Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777:Cdh13'

664753

Institutional Source

Beutler Lab

Gene Symbol

Cdh13

Ensembl Gene

ENSMUSG00000031841

Gene Name

cadherin 13

Synonyms

T-cadherin, 4932416G01Rik, Tcad

MMRRC Submission

068720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8777 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119010472-120051660 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 119963706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113527 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841

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

probably null
Transcript: ENSMUST00000117160

SMART Domains

Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,894 (GRCm39)	T816S	probably benign	Het
Aff4	G	A	11: 53,290,783 (GRCm39)	S581N	probably damaging	Het
Aimp2	G	A	5: 143,839,825 (GRCm39)	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,254,611 (GRCm39)	S35A	probably benign	Het
Atp1a4	A	T	1: 172,059,869 (GRCm39)	Y787N	probably damaging	Het
Btbd8	T	G	5: 107,658,293 (GRCm39)	I1621R	probably damaging	Het
Ccdc169	T	C	3: 55,058,334 (GRCm39)	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,801,793 (GRCm39)	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,893,282 (GRCm39)	T101I	probably benign	Het
Clec1b	A	T	6: 129,380,537 (GRCm39)	E151V	probably benign	Het
Cplx1	T	A	5: 108,673,435 (GRCm39)		probably null	Het
Diablo	T	A	5: 123,655,990 (GRCm39)	I150F	unknown	Het
Esp31	T	C	17: 38,955,582 (GRCm39)	V75A	probably benign	Het
Gm49336	G	A	14: 60,466,185 (GRCm39)	L458F	probably damaging	Het
Grin3b	A	T	10: 79,808,972 (GRCm39)	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,727,432 (GRCm39)	N182S	probably damaging	Het
Hephl1	T	G	9: 14,972,090 (GRCm39)	D950A	probably benign	Het
Hkdc1	A	G	10: 62,234,612 (GRCm39)	I556T	possibly damaging	Het
Ints4	C	A	7: 97,134,227 (GRCm39)	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,745,712 (GRCm39)	V124A	possibly damaging	Het
Lrpprc	T	A	17: 85,058,657 (GRCm39)	Q734H	probably benign	Het
Map1b	T	C	13: 99,567,304 (GRCm39)	T1806A	unknown	Het
Mcmbp	A	T	7: 128,308,855 (GRCm39)	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,141,237 (GRCm39)	G422S	probably damaging	Het
Mgam	A	G	6: 40,632,185 (GRCm39)	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422 (GRCm39)	G200S	probably benign	Het
Myh13	A	T	11: 67,252,161 (GRCm39)	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,083,398 (GRCm39)	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,913,089 (GRCm39)	V70I	probably benign	Het
Myof	A	G	19: 37,968,841 (GRCm39)	V358A	probably benign	Het
Ncor1	T	A	11: 62,324,492 (GRCm39)	I48F	probably benign	Het
Ncor1	T	A	11: 62,324,494 (GRCm39)	H47L	probably damaging	Het
Neurog2	G	T	3: 127,427,742 (GRCm39)	R122L	probably damaging	Het
Npdc1	T	A	2: 25,298,129 (GRCm39)	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,227,234 (GRCm39)	N290D	probably damaging	Het
Nynrin	T	C	14: 56,109,120 (GRCm39)	M1409T	probably benign	Het
Oas1h	T	C	5: 121,005,107 (GRCm39)	L185P	probably damaging	Het
Or10x4	A	T	1: 174,218,848 (GRCm39)	Y71F	probably damaging	Het
Or2z2	C	T	11: 58,346,757 (GRCm39)	W6*	probably null	Het
Or6c3	T	A	10: 129,309,374 (GRCm39)	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,128,974 (GRCm39)	N853K	probably benign	Het
Pcsk4	G	T	10: 80,159,557 (GRCm39)	P405Q	probably benign	Het
Piwil4	A	C	9: 14,650,685 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,361,967 (GRCm39)	Y547H	probably damaging	Het
Pramel40	A	G	5: 94,465,027 (GRCm39)	D471G	probably benign	Het
Rft1	T	C	14: 30,382,156 (GRCm39)	L51P	probably damaging	Het
Rufy2	T	G	10: 62,833,660 (GRCm39)	L241V	possibly damaging	Het
Slc5a5	T	C	8: 71,343,934 (GRCm39)	I155V	possibly damaging	Het
Slc7a2	T	G	8: 41,351,991 (GRCm39)	M18R	probably damaging	Het
Snapc4	A	G	2: 26,259,375 (GRCm39)	S592P	probably benign	Het
Strn4	T	C	7: 16,550,533 (GRCm39)	W86R	probably damaging	Het
Tenm4	A	G	7: 96,545,244 (GRCm39)	N2457S	probably damaging	Het
Tent4a	T	A	13: 69,658,824 (GRCm39)	D337V	probably damaging	Het
Timd4	C	A	11: 46,706,309 (GRCm39)	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,496,076 (GRCm39)	N172K	probably damaging	Het
Trrap	T	A	5: 144,773,949 (GRCm39)	V2855D	probably benign	Het
Tubb6	A	T	18: 67,534,598 (GRCm39)	T166S	probably damaging	Het
Tufm	A	G	7: 126,088,034 (GRCm39)	Y179C	probably benign	Het
Tut7	T	C	13: 59,933,597 (GRCm39)	N1302D	probably benign	Het
Ube2r2	C	T	4: 41,190,715 (GRCm39)	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,217,946 (GRCm39)	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,195,692 (GRCm39)	F485L	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
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-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'- GTTTCAAGCCACAGTGGAGGAG -3'
(R):5'- ATCAAGGTTCCTGCTCTGCC -3'

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

Posted On

2021-03-08