Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Ddr1'

441531

Institutional Source

Beutler Lab

Gene Symbol

Ddr1

Ensembl Gene

ENSMUSG00000003534

Gene Name

discoidin domain receptor family, member 1

Synonyms

CD167a, Cak

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R5652 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

35992459-36015513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35997400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 531 (A531T)

Ref Sequence

ENSEMBL: ENSMUSP00000133047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003628] [ENSMUST00000097333] [ENSMUST00000117301] [ENSMUST00000119825] [ENSMUST00000134995] [ENSMUST00000145900] [ENSMUST00000146472] [ENSMUST00000166980] [ENSMUST00000148065] [ENSMUST00000155628] [ENSMUST00000155957]

AlphaFold

Q03146

Predicted Effect

probably benign
Transcript: ENSMUST00000003628
AA Change: A531T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: A531T

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: ENSMUST00000097333

SMART Domains

Protein: ENSMUSP00000094945
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
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 benign
Transcript: ENSMUST00000117301
AA Change: A531T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: A531T

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 benign
Transcript: ENSMUST00000119825
AA Change: A531T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: A531T

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: ENSMUST00000145900

SMART Domains

Protein: ENSMUSP00000122361
Gene: ENSMUSG00000003534

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146472

SMART Domains

Protein: ENSMUSP00000119397
Gene: ENSMUSG00000003534

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166980
AA Change: A531T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: A531T

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: 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 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

0.0868

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,856,339 (GRCm39)	I334V	probably benign	Het
Adamts5	C	T	16: 85,696,156 (GRCm39)	A334T	probably damaging	Het
Adcy4	G	C	14: 56,010,900 (GRCm39)	F672L	probably benign	Het
Adgrl1	A	G	8: 84,656,444 (GRCm39)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,174,065 (GRCm39)	S115P	probably damaging	Het
Aox1	A	T	1: 58,134,356 (GRCm39)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 64,915,064 (GRCm39)	N401K	probably damaging	Het
Atp23	A	T	10: 126,735,494 (GRCm39)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,304,051 (GRCm39)	D2364G	probably null	Het
Celsr3	G	A	9: 108,715,671 (GRCm39)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,389,279 (GRCm39)	S1518P	probably damaging	Het
Clcn3	C	A	8: 61,372,387 (GRCm39)	V758L	possibly damaging	Het
Cmklr2	A	G	1: 63,222,626 (GRCm39)	V203A	probably benign	Het
Ctsf	T	C	19: 4,908,505 (GRCm39)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,575,484 (GRCm39)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Dennd1a	A	G	2: 37,691,138 (GRCm39)	I260T	probably benign	Het
Dgkh	T	C	14: 78,865,201 (GRCm39)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,632,422 (GRCm39)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm39)	M66K	probably benign	Het
Fam186a	T	G	15: 99,843,253 (GRCm39)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fat4	C	T	3: 39,057,117 (GRCm39)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,679,705 (GRCm39)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 129,863,593 (GRCm39)	V18M	probably damaging	Het
Gpa33	A	C	1: 165,992,714 (GRCm39)		probably null	Het
Gpr107	A	G	2: 31,075,601 (GRCm39)	I371V	probably benign	Het
H1f6	A	G	13: 23,880,219 (GRCm39)	K124R	probably benign	Het
Hectd2	T	C	19: 36,581,720 (GRCm39)	V420A	probably damaging	Het
Iglc3	A	G	16: 18,884,420 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,455 (GRCm39)	T209A	probably benign	Het
Itgb7	T	A	15: 102,124,638 (GRCm39)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,228,992 (GRCm39)	R870C	probably damaging	Het
Kcnh6	C	T	11: 105,899,811 (GRCm39)	R27C	probably damaging	Het
Kif2b	T	A	11: 91,466,656 (GRCm39)	E542D	possibly damaging	Het
Klhl24	C	A	16: 19,938,997 (GRCm39)	Y517*	probably null	Het
Klhl25	A	G	7: 75,515,895 (GRCm39)	D267G	probably benign	Het
Krr1	C	A	10: 111,813,288 (GRCm39)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,658,456 (GRCm39)	G95D	probably damaging	Het
Matcap2	A	G	9: 22,335,786 (GRCm39)	T135A	probably benign	Het
Med15	A	T	16: 17,473,055 (GRCm39)	I504N	probably damaging	Het
Mug1	A	G	6: 121,817,140 (GRCm39)	R70G	probably benign	Het
Mypn	T	A	10: 62,971,580 (GRCm39)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,330,803 (GRCm39)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,207,646 (GRCm39)	V213M	probably benign	Het
Or5ak4	T	A	2: 85,161,717 (GRCm39)	N175I	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or7g16	A	G	9: 18,726,922 (GRCm39)	S223P	probably damaging	Het
Or8c13	T	C	9: 38,092,111 (GRCm39)	T3A	probably benign	Het
Orc2	A	G	1: 58,505,231 (GRCm39)	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,604,289 (GRCm39)	L183*	probably null	Het
Pcdh20	T	C	14: 88,704,760 (GRCm39)	T847A	probably damaging	Het
Pcdha6	G	A	18: 37,101,889 (GRCm39)		probably null	Het
Pip5k1a	T	C	3: 94,974,750 (GRCm39)	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,859,889 (GRCm39)	E573G	probably benign	Het
Pkp1	T	A	1: 135,810,335 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,491,438 (GRCm39)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,656,318 (GRCm39)	S328P	probably benign	Het
Raver1	A	G	9: 21,001,608 (GRCm39)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,408 (GRCm39)	E511G	probably damaging	Het
Satb1	T	A	17: 52,049,823 (GRCm39)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,431,135 (GRCm39)	V248A	probably benign	Het
Sema7a	A	G	9: 57,867,942 (GRCm39)	D506G	probably damaging	Het
Septin8	A	G	11: 53,428,044 (GRCm39)	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,372,812 (GRCm39)	I660V	probably damaging	Het
Stk38l	G	T	6: 146,674,826 (GRCm39)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,000,498 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,062 (GRCm39)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 137,881,775 (GRCm39)	R305C	probably damaging	Het
Tek	T	A	4: 94,743,561 (GRCm39)	Y859N	probably damaging	Het
Tjp1	A	T	7: 64,962,191 (GRCm39)		probably null	Het
Tmem132d	A	T	5: 127,861,859 (GRCm39)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,063,424 (GRCm39)	V1580I	probably benign	Het
Troap	A	G	15: 98,980,145 (GRCm39)	T442A	probably benign	Het
Ttn	A	T	2: 76,712,097 (GRCm39)		probably benign	Het
Twnk	T	A	19: 44,995,732 (GRCm39)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,255,234 (GRCm39)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,760,781 (GRCm39)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,577,430 (GRCm39)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,656,029 (GRCm39)	V746A	probably damaging	Het
Yae1d1	A	G	13: 18,166,291 (GRCm39)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,349,137 (GRCm39)	R476*	probably null	Het
Zmynd8	T	A	2: 165,649,618 (GRCm39)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,763,495 (GRCm39)	H414L	possibly 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
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'- AGCTAAGACCAGCAGCCTTC -3'
(R):5'- TTTCCATTACTCCAGAGGGGC -3'

Sequencing Primer
(F):5'- ACCAGCAGCCTTCCCCTTG -3'
(R):5'- ATTACTCCAGAGGGGCCTTGC -3'

Posted On

2016-11-08