Mutagenetix > Incidental Mutation

Incidental Mutation 'R2178:Ddr2'

236975

Institutional Source

Beutler Lab

Gene Symbol

Ddr2

Ensembl Gene

ENSMUSG00000026674

Gene Name

discoidin domain receptor family, member 2

Synonyms

Ntrkr3

MMRRC Submission

040180-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

169799876-169938331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 169822251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 399 (R399Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141443 (fasta)

Gene Model

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

AlphaFold

Q62371

Predicted Effect

probably benign
Transcript: ENSMUST00000027985
AA Change: R399Q

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: R399Q

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: R399Q

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: R399Q

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: R399Q

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: R399Q

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: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	A	T	15: 98,492,236 (GRCm39)	N1007K	probably damaging	Het
Apon	C	A	10: 128,090,634 (GRCm39)	A104E	probably benign	Het
Cdh15	T	A	8: 123,591,715 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,779,297 (GRCm39)	V769A	probably benign	Het
Cep152	A	T	2: 125,421,954 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,711,863 (GRCm39)	N711D	probably damaging	Het
Col1a2	T	C	6: 4,531,143 (GRCm39)	F731L	unknown	Het
Cpt1b	T	C	15: 89,303,246 (GRCm39)	E603G	probably damaging	Het
Cspp1	T	G	1: 10,174,471 (GRCm39)	D641E	possibly damaging	Het
Dzip1	T	C	14: 119,126,816 (GRCm39)		probably null	Het
Greb1	A	G	12: 16,746,388 (GRCm39)	V1294A	probably damaging	Het
Hmgb4	A	G	4: 128,154,275 (GRCm39)	S98P	probably damaging	Het
Kif12	G	A	4: 63,085,196 (GRCm39)	P515L	probably benign	Het
Kmt5b	A	C	19: 3,865,372 (GRCm39)	E789A	possibly damaging	Het
Lama1	G	T	17: 68,076,510 (GRCm39)	V1095F	probably benign	Het
Leprot	T	C	4: 101,513,308 (GRCm39)	V32A	probably benign	Het
Mcoln1	A	G	8: 3,558,766 (GRCm39)	T255A	probably damaging	Het
Mertk	G	A	2: 128,634,984 (GRCm39)	E765K	probably damaging	Het
Muc5b	A	G	7: 141,417,853 (GRCm39)	T3600A	possibly damaging	Het
Ncapd3	A	T	9: 26,999,845 (GRCm39)	E1395V	probably benign	Het
Ntrk2	T	C	13: 58,956,616 (GRCm39)	F25S	probably benign	Het
Or2a5	A	G	6: 42,873,732 (GRCm39)	M116V	probably benign	Het
Or6z1	G	T	7: 6,504,487 (GRCm39)	A246D	probably damaging	Het
Or7c70	T	A	10: 78,683,612 (GRCm39)	I46F	probably damaging	Het
Pappa	C	A	4: 65,269,924 (GRCm39)	H1613N	probably benign	Het
Polq	T	C	16: 36,883,191 (GRCm39)	V1785A	probably damaging	Het
Pramel23	A	T	4: 143,424,612 (GRCm39)	I277K	possibly damaging	Het
Prkar2a	T	C	9: 108,617,737 (GRCm39)		probably null	Het
Qrich2	T	C	11: 116,334,603 (GRCm39)	D2194G	probably damaging	Het
Rnf183	T	C	4: 62,346,333 (GRCm39)	N155S	probably benign	Het
S1pr5	T	C	9: 21,155,760 (GRCm39)	N222S	probably benign	Het
Scnn1a	C	T	6: 125,307,965 (GRCm39)	R170C	probably damaging	Het
Slc25a2	T	C	18: 37,771,311 (GRCm39)	T73A	probably benign	Het
Tgfb1	A	G	7: 25,404,234 (GRCm39)	N347S	probably damaging	Het
Ticrr	T	C	7: 79,315,433 (GRCm39)	V229A	probably benign	Het
Tjp3	T	C	10: 81,115,941 (GRCm39)	E313G	probably benign	Het
Tnfsf11	A	G	14: 78,521,682 (GRCm39)	S176P	probably benign	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Vps39	C	A	2: 120,154,160 (GRCm39)	E612*	probably null	Het
Vwf	T	A	6: 125,619,095 (GRCm39)	Y1258N	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GTGTCATGGCAGTACAGGAA -3'
(R):5'- CGGTGACCCATGGAAGAAGATT -3'

Sequencing Primer
(F):5'- CTTGACACAGCTGGAGTTATCACAG -3'
(R):5'- GCCCTAGGAAGTGAATCT -3'

Posted On

2014-10-02