Mutagenetix > Incidental Mutation

Incidental Mutation 'R3971:Ddr2'

310956

Institutional Source

Beutler Lab

Gene Symbol

Ddr2

Ensembl Gene

ENSMUSG00000026674

Gene Name

discoidin domain receptor family, member 2

Synonyms

Ntrkr3

MMRRC Submission

040839-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169799876-169938331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 169815986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 574 (F574L)

Ref Sequence

ENSEMBL: ENSMUSP00000141443 (fasta)

Gene Model

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

AlphaFold

Q62371

Predicted Effect

probably damaging
Transcript: ENSMUST00000027985
AA Change: F574L

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

SMART Domains

Protein: ENSMUSP00000027985
Gene: ENSMUSG00000026674
AA Change: F574L

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: F574L

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

SMART Domains

Protein: ENSMUSP00000129624
Gene: ENSMUSG00000026674
AA Change: F574L

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: F574L

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

SMART Domains

Protein: ENSMUSP00000141443
Gene: ENSMUSG00000026674
AA Change: F574L

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

0.9433

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

95% (38/40)

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
Aadat	C	T	8: 60,971,615 (GRCm39)	P147L	probably damaging	Het
Apbb1ip	T	A	2: 22,713,506 (GRCm39)	D120E	unknown	Het
Atp10b	A	G	11: 43,107,339 (GRCm39)	D791G	probably damaging	Het
Aunip	A	G	4: 134,250,780 (GRCm39)	K242E	possibly damaging	Het
Ccdc80	A	G	16: 44,916,183 (GRCm39)	E313G	probably benign	Het
Cd72	C	T	4: 43,449,491 (GRCm39)	R275H	probably damaging	Het
Chrnb1	A	G	11: 69,683,742 (GRCm39)		probably benign	Het
Coro2b	C	T	9: 62,336,522 (GRCm39)	A251T	possibly damaging	Het
Cspg4b	A	G	13: 113,453,660 (GRCm39)	E41G	probably damaging	Het
Dock1	G	A	7: 134,348,637 (GRCm39)	D284N	probably damaging	Het
Dync1h1	A	G	12: 110,632,399 (GRCm39)	H4506R	probably benign	Het
Fam174b	T	C	7: 73,416,348 (GRCm39)	V147A	probably damaging	Het
Glp2r	T	A	11: 67,637,641 (GRCm39)	D130V	possibly damaging	Het
Gm18856	A	T	13: 14,139,433 (GRCm39)		probably benign	Het
Gm7247	A	G	14: 51,602,841 (GRCm39)	Y59C	probably damaging	Het
Hecw1	T	C	13: 14,411,514 (GRCm39)	D1062G	probably damaging	Het
Ifit2	A	G	19: 34,551,441 (GRCm39)	E327G	probably benign	Het
Ighv1-37	A	T	12: 114,860,079 (GRCm39)	S43T	probably damaging	Het
Man2b1	A	G	8: 85,812,020 (GRCm39)	N158S	probably damaging	Het
Mcoln1	T	A	8: 3,557,408 (GRCm39)	I138K	probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mrc2	G	A	11: 105,218,857 (GRCm39)	D193N	possibly damaging	Het
Myo5b	C	T	18: 74,873,598 (GRCm39)	L1501F	probably damaging	Het
Nckap1l	A	G	15: 103,370,987 (GRCm39)	K189E	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or6c69	T	C	10: 129,747,742 (GRCm39)	N135S	probably benign	Het
Otop1	A	G	5: 38,457,533 (GRCm39)	I431V	probably benign	Het
Psma8	A	G	18: 14,890,444 (GRCm39)	K195E	possibly damaging	Het
Rbm25	A	G	12: 83,721,982 (GRCm39)	T723A	probably benign	Het
Sema3b	A	G	9: 107,477,567 (GRCm39)	S485P	probably benign	Het
Slc12a2	T	A	18: 58,063,268 (GRCm39)	L916Q	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,971 (GRCm39)	D719V	possibly damaging	Het
Synj1	A	G	16: 90,788,491 (GRCm39)	S86P	probably damaging	Het
Tmem130	T	A	5: 144,692,131 (GRCm39)	H91L	probably benign	Het
Tsc2	T	C	17: 24,842,562 (GRCm39)	D288G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vps35l	T	C	7: 118,433,022 (GRCm39)	I585T	probably damaging	Het
Wac	T	C	18: 7,916,175 (GRCm39)	V303A	probably damaging	Het
Zfhx2	A	G	14: 55,311,932 (GRCm39)	V254A	probably benign	Het
Zfp993	A	G	4: 146,742,089 (GRCm39)	T138A	probably benign	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
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
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'- CTAGGGAATCCACAGCTCTTAAG -3'
(R):5'- CATGTCTTCTCAGGGTGCAGTG -3'

Sequencing Primer
(F):5'- CTCTTAAGCAAAGATGAGATTGACC -3'
(R):5'- AGCCCAATGGACCTGAGG -3'

Posted On

2015-04-29