Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03085:Cdh13'

418062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh13

Ensembl Gene

ENSMUSG00000031841

Gene Name

cadherin 13

Synonyms

T-cadherin, 4932416G01Rik, Tcad

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03085

Quality Score

Status

Chromosome

Chromosomal Location

119010472-120051660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120015463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 559 (D559E)

Ref Sequence

ENSEMBL: ENSMUSP00000113527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117160]

AlphaFold

Q9WTR5

PDB Structure

Crystal Structure of mouse T-cadherin EC1 EC2 [X-RAY DIFFRACTION]
Crystal structure of mouse T-cadherin EC1 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000117160
AA Change: D559E

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

SMART Domains

Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: D559E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Cadherin_pro	26	112	1.04e-17	SMART
CA	160	243	1.49e-18	SMART
CA	267	361	1.84e-23	SMART
CA	383	476	8.75e-16	SMART
CA	499	583	2.36e-21	SMART
CA	604	687	5.93e-2	SMART
low complexity region	695	714	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151842

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. This gene is highly expressed in the vasculature including endothelial cells, smooth muscle cells and pericytes, where the encoded protein binds to adiponectin and has been implicated in the modulation of angiogenesis. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 64,208,881 (GRCm39)	H230Q	probably benign	Het
Aagab	T	A	9: 63,546,316 (GRCm39)		probably benign	Het
Actl11	G	T	9: 107,806,749 (GRCm39)	K357N	probably damaging	Het
Aktip	A	G	8: 91,852,651 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,529,501 (GRCm39)		probably benign	Het
Arhgap21	T	A	2: 20,919,532 (GRCm39)	M58L	probably benign	Het
Art2b	T	A	7: 101,229,785 (GRCm39)	Y38F	probably damaging	Het
Asb10	T	C	5: 24,744,601 (GRCm39)		probably benign	Het
Atm	A	T	9: 53,395,471 (GRCm39)	D1699E	possibly damaging	Het
Azi2	A	C	9: 117,888,214 (GRCm39)	K259T	probably damaging	Het
Bcas3	A	G	11: 85,367,609 (GRCm39)	D77G	probably damaging	Het
Birc6	G	A	17: 74,903,945 (GRCm39)	R1246H	probably damaging	Het
Chrm3	C	T	13: 9,927,570 (GRCm39)	A489T	probably damaging	Het
Ckap2l	A	T	2: 129,126,967 (GRCm39)	Y404N	probably benign	Het
Col18a1	A	G	10: 76,895,015 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,272,198 (GRCm39)	K731*	probably null	Het
Corin	A	T	5: 72,511,273 (GRCm39)	C360S	probably damaging	Het
Cyp1a1	A	C	9: 57,608,995 (GRCm39)	H292P	possibly damaging	Het
Dennd5b	A	G	6: 148,928,893 (GRCm39)	V760A	probably damaging	Het
Dhx57	T	C	17: 80,565,526 (GRCm39)	D842G	possibly damaging	Het
Emp2	C	A	16: 10,105,910 (GRCm39)		probably benign	Het
Eral1	G	A	11: 77,969,093 (GRCm39)	R136C	probably damaging	Het
Fat2	T	A	11: 55,174,072 (GRCm39)	M2214L	probably benign	Het
Flnb	G	A	14: 7,882,211 (GRCm38)	R304H	probably benign	Het
G6pd2	A	T	5: 61,967,645 (GRCm39)	E473D	probably benign	Het
Gpx8	A	G	13: 113,179,795 (GRCm39)	Y169H	probably damaging	Het
Ighv1-64	A	G	12: 115,471,461 (GRCm39)	S19P	possibly damaging	Het
Ikbkb	G	T	8: 23,172,802 (GRCm39)	N139K	probably benign	Het
Inpp5b	A	T	4: 124,686,115 (GRCm39)	T720S	probably benign	Het
Kmt2d	C	A	15: 98,737,821 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,374,575 (GRCm39)	P169S	probably damaging	Het
Magi3	T	A	3: 103,922,655 (GRCm39)	K1354I	possibly damaging	Het
Mapk9	A	T	11: 49,757,865 (GRCm39)	D103V	probably damaging	Het
Mrpl46	A	T	7: 78,431,333 (GRCm39)	I75N	probably damaging	Het
Or3a1c	T	A	11: 74,046,511 (GRCm39)	I177N	probably damaging	Het
Or8b41	A	G	9: 38,054,479 (GRCm39)	E16G	probably damaging	Het
Or8d2b	G	A	9: 38,788,959 (GRCm39)	M162I	probably benign	Het
Otog	G	T	7: 45,955,346 (GRCm39)		probably null	Het
Pex11a	A	G	7: 79,387,523 (GRCm39)	L103P	probably damaging	Het
Pnpla8	A	G	12: 44,358,305 (GRCm39)	T687A	probably benign	Het
Ppm1d	A	G	11: 85,227,989 (GRCm39)	I302V	probably null	Het
Prdm11	C	A	2: 92,805,304 (GRCm39)	V549F	possibly damaging	Het
Prss54	G	A	8: 96,292,258 (GRCm39)	P107L	probably benign	Het
Rasa3	T	A	8: 13,635,690 (GRCm39)	N422I	probably benign	Het
Rbm27	T	C	18: 42,460,589 (GRCm39)		probably benign	Het
Rpl13-ps3	A	T	14: 59,131,156 (GRCm39)		noncoding transcript	Het
Rps6ka2	G	A	17: 7,562,679 (GRCm39)		probably null	Het
Sphkap	T	A	1: 83,258,075 (GRCm39)	I223F	possibly damaging	Het
Srm	T	C	4: 148,677,838 (GRCm39)	F159L	probably damaging	Het
Stt3a	A	G	9: 36,644,266 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,638,027 (GRCm39)	S395P	possibly damaging	Het
Tecpr2	A	G	12: 110,921,260 (GRCm39)		probably benign	Het
Tmub1	C	T	5: 24,651,096 (GRCm39)	G188S	probably damaging	Het
Trim66	T	A	7: 109,057,952 (GRCm39)	I877F	probably benign	Het
Ubr5	T	C	15: 38,029,812 (GRCm39)	E471G	probably damaging	Het
Vmn1r218	A	T	13: 23,321,481 (GRCm39)	Y196F	possibly damaging	Het
Vmn2r89	T	A	14: 51,689,615 (GRCm39)	D39E	probably damaging	Het
Wee1	C	A	7: 109,723,805 (GRCm39)	P240Q	probably damaging	Het
Zc3h12a	A	T	4: 125,020,813 (GRCm39)	V10D	probably benign	Het
Zzef1	T	C	11: 72,746,350 (GRCm39)		probably benign	Het

Other mutations in Cdh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Cdh13	APN	8	120,039,245 (GRCm39)	missense	possibly damaging	0.87
IGL00659:Cdh13	APN	8	120,039,406 (GRCm39)	missense	probably damaging	1.00
IGL01662:Cdh13	APN	8	119,401,916 (GRCm39)	missense	probably damaging	0.99
IGL01719:Cdh13	APN	8	119,401,927 (GRCm39)	missense	probably benign	0.01
IGL02148:Cdh13	APN	8	119,925,697 (GRCm39)	missense	probably damaging	1.00
IGL02157:Cdh13	APN	8	119,232,410 (GRCm39)	missense	possibly damaging	0.68
IGL02188:Cdh13	APN	8	119,578,500 (GRCm39)	missense	probably benign	0.08
IGL02490:Cdh13	APN	8	119,822,062 (GRCm39)	missense	probably damaging	1.00
IGL02851:Cdh13	APN	8	119,401,897 (GRCm39)	missense	probably benign	0.32
IGL02958:Cdh13	APN	8	120,039,460 (GRCm39)	missense	possibly damaging	0.90
IGL03230:Cdh13	APN	8	119,969,056 (GRCm39)	missense	probably damaging	1.00
IGL03280:Cdh13	APN	8	120,040,873 (GRCm39)	missense	probably damaging	1.00
K3955:Cdh13	UTSW	8	119,401,843 (GRCm39)	missense	probably damaging	0.99
P0038:Cdh13	UTSW	8	119,401,843 (GRCm39)	missense	probably damaging	0.99
R0398:Cdh13	UTSW	8	120,040,786 (GRCm39)	missense	probably damaging	1.00
R2156:Cdh13	UTSW	8	119,963,703 (GRCm39)	missense	probably damaging	1.00
R3415:Cdh13	UTSW	8	119,401,946 (GRCm39)	missense	probably benign	0.35
R4243:Cdh13	UTSW	8	119,968,996 (GRCm39)	missense	probably damaging	1.00
R4839:Cdh13	UTSW	8	119,578,587 (GRCm39)	nonsense	probably null
R4851:Cdh13	UTSW	8	119,484,129 (GRCm39)	missense	possibly damaging	0.75
R5129:Cdh13	UTSW	8	119,821,954 (GRCm39)	missense	probably damaging	1.00
R5453:Cdh13	UTSW	8	119,925,706 (GRCm39)	missense	probably damaging	1.00
R5607:Cdh13	UTSW	8	119,484,213 (GRCm39)	missense	probably benign
R5608:Cdh13	UTSW	8	119,484,213 (GRCm39)	missense	probably benign
R5610:Cdh13	UTSW	8	119,578,462 (GRCm39)	missense	possibly damaging	0.95
R6035:Cdh13	UTSW	8	119,232,437 (GRCm39)	missense	probably benign	0.03
R6035:Cdh13	UTSW	8	119,232,437 (GRCm39)	missense	probably benign	0.03
R6556:Cdh13	UTSW	8	119,694,926 (GRCm39)	missense	probably damaging	0.99
R7124:Cdh13	UTSW	8	119,694,912 (GRCm39)	missense	probably damaging	1.00
R7349:Cdh13	UTSW	8	119,969,097 (GRCm39)	missense	probably damaging	0.97
R7418:Cdh13	UTSW	8	120,039,264 (GRCm39)	missense	probably damaging	1.00
R7679:Cdh13	UTSW	8	119,963,658 (GRCm39)	missense	probably benign	0.29
R7807:Cdh13	UTSW	8	119,010,594 (GRCm39)	start codon destroyed	probably null	0.77
R8777:Cdh13	UTSW	8	119,963,706 (GRCm39)	critical splice donor site	probably null
R8777-TAIL:Cdh13	UTSW	8	119,963,706 (GRCm39)	critical splice donor site	probably null
R9175:Cdh13	UTSW	8	119,968,968 (GRCm39)	missense	probably damaging	1.00
R9481:Cdh13	UTSW	8	119,963,676 (GRCm39)	missense
X0025:Cdh13	UTSW	8	119,232,418 (GRCm39)	missense	probably benign	0.28

Posted On

2016-08-02