Mutagenetix > Incidental Mutation

Incidental Mutation 'R7124:Cdh13'

552214

Institutional Source

Beutler Lab

Gene Symbol

Cdh13

Ensembl Gene

ENSMUSG00000031841

Gene Name

cadherin 13

Synonyms

T-cadherin, 4932416G01Rik, Tcad

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118283733-119324921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118968173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 254 (V254A)

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: V254A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: V254A

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (72/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	C	3: 124,414,393	S212R	probably benign	Het
4930562C15Rik	T	C	16: 4,864,332	S170P	probably benign	Het
9330182O14Rik	G	A	15: 40,144,907	C59Y	unknown	Het
AA986860	A	G	1: 130,742,887	E282G	possibly damaging	Het
Adam1a	G	T	5: 121,519,334	T632K	probably benign	Het
Aspg	G	T	12: 112,122,983	A402S	probably damaging	Het
Capn7	C	T	14: 31,336,685		probably benign	Het
Card9	C	T	2: 26,356,884		probably null	Het
Colec10	T	C	15: 54,462,371	V199A	probably damaging	Het
Copb2	T	C	9: 98,577,053	S283P	probably damaging	Het
Csmd1	G	T	8: 15,903,202	S3426R	probably damaging	Het
Cyp4f14	A	G	17: 32,914,588	V98A	probably benign	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dysf	A	G	6: 84,190,901		probably null	Het
Eif4ebp1	T	C	8: 27,273,419	V80A	probably damaging	Het
Eloa	T	A	4: 136,009,141	I565F	probably damaging	Het
Espn	G	T	4: 152,131,264	H513N	probably benign	Het
Fam83c	C	T	2: 155,829,571	S648N	probably benign	Het
Fdxr	C	T	11: 115,269,577	V351M	probably benign	Het
Fras1	A	T	5: 96,714,401	D2213V	probably damaging	Het
Gbp4	T	A	5: 105,119,959	I474F	possibly damaging	Het
Gm11639	T	C	11: 104,738,274	F926S	probably benign	Het
Golgb1	T	C	16: 36,913,673	V1135A	probably benign	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Hipk2	A	T	6: 38,818,478	Y285*	probably null	Het
Ifi27l2b	T	C	12: 103,451,320	I203V	probably damaging	Het
Itga10	T	A	3: 96,651,765	M390K	probably damaging	Het
Itgb8	G	T	12: 119,202,424	S124*	probably null	Het
Klhdc10	T	A	6: 30,441,827	F173I	probably damaging	Het
Kng2	T	G	16: 23,012,055	N168T	probably damaging	Het
Krtap24-1	T	C	16: 88,611,546	T231A	probably damaging	Het
Lbx2	A	T	6: 83,088,064	D194V	probably damaging	Het
Lrrc39	C	A	3: 116,565,913	Q36K	probably benign	Het
Madd	T	C	2: 91,162,048	E1093G	possibly damaging	Het
Mfap3l	A	G	8: 60,671,269	T182A	probably damaging	Het
Myo9b	T	A	8: 71,333,701	Y670*	probably null	Het
Nbea	A	G	3: 55,992,444	L1428P	probably damaging	Het
Nkx2-3	T	C	19: 43,614,806	Y284H	possibly damaging	Het
Nphp4	A	G	4: 152,555,684	D1009G	probably benign	Het
Npy2r	G	A	3: 82,541,183	A95V	probably damaging	Het
Nuggc	A	G	14: 65,608,802	E70G	probably damaging	Het
Olfr1020	T	C	2: 85,849,910	S153P	probably benign	Het
Olfr1028	T	A	2: 85,951,473	S137T	possibly damaging	Het
Palld	A	T	8: 61,516,645	V1215D	unknown	Het
Pard6g	T	C	18: 80,117,125	I151T	possibly damaging	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Parp4	A	G	14: 56,602,799	I554V	probably benign	Het
Pcnx2	G	A	8: 125,753,617	P1984S	probably damaging	Het
Piwil4	T	C	9: 14,736,900	M128V	probably benign	Het
Polr2a	C	A	11: 69,737,462	E1302*	probably null	Het
Psg17	C	A	7: 18,814,496	G450V	probably damaging	Het
Psg17	C	G	7: 18,814,497	G450R	probably damaging	Het
Rag1	T	C	2: 101,643,783	E338G	probably damaging	Het
Rev3l	A	T	10: 39,822,167	K887*	probably null	Het
Rragd	T	C	4: 32,996,027	F124S	possibly damaging	Het
Scube1	A	T	15: 83,629,511		probably null	Het
Sfpq	A	T	4: 127,025,932	D490V	possibly damaging	Het
Smc1b	G	T	15: 85,071,597	Q1034K	probably damaging	Het
Smg7	T	C	1: 152,878,080	N5S	probably benign	Het
Spata31d1a	A	C	13: 59,702,487	L609R	probably damaging	Het
Ssh2	A	G	11: 77,454,338	K1050E	probably benign	Het
Stab1	G	A	14: 31,160,867	T393I	possibly damaging	Het
Sult2a4	C	T	7: 13,988,395	W49*	probably null	Het
Thrap3	A	T	4: 126,180,438	S172T	unknown	Het
Tmem130	A	G	5: 144,750,911	V205A	probably damaging	Het
Ube2d2b	A	G	5: 107,830,851	I123V	probably benign	Het
Unc79	G	T	12: 103,061,393	L414F	probably damaging	Het
Vmn2r30	C	T	7: 7,334,184	S151N	probably benign	Het
Vmn2r54	T	A	7: 12,622,151	T443S	probably benign	Het
Zfp229	T	A	17: 21,742,616	S51T	probably damaging	Het
Zfp617	T	C	8: 71,932,540	L238P	probably damaging	Het
Zfp707	T	A	15: 75,973,549	C87*	probably null	Het
Zfp853	T	C	5: 143,289,607	K101R	unknown	Het

Other mutations in Cdh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Cdh13	APN	8	119312506	missense	possibly damaging	0.87
IGL00659:Cdh13	APN	8	119312667	missense	probably damaging	1.00
IGL01662:Cdh13	APN	8	118675177	missense	probably damaging	0.99
IGL01719:Cdh13	APN	8	118675188	missense	probably benign	0.01
IGL02148:Cdh13	APN	8	119198958	missense	probably damaging	1.00
IGL02157:Cdh13	APN	8	118505671	missense	possibly damaging	0.68
IGL02188:Cdh13	APN	8	118851761	missense	probably benign	0.08
IGL02490:Cdh13	APN	8	119095323	missense	probably damaging	1.00
IGL02851:Cdh13	APN	8	118675158	missense	probably benign	0.32
IGL02958:Cdh13	APN	8	119312721	missense	possibly damaging	0.90
IGL03085:Cdh13	APN	8	119288724	missense	probably damaging	1.00
IGL03230:Cdh13	APN	8	119242317	missense	probably damaging	1.00
IGL03280:Cdh13	APN	8	119314134	missense	probably damaging	1.00
K3955:Cdh13	UTSW	8	118675104	missense	probably damaging	0.99
P0038:Cdh13	UTSW	8	118675104	missense	probably damaging	0.99
R0398:Cdh13	UTSW	8	119314047	missense	probably damaging	1.00
R2156:Cdh13	UTSW	8	119236964	missense	probably damaging	1.00
R3415:Cdh13	UTSW	8	118675207	missense	probably benign	0.35
R4243:Cdh13	UTSW	8	119242257	missense	probably damaging	1.00
R4839:Cdh13	UTSW	8	118851848	nonsense	probably null
R4851:Cdh13	UTSW	8	118757390	missense	possibly damaging	0.75
R5129:Cdh13	UTSW	8	119095215	missense	probably damaging	1.00
R5453:Cdh13	UTSW	8	119198967	missense	probably damaging	1.00
R5607:Cdh13	UTSW	8	118757474	missense	probably benign
R5608:Cdh13	UTSW	8	118757474	missense	probably benign
R5610:Cdh13	UTSW	8	118851723	missense	possibly damaging	0.95
R6035:Cdh13	UTSW	8	118505698	missense	probably benign	0.03
R6035:Cdh13	UTSW	8	118505698	missense	probably benign	0.03
R6556:Cdh13	UTSW	8	118968187	missense	probably damaging	0.99
R7349:Cdh13	UTSW	8	119242358	missense	probably damaging	0.97
R7418:Cdh13	UTSW	8	119312525	missense	probably damaging	1.00
R7679:Cdh13	UTSW	8	119236919	missense	probably benign	0.29
R7807:Cdh13	UTSW	8	118283855	start codon destroyed	probably null	0.77
R8777:Cdh13	UTSW	8	119236967	critical splice donor site	probably null
R8777-TAIL:Cdh13	UTSW	8	119236967	critical splice donor site	probably null
R9175:Cdh13	UTSW	8	119242229	missense	probably damaging	1.00
R9481:Cdh13	UTSW	8	119236937	missense
X0025:Cdh13	UTSW	8	118505679	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AATGATCGATACAGCCTCCTTTC -3'
(R):5'- TAACATCACCCCTGCCGATG -3'

Sequencing Primer
(F):5'- CCTTGTCTTGATTTTAGAAATGACGG -3'
(R):5'- AGGCACTTTCATAGTTTGCAGTC -3'

Posted On

2019-05-15