Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Cdh13'

479154

Institutional Source

Beutler Lab

Gene Symbol

Cdh13

Ensembl Gene

ENSMUSG00000031841

Gene Name

cadherin 13

Synonyms

T-cadherin, 4932416G01Rik, Tcad

MMRRC Submission

044207-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6035 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119010472-120051660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119232437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 47 (D47G)

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 benign
Transcript: ENSMUST00000117160
AA Change: D47G

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: D47G

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: ENSMUST00000123567

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148836

Meta Mutation Damage Score

0.2391

Coding Region Coverage

1x: 99.8%
3x: 98.9%
10x: 91.8%
20x: 70.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,615,353 (GRCm39)	G76W	probably damaging	Het
Abca17	A	T	17: 24,500,219 (GRCm39)	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,862,686 (GRCm39)		probably null	Het
Abcc12	A	G	8: 87,244,033 (GRCm39)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,818,788 (GRCm39)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,122,377 (GRCm39)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,412,292 (GRCm39)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,968,721 (GRCm39)	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,621,424 (GRCm39)	Y392*	probably null	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 106,419,195 (GRCm39)	W749L	probably benign	Het
Ccar1	A	G	10: 62,587,564 (GRCm39)	Y867H	unknown	Het
Chst9	T	A	18: 15,585,910 (GRCm39)	T218S	probably benign	Het
Clec2i	G	A	6: 128,870,587 (GRCm39)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,667,028 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,519,030 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,674,929 (GRCm39)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,909,013 (GRCm39)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,681,781 (GRCm39)	M307V	probably benign	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,476,423 (GRCm39)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,427,985 (GRCm39)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,240,335 (GRCm39)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,423,385 (GRCm39)	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,791,605 (GRCm39)	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,338,450 (GRCm39)	I394T	possibly damaging	Het
Glmn	T	A	5: 107,741,746 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,501,025 (GRCm39)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,658,449 (GRCm39)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,206,306 (GRCm39)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 89,018,962 (GRCm39)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Il5ra	G	A	6: 106,718,226 (GRCm39)	T76I	probably damaging	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnh6	G	A	11: 105,909,978 (GRCm39)		probably null	Het
Krt26	C	T	11: 99,224,415 (GRCm39)	E368K	probably benign	Het
Lhx9	T	C	1: 138,766,281 (GRCm39)	D169G	possibly damaging	Het
Lmod3	A	G	6: 97,224,234 (GRCm39)	L529P	probably damaging	Het
Mroh2a	G	A	1: 88,158,390 (GRCm39)	V146M	probably damaging	Het
Nup155	A	G	15: 8,173,577 (GRCm39)	T891A	probably benign	Het
Or11g24	A	G	14: 50,661,984 (GRCm39)	T3A	probably benign	Het
Or1e1	T	C	11: 73,244,582 (GRCm39)	M1T	probably null	Het
Or1j13	T	A	2: 36,369,996 (GRCm39)	I49F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,285 (GRCm39)	*145R	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	C	12: 83,821,454 (GRCm39)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,423,435 (GRCm39)	V160I	probably benign	Het
Pde8b	A	G	13: 95,164,105 (GRCm39)		probably benign	Het
Ppme1	G	A	7: 100,004,002 (GRCm39)	R68*	probably null	Het
Ptprn2	A	T	12: 117,219,215 (GRCm39)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,617,468 (GRCm39)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 115,954,666 (GRCm39)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,545,387 (GRCm39)	D420V	probably damaging	Het
Ros1	G	T	10: 51,954,067 (GRCm39)	S1857R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsf1	A	G	7: 97,311,316 (GRCm39)	E682G	probably benign	Het
Samd4	G	A	14: 47,325,329 (GRCm39)	R515H	probably damaging	Het
Selp	T	A	1: 163,969,079 (GRCm39)	W560R	probably benign	Het
Shc3	A	T	13: 51,615,468 (GRCm39)	L163Q	probably damaging	Het
Shh	G	A	5: 28,666,397 (GRCm39)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,427,937 (GRCm39)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,206,168 (GRCm39)		probably benign	Het
Smarcd2	A	G	11: 106,157,715 (GRCm39)		probably null	Het
Sytl3	A	G	17: 6,995,664 (GRCm39)	D148G	probably damaging	Het
Tnks	G	T	8: 35,385,615 (GRCm39)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,179,568 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,806,161 (GRCm39)	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,287,541 (GRCm39)	I209V	probably benign	Het
Usp1	A	G	4: 98,818,082 (GRCm39)	N140S	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,094,534 (GRCm39)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,990,202 (GRCm39)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 12,818,854 (GRCm39)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,337,350 (GRCm39)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,916,830 (GRCm39)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,757,005 (GRCm39)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,621,463 (GRCm39)	N901K	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
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
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

Posted On

2017-06-26