Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Ddr1'

699732

Institutional Source

Beutler Lab

Gene Symbol

Ddr1

Ensembl Gene

ENSMUSG00000003534

Gene Name

discoidin domain receptor family, member 1

Synonyms

CD167a, Cak

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35992459-36015513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 36000609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 352 (F352C)

Ref Sequence

ENSEMBL: ENSMUSP00000003628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003628] [ENSMUST00000097333] [ENSMUST00000117301] [ENSMUST00000119825] [ENSMUST00000134995] [ENSMUST00000135078] [ENSMUST00000145900] [ENSMUST00000146472] [ENSMUST00000148065] [ENSMUST00000155628] [ENSMUST00000155957] [ENSMUST00000166980]

AlphaFold

Q03146

Predicted Effect

probably damaging
Transcript: ENSMUST00000003628
AA Change: F352C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: F352C

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: F352C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: F352C

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: F352C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: F352C

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: F352C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: F352C

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: ENSMUST00000135078

SMART Domains

Protein: ENSMUSP00000122191
Gene: ENSMUSG00000003534

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:4AG4\|A	30	89	5e-22	PDB
Blast:FA58C	31	89	6e-25	BLAST
SCOP:d1d7pm_	32	78	5e-11	SMART

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: 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 damaging
Transcript: ENSMUST00000155628
AA Change: F352C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133659
Gene: ENSMUSG00000003534
AA Change: F352C

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

probably damaging
Transcript: ENSMUST00000166980
AA Change: F352C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: F352C

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,100 (GRCm39)	S229L	possibly damaging	Het
Actc1	TGA	T	2: 113,879,710 (GRCm39)		probably null	Het
Actl9	G	A	17: 33,653,004 (GRCm39)	A355T	probably benign	Het
Adamts8	A	G	9: 30,854,188 (GRCm39)	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,130,695 (GRCm39)	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,598,770 (GRCm39)	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,150,111 (GRCm39)	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,409,167 (GRCm39)	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,516,190 (GRCm39)	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,319,091 (GRCm39)	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,805,854 (GRCm39)	V56A	probably damaging	Het
Bsn	C	A	9: 107,982,686 (GRCm39)	R917L		Het
Cabyr	T	G	18: 12,887,278 (GRCm39)	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,292,512 (GRCm39)	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,122,174 (GRCm39)	N235D	unknown	Het
Ccdc61	T	C	7: 18,637,746 (GRCm39)	M37V	probably benign	Het
Cd40	A	T	2: 164,898,716 (GRCm39)	I48F	unknown	Het
Cdk13	A	T	13: 17,941,071 (GRCm39)	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cfap46	T	A	7: 139,258,416 (GRCm39)	R286*	probably null	Het
Ckap2	A	C	8: 22,659,954 (GRCm39)	I509S	possibly damaging	Het
Clptm1l	A	T	13: 73,752,344 (GRCm39)		probably benign	Het
Col11a1	T	G	3: 114,001,929 (GRCm39)	M1591R	unknown	Het
Col6a5	C	A	9: 105,814,594 (GRCm39)	A473S	unknown	Het
Cxcr2	T	A	1: 74,197,756 (GRCm39)	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,527,332 (GRCm39)	C226Y	probably benign	Het
Defb22	T	A	2: 152,327,721 (GRCm39)	T155S	unknown	Het
Dennd4c	G	T	4: 86,738,170 (GRCm39)	E935*	probably null	Het
Dst	A	C	1: 34,330,879 (GRCm39)	E4889D	probably damaging	Het
Efcab3	A	G	11: 104,661,801 (GRCm39)	Q1314R	probably benign	Het
Emilin1	T	A	5: 31,074,823 (GRCm39)	C355S	probably damaging	Het
Enpp3	C	T	10: 24,650,716 (GRCm39)	V807I	probably benign	Het
Fcnb	T	A	2: 27,969,160 (GRCm39)	D179V	probably damaging	Het
Ficd	T	A	5: 113,875,196 (GRCm39)	D88E	probably benign	Het
Fndc3b	T	C	3: 27,524,450 (GRCm39)	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,853,105 (GRCm39)	W566R	probably benign	Het
Gm14403	A	G	2: 177,200,336 (GRCm39)	Q94R	probably benign	Het
Gm32687	T	A	10: 81,714,866 (GRCm39)	I86N	probably benign	Het
Gpam	T	G	19: 55,075,907 (GRCm39)	D235A	probably damaging	Het
Gstt4	T	C	10: 75,651,046 (GRCm39)	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,644,309 (GRCm39)	V97G	probably benign	Het
Hcn1	G	A	13: 118,062,254 (GRCm39)	G507S	unknown	Het
Hydin	T	C	8: 111,259,516 (GRCm39)	I2496T	probably benign	Het
Jund	A	G	8: 71,151,864 (GRCm39)	D53G	probably damaging	Het
Kat6b	T	A	14: 21,720,031 (GRCm39)	M1461K	probably benign	Het
Lnx1	T	G	5: 74,766,810 (GRCm39)	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,658,161 (GRCm39)	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Ly6c1	T	A	15: 74,916,465 (GRCm39)	T126S	probably benign	Het
Macf1	A	G	4: 123,326,690 (GRCm39)	S4938P	probably damaging	Het
Map2k2	T	C	10: 80,954,008 (GRCm39)	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,456,973 (GRCm39)	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,939,467 (GRCm39)	V23E	possibly damaging	Het
Med30	T	G	15: 52,582,839 (GRCm39)	L92R	probably damaging	Het
Mroh8	C	T	2: 157,063,069 (GRCm39)	G851S	possibly damaging	Het
Msmb	T	A	14: 31,880,060 (GRCm39)	C83*	probably null	Het
Mtif2	A	T	11: 29,494,364 (GRCm39)	R655S	probably benign	Het
Myo10	C	T	15: 25,808,081 (GRCm39)	S1901L	probably benign	Het
Myom2	A	T	8: 15,178,804 (GRCm39)	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,075,441 (GRCm39)	I67V	probably damaging	Het
Ncam1	A	G	9: 49,419,995 (GRCm39)	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089 (GRCm39)	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,332,829 (GRCm39)	K110*	probably null	Het
Nlrp9b	T	C	7: 19,753,217 (GRCm39)	S41P	probably benign	Het
Nlrp9b	A	G	7: 19,757,476 (GRCm39)	T238A	probably benign	Het
Noxo1	A	T	17: 24,919,305 (GRCm39)	E342D	probably benign	Het
Nt5dc2	T	C	14: 30,857,665 (GRCm39)	M55T	probably benign	Het
Or1j14	A	T	2: 36,417,838 (GRCm39)	Q138L	probably benign	Het
Or2ag18	T	C	7: 106,405,489 (GRCm39)	Y60C	probably damaging	Het
Or2f1	T	C	6: 42,721,904 (GRCm39)	F311S	probably benign	Het
Or2h2c	T	C	17: 37,422,767 (GRCm39)	T36A	possibly damaging	Het
Or5al6	T	A	2: 85,976,220 (GRCm39)	N286I	probably damaging	Het
Or6c210	C	A	10: 129,496,007 (GRCm39)	L111M	probably damaging	Het
Or6c6	T	A	10: 129,186,450 (GRCm39)	M6K	probably benign	Het
Or9s18	C	T	13: 65,300,203 (GRCm39)	T55I	probably damaging	Het
P4ha2	C	T	11: 54,009,963 (GRCm39)	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,139,073 (GRCm39)	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,438,415 (GRCm39)	A457T	probably benign	Het
Pira12	T	C	7: 3,900,234 (GRCm39)	T123A	probably benign	Het
Pkp4	T	C	2: 59,144,738 (GRCm39)	V533A	probably benign	Het
Plac8l1	T	C	18: 42,325,702 (GRCm39)	T68A	possibly damaging	Het
Pou2f3	A	T	9: 43,050,694 (GRCm39)	I222N	probably damaging	Het
Ppp1r14d	T	C	2: 119,060,222 (GRCm39)	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,265,729 (GRCm39)	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,146,599 (GRCm39)	I199N	probably damaging	Het
Prune2	A	G	19: 17,097,393 (GRCm39)	T966A	probably damaging	Het
Ptdss2	T	C	7: 140,734,798 (GRCm39)	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,857,236 (GRCm39)		probably null	Het
Rin2	T	A	2: 145,720,822 (GRCm39)	C718*	probably null	Het
Rptor	C	T	11: 119,785,113 (GRCm39)	T1170I	probably benign	Het
Samd5	T	C	10: 9,550,259 (GRCm39)	Y150C	probably damaging	Het
Setd1b	T	C	5: 123,296,773 (GRCm39)	S1245P	unknown	Het
Sipa1l2	T	C	8: 126,218,716 (GRCm39)	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,897,153 (GRCm39)	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,541,261 (GRCm39)	I372S	possibly damaging	Het
Slc7a10	T	A	7: 34,894,639 (GRCm39)	Y99*	probably null	Het
Smco3	A	G	6: 136,808,517 (GRCm39)	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,336,154 (GRCm39)	T10I	probably benign	Het
Sri	T	A	5: 8,113,323 (GRCm39)	W105R	probably damaging	Het
Stk35	T	C	2: 129,652,491 (GRCm39)	Y331H	probably damaging	Het
Tipin	T	C	9: 64,195,430 (GRCm39)	I12T	probably benign	Het
Tlr5	A	G	1: 182,802,693 (GRCm39)	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,640,003 (GRCm39)	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,115,556 (GRCm39)	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,527,512 (GRCm39)	T421A	probably benign	Het
Trrap	T	A	5: 144,708,049 (GRCm39)	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,751,847 (GRCm39)	Y162N	probably damaging	Het
Uck2	A	T	1: 167,065,171 (GRCm39)	V49E	probably damaging	Het
Vcam1	A	T	3: 115,904,592 (GRCm39)	Y718*	probably null	Het
Zan	T	C	5: 137,472,269 (GRCm39)	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788 (GRCm39)	L750P	probably damaging	Het
Zfp54	A	T	17: 21,654,037 (GRCm39)	Y177F	probably benign	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
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'- AAGGACTGGGGTCTGATTATTC -3'
(R):5'- TGGCCTTGACTCAGTGTCTC -3'

Sequencing Primer
(F):5'- CTGCCTTAGTTTGAGAATCTCGTAG -3'
(R):5'- TGTAACAACATGCACACTCTGGG -3'

Posted On

2022-02-07