Tollip	A	G	7: 141,889,597	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,471,107	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,374,513	S58P	probably benign	Het
Ttc9b	T	C	7: 27,654,959	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,222,912	Y185C	probably damaging	Het
Ubr2	C	T	17: 46,955,845	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Yipf3	T	A	17: 46,248,929	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,590,181	C19G	probably damaging	Het
Zfp735	A	T	11: 73,712,153	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,232,227	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,273,373		probably null	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
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
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'- AGTTTGTACTGTTCCACTCTGG -3'
(R):5'- AGGAGGTCCAGTGCTACTTTC -3'

Sequencing Primer
(F):5'- GAAACACAAAGGATTCTCTCTTTCC -3'
(R):5'- CAGTGCTACTTTCGCTCGGAAG -3'

Posted On

2019-09-13