Mutagenetix > Incidental Mutation

Incidental Mutation 'R4829:Ddr1'

372710

Institutional Source

Beutler Lab

Gene Symbol

Ddr1

Ensembl Gene

ENSMUSG00000003534

Gene Name

discoidin domain receptor family, member 1

Synonyms

CD167a, Cak

MMRRC Submission

042445-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R4829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35992459-36015513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35996005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 625 (C625S)

Ref Sequence

ENSEMBL: ENSMUSP00000133047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003628] [ENSMUST00000097333] [ENSMUST00000117301] [ENSMUST00000119825] [ENSMUST00000134995] [ENSMUST00000148065] [ENSMUST00000155628] [ENSMUST00000166980] [ENSMUST00000155957]

AlphaFold

Q03146

Predicted Effect

probably damaging
Transcript: ENSMUST00000003628
AA Change: C625S

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

SMART Domains

Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: C625S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FA58C	31	186	1.3e-36	SMART
low complexity region	218	236	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
low complexity region	473	492	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
low complexity region	548	565	N/A	INTRINSIC
TyrKc	608	903	3.9e-131	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000097333
AA Change: C588S

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

SMART Domains

Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: C588S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FA58C	31	186	2.75e-34	SMART
low complexity region	218	236	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
low complexity region	473	492	N/A	INTRINSIC
low complexity region	511	528	N/A	INTRINSIC
TyrKc	571	866	8.14e-129	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117301
AA Change: C625S

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

SMART Domains

Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: C625S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FA58C	31	186	1.3e-36	SMART
low complexity region	218	236	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
low complexity region	473	492	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
low complexity region	548	565	N/A	INTRINSIC
TyrKc	608	903	4e-131	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119825
AA Change: C625S

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

SMART Domains

Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: C625S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FA58C	31	186	1.3e-36	SMART
low complexity region	218	236	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
low complexity region	473	492	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
low complexity region	548	565	N/A	INTRINSIC
TyrKc	608	903	3.9e-131	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134995

SMART Domains

Protein: ENSMUSP00000117301
Gene: ENSMUSG00000003534

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FA58C	31	186	2.75e-34	SMART
low complexity region	218	236	N/A	INTRINSIC
Blast:FA58C	239	264	2e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148065

SMART Domains

Protein: ENSMUSP00000120635
Gene: ENSMUSG00000003534

Domain	Start	End	E-Value	Type
Blast:FA58C	1	56	2e-33	BLAST
SCOP:d1d7pm_	1	58	2e-11	SMART
PDB:4AG4\|A	1	143	3e-73	PDB
Blast:FA58C	109	143	1e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000155628

SMART Domains

Protein: ENSMUSP00000133659
Gene: ENSMUSG00000003534

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FA58C	31	186	2.75e-34	SMART
low complexity region	218	236	N/A	INTRINSIC
Blast:FA58C	239	319	1e-45	BLAST
low complexity region	379	390	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
low complexity region	473	492	N/A	INTRINSIC
low complexity region	511	528	N/A	INTRINSIC
PDB:4CKR\|A	562	584	3e-6	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000166980
AA Change: C625S

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

SMART Domains

Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: C625S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FA58C	31	186	1.3e-36	SMART
low complexity region	218	236	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
low complexity region	473	492	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
low complexity region	548	565	N/A	INTRINSIC
TyrKc	608	903	3.9e-131	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155957

SMART Domains

Protein: ENSMUSP00000117427
Gene: ENSMUSG00000003534

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FA58C	31	186	2.75e-34	SMART
low complexity region	192	209	N/A	INTRINSIC

Meta Mutation Damage Score

0.9254

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutant mice are viable but smaller than control mice. Most mutant females are not able to give birth because developing blastocysts fail to implant. Successfully reproducing females show a lactation defect which is attributed to hyperproliferation and aberrant branching of mammary ducts. [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
1110002E22Rik	T	C	3: 137,774,780 (GRCm39)	V1323A	probably damaging	Het
Abcb1a	T	C	5: 8,773,214 (GRCm39)	L814P	probably damaging	Het
Acat1	C	A	9: 53,502,756 (GRCm39)	G191V	probably damaging	Het
Acsbg3	A	G	17: 57,190,500 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,224,277 (GRCm39)	D1184E	probably benign	Het
Adss1	T	C	12: 112,601,147 (GRCm39)	L283P	probably damaging	Het
Arid4a	A	G	12: 71,070,272 (GRCm39)		probably null	Het
Arid4b	T	A	13: 14,359,023 (GRCm39)	D599E	probably benign	Het
AW146154	T	C	7: 41,130,057 (GRCm39)	K353R	possibly damaging	Het
Axdnd1	G	T	1: 156,204,216 (GRCm39)	R547S	possibly damaging	Het
Bcat1	A	T	6: 144,961,201 (GRCm39)	F134Y	probably damaging	Het
Camk2d	C	A	3: 126,573,646 (GRCm39)		probably benign	Het
Catsperg2	T	G	7: 29,400,550 (GRCm39)	K268T	probably damaging	Het
Ccar1	A	C	10: 62,581,114 (GRCm39)	F1103L	unknown	Het
Ccdc141	T	A	2: 76,905,260 (GRCm39)	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,967,983 (GRCm39)	T16A	probably benign	Het
Cdca2	T	A	14: 67,931,202 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,420,952 (GRCm39)	I159V	probably damaging	Het
Cntn5	T	G	9: 9,976,288 (GRCm39)	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,448,413 (GRCm39)	A202E	unknown	Het
Csmd1	G	A	8: 16,177,310 (GRCm39)	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 54,028,895 (GRCm39)	A16V	possibly damaging	Het
Cspg4b	A	G	13: 113,504,696 (GRCm39)	I1942V	probably benign	Het
Dab2	A	G	15: 6,454,162 (GRCm39)	D224G	probably damaging	Het
Dennd4a	T	C	9: 64,796,338 (GRCm39)	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,660,617 (GRCm39)	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,391,654 (GRCm39)	I81S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fat1	C	T	8: 45,489,199 (GRCm39)	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,312,020 (GRCm39)	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,651,662 (GRCm39)	M548L	probably benign	Het
Fstl5	T	C	3: 76,229,489 (GRCm39)	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,176,994 (GRCm39)	S481T	probably damaging	Het
Gp2	A	T	7: 119,056,407 (GRCm39)	V22E	possibly damaging	Het
Grin1	A	G	2: 25,208,736 (GRCm39)	S55P	possibly damaging	Het
Herc2	A	G	7: 55,756,240 (GRCm39)	D760G	probably benign	Het
Hpn	A	G	7: 30,798,300 (GRCm39)		probably benign	Het
Hsf2	T	C	10: 57,372,266 (GRCm39)	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,900,788 (GRCm39)	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,471,346 (GRCm39)	K57R	probably benign	Het
Klc1	T	C	12: 111,762,037 (GRCm39)	I569T	probably damaging	Het
Klra3	T	G	6: 130,300,579 (GRCm39)	K263N	probably benign	Het
Lrcol1	C	A	5: 110,502,393 (GRCm39)	H90N	probably benign	Het
Mamdc4	T	C	2: 25,455,368 (GRCm39)	E921G	possibly damaging	Het
Mark1	G	A	1: 184,637,724 (GRCm39)	R622W	possibly damaging	Het
Mdga1	A	G	17: 30,065,343 (GRCm39)	S696P	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtnr1a	T	C	8: 45,538,652 (GRCm39)		probably benign	Het
Myo5a	T	C	9: 75,043,689 (GRCm39)	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,257,147 (GRCm39)	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,164,010 (GRCm39)		probably null	Het
Nxph3	T	C	11: 95,402,321 (GRCm39)	E31G	probably benign	Het
Obscn	T	C	11: 58,945,072 (GRCm39)	I4649V	probably null	Het
Or10d4b	A	T	9: 39,534,734 (GRCm39)	H103L	probably damaging	Het
Or8b12b	G	T	9: 37,684,243 (GRCm39)	C96F	probably damaging	Het
Or8g35	A	T	9: 39,381,663 (GRCm39)	Y120N	probably damaging	Het
Or8h10	G	A	2: 86,808,918 (GRCm39)	S74L	probably damaging	Het
P3h3	G	A	6: 124,818,601 (GRCm39)		probably benign	Het
Pcnx2	A	T	8: 126,587,797 (GRCm39)		probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,097,224 (GRCm39)	S792P	probably damaging	Het
Plppr4	A	T	3: 117,129,240 (GRCm39)	L76M	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,709 (GRCm39)	S205T	possibly damaging	Het
Prkdc	G	A	16: 15,519,939 (GRCm39)	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,181 (GRCm39)	S196L	probably benign	Het
Ptpn21	A	C	12: 98,655,555 (GRCm39)	S471A	probably damaging	Het
Ptprk	C	A	10: 28,456,480 (GRCm39)	S9*	probably null	Het
Rassf4	A	T	6: 116,622,103 (GRCm39)	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,104,034 (GRCm39)	R142S	probably damaging	Het
Rit2	C	A	18: 31,345,726 (GRCm39)	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,831,607 (GRCm39)	S187A	probably benign	Het
Rspo2	A	T	15: 42,956,583 (GRCm39)	Y83*	probably null	Het
Scn5a	C	T	9: 119,363,773 (GRCm39)	V456M	probably benign	Het
Scn9a	T	A	2: 66,382,057 (GRCm39)	H290L	probably benign	Het
Smarca4	T	C	9: 21,550,623 (GRCm39)	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612 (GRCm39)	I198K	probably damaging	Het
Smim14	G	A	5: 65,617,946 (GRCm39)		probably benign	Het
Spg11	A	C	2: 121,938,936 (GRCm39)	N339K	probably benign	Het
Spta1	A	G	1: 174,065,493 (GRCm39)	E2014G	probably benign	Het
Stk4	T	C	2: 163,941,747 (GRCm39)		probably null	Het
Sypl1	C	T	12: 33,017,645 (GRCm39)	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,634,331 (GRCm39)	F138I	probably benign	Het
Tcstv4	G	A	13: 120,769,926 (GRCm39)	C82Y	possibly damaging	Het
Tet2	A	C	3: 133,182,381 (GRCm39)	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,905,668 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,197,067 (GRCm39)	T91S	possibly damaging	Het
Tnik	A	T	3: 28,593,690 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,685,974 (GRCm39)	I402F	probably benign	Het
Unc93b1	A	T	19: 3,994,293 (GRCm39)	S475C	probably damaging	Het
Utrn	T	A	10: 12,539,205 (GRCm39)	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,955,927 (GRCm39)		noncoding transcript	Het
Vmn2r101	G	A	17: 19,832,229 (GRCm39)	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,083,635 (GRCm39)	L3P	possibly damaging	Het
Zfp882	T	G	8: 72,668,233 (GRCm39)	H353Q	probably damaging	Het

Other mutations in Ddr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Ddr1	APN	17	35,994,372 (GRCm39)	missense	probably damaging	1.00
IGL02126:Ddr1	APN	17	35,999,481 (GRCm39)	missense	probably damaging	0.99
IGL02167:Ddr1	APN	17	36,000,963 (GRCm39)	missense	possibly damaging	0.55
IGL02250:Ddr1	APN	17	35,994,372 (GRCm39)	missense	probably damaging	1.00
IGL02251:Ddr1	APN	17	35,994,372 (GRCm39)	missense	probably damaging	1.00
IGL02367:Ddr1	APN	17	35,994,372 (GRCm39)	missense	probably damaging	1.00
Checkpoint	UTSW	17	35,994,489 (GRCm39)	missense	probably damaging	1.00
Mauer	UTSW	17	36,000,561 (GRCm39)	nonsense	probably null
PIT4449001:Ddr1	UTSW	17	35,998,141 (GRCm39)	missense	possibly damaging	0.54
R0538:Ddr1	UTSW	17	35,995,899 (GRCm39)	missense	probably damaging	1.00
R0674:Ddr1	UTSW	17	36,000,561 (GRCm39)	nonsense	probably null
R4940:Ddr1	UTSW	17	36,001,022 (GRCm39)	missense	probably damaging	1.00
R5085:Ddr1	UTSW	17	35,993,667 (GRCm39)	critical splice acceptor site	probably null
R5112:Ddr1	UTSW	17	35,993,377 (GRCm39)	missense	probably benign
R5124:Ddr1	UTSW	17	35,994,489 (GRCm39)	missense	probably damaging	1.00
R5652:Ddr1	UTSW	17	35,997,400 (GRCm39)	missense	probably benign
R5653:Ddr1	UTSW	17	35,997,400 (GRCm39)	missense	probably benign
R5654:Ddr1	UTSW	17	35,997,400 (GRCm39)	missense	probably benign
R6427:Ddr1	UTSW	17	35,998,114 (GRCm39)	missense	probably benign
R7226:Ddr1	UTSW	17	36,002,039 (GRCm39)	missense	possibly damaging	0.94
R7405:Ddr1	UTSW	17	36,000,992 (GRCm39)	missense	probably damaging	1.00
R7534:Ddr1	UTSW	17	35,993,514 (GRCm39)	critical splice donor site	probably null
R7568:Ddr1	UTSW	17	35,995,174 (GRCm39)	missense	probably damaging	1.00
R8010:Ddr1	UTSW	17	36,002,384 (GRCm39)	missense	possibly damaging	0.93
R8736:Ddr1	UTSW	17	35,995,104 (GRCm39)	missense	probably damaging	0.96
R8889:Ddr1	UTSW	17	35,993,556 (GRCm39)	missense	probably benign	0.21
R8892:Ddr1	UTSW	17	35,993,556 (GRCm39)	missense	probably benign	0.21
R9224:Ddr1	UTSW	17	36,000,609 (GRCm39)	missense	probably damaging	0.96
R9457:Ddr1	UTSW	17	35,993,650 (GRCm39)	missense	possibly damaging	0.67
R9700:Ddr1	UTSW	17	35,993,288 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAAGGCTCTCCCATCTTCAAG -3'
(R):5'- ATGGTGTCTGGCCACAGTAG -3'

Sequencing Primer
(F):5'- GGCTTTAGGACTGGATAACCATC -3'
(R):5'- CACAGTAGAGCTCTGTTGCCATG -3'

Posted On

2016-03-01