Mutagenetix > Incidental Mutation

Incidental Mutation 'R2156:Cdh13'

234825

Institutional Source

Beutler Lab

Gene Symbol

Cdh13

Ensembl Gene

ENSMUSG00000031841

Gene Name

cadherin 13

Synonyms

T-cadherin, 4932416G01Rik, Tcad

MMRRC Submission

040159-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2156 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119010472-120051660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119963703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 428 (K428E)

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: K428E

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

SMART Domains

Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: K428E

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: ENSMUST00000212476

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,313,134 (GRCm39)		probably null	Het
Acaa2	T	C	18: 74,926,476 (GRCm39)		probably null	Het
Adam7	T	C	14: 68,748,792 (GRCm39)	Q485R	probably benign	Het
Adcy4	T	G	14: 56,006,627 (GRCm39)	T1069P	probably benign	Het
Arsj	T	C	3: 126,232,337 (GRCm39)	L361P	probably damaging	Het
Birc2	A	C	9: 7,826,939 (GRCm39)	L349R	probably damaging	Het
C1qa	T	C	4: 136,623,727 (GRCm39)	Y159C	probably damaging	Het
Cenpe	T	C	3: 134,953,235 (GRCm39)	M1563T	probably benign	Het
Col10a1	T	C	10: 34,271,696 (GRCm39)	V556A	probably benign	Het
Creg2	G	A	1: 39,662,338 (GRCm39)	L265F	probably damaging	Het
Cyp1a2	T	A	9: 57,589,433 (GRCm39)	D127V	probably damaging	Het
Cyp3a44	A	T	5: 145,740,480 (GRCm39)	Y53*	probably null	Het
Cyth1	C	T	11: 118,073,634 (GRCm39)	R233Q	probably damaging	Het
Dnmbp	G	A	19: 43,890,346 (GRCm39)	H474Y	possibly damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ercc2	G	A	7: 19,120,717 (GRCm39)	R206H	possibly damaging	Het
Evx2	T	A	2: 74,486,360 (GRCm39)	H343L	probably damaging	Het
Fcrl2	T	A	3: 87,164,648 (GRCm39)	I293F	probably benign	Het
Gcnt4	A	G	13: 97,082,974 (GRCm39)	E90G	probably damaging	Het
Gid8	T	G	2: 180,358,751 (GRCm39)	C139G	probably benign	Het
Gm11938	C	A	11: 99,493,933 (GRCm39)	C54F	probably damaging	Het
Gm3336	G	A	8: 71,174,509 (GRCm39)	V158I	probably benign	Het
Gucy1b1	T	C	3: 81,968,327 (GRCm39)	N60D	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hsp90ab1	A	G	17: 45,880,629 (GRCm39)	F361L	possibly damaging	Het
Igf2bp3	A	T	6: 49,085,858 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,775,118 (GRCm39)	I772N	probably damaging	Het
Iqca1	A	G	1: 90,017,238 (GRCm39)	L390P	possibly damaging	Het
Itgb2	C	T	10: 77,396,082 (GRCm39)	R586W	probably benign	Het
Itih1	A	G	14: 30,655,432 (GRCm39)	S588P	possibly damaging	Het
Iyd	T	A	10: 3,497,166 (GRCm39)		probably null	Het
Kl	A	G	5: 150,912,425 (GRCm39)	K725E	probably benign	Het
Layn	T	A	9: 50,968,697 (GRCm39)	M349L	probably benign	Het
Map3k5	T	C	10: 19,900,683 (GRCm39)	Y286H	probably damaging	Het
Med4	C	T	14: 73,755,472 (GRCm39)		probably benign	Het
Mfn1	T	A	3: 32,588,400 (GRCm39)	N42K	possibly damaging	Het
Mindy2	T	C	9: 70,563,874 (GRCm39)	D152G	probably benign	Het
Mrc2	A	G	11: 105,238,682 (GRCm39)		probably null	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Msh6	G	A	17: 88,293,568 (GRCm39)	W774*	probably null	Het
Mtch1	A	T	17: 29,561,841 (GRCm39)	V121E	probably damaging	Het
Mtg2	G	T	2: 179,725,923 (GRCm39)	E178*	probably null	Het
Nbas	A	T	12: 13,491,510 (GRCm39)	N1461Y	probably damaging	Het
Ndfip2	A	G	14: 105,525,204 (GRCm39)	T65A	probably benign	Het
Ninl	G	T	2: 150,786,503 (GRCm39)	Q1146K	probably damaging	Het
Notch1	T	C	2: 26,350,873 (GRCm39)	D2089G	possibly damaging	Het
Notch3	C	T	17: 32,366,818 (GRCm39)	V906M	probably damaging	Het
Or51l14	A	G	7: 103,101,371 (GRCm39)	I276V	probably benign	Het
Or6b6	A	G	7: 106,570,775 (GRCm39)	Y259H	probably damaging	Het
Osmr	A	T	15: 6,873,891 (GRCm39)	Y169N	probably benign	Het
Ovgp1	T	C	3: 105,885,033 (GRCm39)	V124A	possibly damaging	Het
P2rx1	T	C	11: 72,904,939 (GRCm39)	M369T	probably benign	Het
Pde4dip	T	C	3: 97,631,534 (GRCm39)	Q1125R	probably damaging	Het
Podn	A	T	4: 107,878,892 (GRCm39)	V180E	probably damaging	Het
Pold1	A	T	7: 44,188,542 (GRCm39)	V475E	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Satb1	G	T	17: 52,047,438 (GRCm39)	Q595K	probably benign	Het
Scaf8	T	A	17: 3,214,407 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,585,128 (GRCm39)	M261L	probably benign	Het
Serpinb3a	C	T	1: 106,975,202 (GRCm39)		probably null	Het
Slc22a26	T	C	19: 7,779,480 (GRCm39)	D112G	probably damaging	Het
Slc25a23	A	G	17: 57,352,562 (GRCm39)	F441L	probably benign	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slc6a15	T	C	10: 103,229,269 (GRCm39)	Y103H	probably damaging	Het
Slx4	A	G	16: 3,804,223 (GRCm39)	S864P	probably benign	Het
Snap91	T	C	9: 86,707,130 (GRCm39)	E220G	probably damaging	Het
Spam1	T	C	6: 24,796,267 (GRCm39)	F73L	probably damaging	Het
Sphkap	C	T	1: 83,255,710 (GRCm39)	V393M	probably benign	Het
Spred2	T	C	11: 19,971,241 (GRCm39)	Y370H	probably damaging	Het
Sqle	T	C	15: 59,195,578 (GRCm39)		probably null	Het
Srrm2	A	G	17: 24,037,237 (GRCm39)	T1390A	probably benign	Het
Tas1r2	A	G	4: 139,396,352 (GRCm39)	R564G	possibly damaging	Het
Tbl2	G	T	5: 135,185,374 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,901 (GRCm39)	D606G	possibly damaging	Het
Tdpoz3	T	A	3: 93,734,087 (GRCm39)	L254H	probably damaging	Het
Trpm1	A	T	7: 63,884,736 (GRCm39)	I806F	probably damaging	Het
Ttc22	A	G	4: 106,496,237 (GRCm39)	D429G	probably benign	Het
Ube2o	C	A	11: 116,471,972 (GRCm39)	G90C	probably damaging	Het
Usp34	T	A	11: 23,332,602 (GRCm39)	F1110I	probably damaging	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Vps35	A	G	8: 86,013,129 (GRCm39)	V116A	probably benign	Het
Wdfy3	A	G	5: 102,046,291 (GRCm39)		probably null	Het
Zeb2	T	C	2: 44,878,821 (GRCm39)	K1138E	probably benign	Het
Zfp513	G	A	5: 31,357,866 (GRCm39)	T169I	probably benign	Het
Zfp629	T	C	7: 127,211,551 (GRCm39)	D86G	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
IGL03085:Cdh13	APN	8	120,015,463 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCAAGCCACAGTGGAGGAG -3'
(R):5'- AGATCAAGGTTCCTGCTCTGC -3'

Sequencing Primer
(F):5'- CCACAGTGGAGGAGGGAGC -3'
(R):5'- CCTGCCTTAGAAGCAAACAGGG -3'

Posted On

2014-10-01