Mutagenetix > Incidental Mutation

Incidental Mutation 'R8892:Ddr1'

677789

Institutional Source

Beutler Lab

Gene Symbol

Ddr1

Ensembl Gene

ENSMUSG00000003534

Gene Name

discoidin domain receptor family, member 1

Synonyms

CD167a, Cak

MMRRC Submission

068695-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35992459-36015513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 35993556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 852 (I852S)

Ref Sequence

ENSEMBL: ENSMUSP00000003628 (fasta)

Gene Model

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

AlphaFold

Q03146

Predicted Effect

probably benign
Transcript: ENSMUST00000003628
AA Change: I852S

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000003628
Gene: ENSMUSG00000003534
AA Change: I852S

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
AA Change: I815S

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000094945
Gene: ENSMUSG00000003534
AA Change: I815S

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: I852S

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112570
Gene: ENSMUSG00000003534
AA Change: I852S

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: I852S

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113062
Gene: ENSMUSG00000003534
AA Change: I852S

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

probably benign
Transcript: ENSMUST00000166980
AA Change: I852S

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133047
Gene: ENSMUSG00000003534
AA Change: I852S

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

Meta Mutation Damage Score

0.7678

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Adpgk	A	G	9: 59,217,623 (GRCm39)	Y212C	probably damaging	Het
Ahcyl1	C	T	3: 107,579,378 (GRCm39)	D219N	probably benign	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Bbs1	A	C	19: 4,942,954 (GRCm39)	S479A	probably benign	Het
Bean1	A	T	8: 104,943,610 (GRCm39)	D231V	probably damaging	Het
Cacnb1	A	T	11: 97,901,192 (GRCm39)	V220E	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Chd9	A	G	8: 91,660,468 (GRCm39)	N476S	unknown	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Csmd3	T	A	15: 47,604,634 (GRCm39)	K1036N		Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Dhrs1	G	A	14: 55,977,404 (GRCm39)	A238V	possibly damaging	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Itih3	A	G	14: 30,637,635 (GRCm39)	V508A	probably benign	Het
Klhl14	T	G	18: 21,691,220 (GRCm39)	T437P	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lama4	T	A	10: 38,973,194 (GRCm39)	L1587Q	probably damaging	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Lrfn2	A	C	17: 49,377,376 (GRCm39)	E152D	probably damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Ly9	A	T	1: 171,421,465 (GRCm39)	D595E	possibly damaging	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Magi3	C	T	3: 103,958,141 (GRCm39)	G648D	probably damaging	Het
Mgll	T	A	6: 88,743,306 (GRCm39)	C109S	unknown	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Naa16	A	T	14: 79,628,016 (GRCm39)	F14I	probably benign	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1b1	C	A	2: 36,995,523 (GRCm39)	L46F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Pou2f1	A	T	1: 165,708,027 (GRCm39)	S552T	unknown	Het
Ppp2r3c	A	T	12: 55,336,453 (GRCm39)	L233Q	possibly damaging	Het
Prl8a1	G	A	13: 27,766,069 (GRCm39)	H9Y	possibly damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Slc39a6	A	T	18: 24,729,386 (GRCm39)	Y442*	probably null	Het
Slc44a2	G	A	9: 21,253,153 (GRCm39)		probably benign	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Spc24	G	A	9: 21,668,994 (GRCm39)	Q98*	probably null	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tango6	A	G	8: 107,468,845 (GRCm39)	I780M	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Top6bl	A	G	19: 4,699,721 (GRCm39)	V494A	possibly damaging	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Tyk2	T	C	9: 21,027,463 (GRCm39)	H503R	probably benign	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r160	G	A	7: 22,571,474 (GRCm39)	V276I	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r87	A	C	10: 130,308,105 (GRCm39)	I711S	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	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
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'- ACCGTGTTGAGCGCATCATC -3'
(R):5'- GAGGGGATAAATCTACTCCCACTG -3'

Sequencing Primer
(F):5'- CATCAGCTCATACAGGGTCTGTG -3'
(R):5'- AAATCTACTCCCACTGAGATTTTTC -3'

Posted On

2021-08-02