Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Ddr1'

714690

Institutional Source

Beutler Lab

Gene Symbol

Ddr1

Ensembl Gene

ENSMUSG00000003534

Gene Name

discoidin domain receptor family, member 1

Synonyms

CD167a, Cak

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35992459-36015513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35993650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 821 (A821T)

Ref Sequence

ENSEMBL: ENSMUSP00000003628 (fasta)

Gene Model

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

AlphaFold

Q03146

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003628
AA Change: A821T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: A821T

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

possibly damaging
Transcript: ENSMUST00000097333
AA Change: A784T

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: A784T

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

possibly damaging
Transcript: ENSMUST00000117301
AA Change: A821T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: A821T

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

possibly damaging
Transcript: ENSMUST00000119825
AA Change: A821T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: A821T

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: 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 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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166980
AA Change: A821T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: A821T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	T	C	10: 115,414,236 (GRCm39)	L54P	unknown	Het
Ablim3	A	G	18: 61,978,920 (GRCm39)	S204P	probably benign	Het
Acadl	A	G	1: 66,892,400 (GRCm39)	V141A	probably benign	Het
Ace3	A	G	11: 105,885,687 (GRCm39)	D31G	probably benign	Het
Acte1	T	C	7: 143,437,713 (GRCm39)	V137A	possibly damaging	Het
Adam11	T	G	11: 102,660,724 (GRCm39)	V85G	probably benign	Het
Adarb1	A	T	10: 77,157,982 (GRCm39)	M155K	possibly damaging	Het
Arhgap10	G	A	8: 78,111,415 (GRCm39)	T376M	probably benign	Het
Bod1l	G	T	5: 41,979,310 (GRCm39)	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,891,659 (GRCm39)	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329 (GRCm39)	I37N	probably damaging	Het
Cfap99	T	G	5: 34,458,741 (GRCm39)	F45L	probably benign	Het
Chsy1	C	A	7: 65,822,148 (GRCm39)	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,931,045 (GRCm39)	V45I	probably benign	Het
Clic3	G	A	2: 25,347,730 (GRCm39)	V32I	probably benign	Het
Clip2	A	T	5: 134,531,584 (GRCm39)	D740E	probably benign	Het
Col5a2	C	T	1: 45,426,004 (GRCm39)	V1062I	probably benign	Het
Col5a2	A	G	1: 45,431,973 (GRCm39)		probably null	Het
Cyp2j11	C	T	4: 96,195,596 (GRCm39)	V367I	probably damaging	Het
Dna2	G	A	10: 62,786,572 (GRCm39)	E107K	probably benign	Het
Eif3d	A	G	15: 77,843,894 (GRCm39)	V484A	probably benign	Het
Fgfr4	A	G	13: 55,308,940 (GRCm39)	T354A	probably benign	Het
Fkbp6	T	C	5: 135,378,486 (GRCm39)	D54G	probably benign	Het
Gm4787	T	A	12: 81,426,020 (GRCm39)	E46V	probably damaging	Het
Gm47995	A	G	1: 151,074,226 (GRCm39)	T10A	possibly damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Gphb5	A	T	12: 75,462,523 (GRCm39)	V22D	probably damaging	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Hmces	T	C	6: 87,910,256 (GRCm39)	V222A	possibly damaging	Het
Kat14	T	A	2: 144,215,702 (GRCm39)	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,236,018 (GRCm39)	V89E	probably benign	Het
Kif23	T	A	9: 61,851,507 (GRCm39)	N63I	probably benign	Het
Lamc2	T	C	1: 153,015,600 (GRCm39)	M578V	probably benign	Het
Ltbp2	A	T	12: 84,835,927 (GRCm39)	C1335S	probably benign	Het
Lyst	A	G	13: 13,862,330 (GRCm39)	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,532,793 (GRCm39)	H47L	probably benign	Het
Mical2	A	G	7: 112,010,665 (GRCm39)	K618R	probably damaging	Het
Mllt6	T	C	11: 97,556,586 (GRCm39)	I92T	probably benign	Het
Morc2a	A	G	11: 3,626,184 (GRCm39)	I223V	probably benign	Het
Msh3	A	T	13: 92,481,594 (GRCm39)	I306N	probably benign	Het
Myo3b	T	A	2: 69,925,553 (GRCm39)	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Oit3	T	A	10: 59,277,505 (GRCm39)	M1L	unknown	Het
Or4c1	A	T	2: 89,133,075 (GRCm39)	I287N	probably damaging	Het
Or51l14	T	A	7: 103,100,618 (GRCm39)	F25I	probably benign	Het
Or8k17	A	T	2: 86,066,816 (GRCm39)	I114K	probably damaging	Het
Peg3	T	G	7: 6,710,998 (GRCm39)	D1408A	probably damaging	Het
Plaa	A	C	4: 94,475,120 (GRCm39)	S201R	possibly damaging	Het
Potefam1	A	T	2: 111,000,631 (GRCm39)	M196K	unknown	Het
Psmd5	A	G	2: 34,744,338 (GRCm39)	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,176,474 (GRCm39)	I1701V	probably damaging	Het
Rmc1	A	G	18: 12,312,303 (GRCm39)	H181R	probably benign	Het
Rnf32	G	A	5: 29,411,184 (GRCm39)	A157T	probably damaging	Het
Rrad	T	A	8: 105,356,359 (GRCm39)		probably null	Het
Samm50	T	A	15: 84,092,042 (GRCm39)	L339Q	probably damaging	Het
Scin	T	C	12: 40,154,957 (GRCm39)	E212G	possibly damaging	Het
Scrib	T	C	15: 75,939,148 (GRCm39)	D146G	probably damaging	Het
Slc19a1	G	A	10: 76,885,605 (GRCm39)	D502N	probably benign	Het
Slc4a4	T	C	5: 89,362,432 (GRCm39)	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,704,141 (GRCm39)	D764G	probably damaging	Het
Slc6a19	G	A	13: 73,829,884 (GRCm39)	A590V	probably damaging	Het
Slfn8	G	T	11: 82,908,532 (GRCm39)	H4N	probably benign	Het
Smad9	T	A	3: 54,696,756 (GRCm39)	F274I	possibly damaging	Het
Snx4	A	G	16: 33,106,380 (GRCm39)	E271G	probably benign	Het
Spata31h1	A	G	10: 82,122,573 (GRCm39)	V3479A	probably benign	Het
Tektip1	C	A	10: 81,201,611 (GRCm39)	V4L	probably benign	Het
Thap4	G	A	1: 93,678,028 (GRCm39)	R253*	probably null	Het
Tmem65	T	A	15: 58,662,028 (GRCm39)	I144F		Het
Tnrc6a	G	A	7: 122,778,958 (GRCm39)	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,747,226 (GRCm39)	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,763,478 (GRCm39)	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,001,508 (GRCm39)	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,693,469 (GRCm39)	E273V	probably damaging	Het
Vps52	A	G	17: 34,181,156 (GRCm39)	D466G	probably damaging	Het
Xirp2	T	C	2: 67,345,976 (GRCm39)	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,168,675 (GRCm39)	S1003F	unknown	Het
Zyg11a	A	T	4: 108,075,102 (GRCm39)	H6Q	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
R4829:Ddr1	UTSW	17	35,996,005 (GRCm39)	missense	probably damaging	1.00
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
R9700:Ddr1	UTSW	17	35,993,288 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGGGACAGATGACCTTTAG -3'
(R):5'- TAGGATGGAGGCTCAGTACC -3'

Sequencing Primer
(F):5'- GACCTTTAGTTCCTGTAACAGCATG -3'
(R):5'- TGGAGGCTCAGTACCAGCATG -3'

Posted On

2022-06-15