Mutagenetix > Incidental Mutation

Incidental Mutation 'R9310:Cdh20'

705432

Institutional Source

Beutler Lab

Gene Symbol

Cdh20

Ensembl Gene

ENSMUSG00000050840

Gene Name

cadherin 20

Synonyms

Cdh7

MMRRC Submission

Accession Numbers

Genbank: NM_011800

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R9310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104768529-104995481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104947336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 281 (M281T)

Ref Sequence

ENSEMBL: ENSMUSP00000052078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062528]

AlphaFold

Q9Z0M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000062528
AA Change: M281T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052078
Gene: ENSMUSG00000050840
AA Change: M281T

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
CA	82	163	1.01e-15	SMART
CA	187	272	1.35e-30	SMART
CA	296	388	1.98e-14	SMART
CA	411	492	1.61e-23	SMART
CA	515	602	3.9e-13	SMART
transmembrane domain	620	642	N/A	INTRINSIC
Pfam:Cadherin_C	645	793	2.6e-49	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 116,972,120 (GRCm38)	I83V	possibly damaging	Het
Abcf1	G	A	17: 35,961,729 (GRCm38)	A288V	probably null	Het
Acer1	A	T	17: 56,955,598 (GRCm38)	V184D	probably damaging	Het
Apoh	T	C	11: 108,407,481 (GRCm38)		probably null	Het
Arid1a	T	C	4: 133,686,314 (GRCm38)	Y959C	unknown	Het
Asb3	A	T	11: 31,028,962 (GRCm38)	H84L	probably benign	Het
Atxn1	A	C	13: 45,568,018 (GRCm38)	Y134D	probably damaging	Het
BC055324	A	G	1: 163,964,520 (GRCm38)	C610R	probably damaging	Het
Btbd1	T	C	7: 81,829,237 (GRCm38)	Y52C	probably damaging	Het
Cabp2	A	G	19: 4,086,464 (GRCm38)	D170G	probably damaging	Het
Cacna1a	C	A	8: 84,536,417 (GRCm38)	A407E	probably damaging	Het
Cacna2d4	T	A	6: 119,271,953 (GRCm38)		probably null	Het
Cc2d2a	T	C	5: 43,695,146 (GRCm38)	F404S	probably damaging	Het
Cfap54	A	T	10: 92,962,315 (GRCm38)	M1694K	unknown	Het
Chd6	G	T	2: 161,039,261 (GRCm38)	T261K	probably damaging	Het
Cnksr1	T	C	4: 134,229,019 (GRCm38)	S585G	probably damaging	Het
Cntnap2	A	T	6: 46,001,347 (GRCm38)	Y312F	probably damaging	Het
Coa7	T	A	4: 108,338,313 (GRCm38)	Y146*	probably null	Het
Col28a1	T	C	6: 8,175,414 (GRCm38)	K145E	unknown	Het
Coq8b	T	A	7: 27,242,061 (GRCm38)	I221N	probably damaging	Het
Cpd	A	T	11: 76,814,781 (GRCm38)	L375*	probably null	Het
Dnah5	T	C	15: 28,448,433 (GRCm38)	F4214S	probably damaging	Het
Dock2	A	G	11: 34,294,139 (GRCm38)	F1067S	possibly damaging	Het
Dpp6	G	A	5: 27,631,441 (GRCm38)	A310T	probably damaging	Het
Dpp6	C	A	5: 27,725,644 (GRCm38)	L825I	probably benign	Het
Efcab5	A	G	11: 77,113,705 (GRCm38)	V929A	probably benign	Het
Ephx3	C	G	17: 32,189,316 (GRCm38)	D45H	probably benign	Het
Espl1	G	A	15: 102,296,850 (GRCm38)		probably null	Het
Gm4847	T	C	1: 166,632,712 (GRCm38)	R402G	probably benign	Het
Grid1	T	C	14: 35,026,805 (GRCm38)	L194S	probably damaging	Het
Heatr1	A	T	13: 12,438,610 (GRCm38)	H2122L	probably benign	Het
Il17b	T	A	18: 61,692,263 (GRCm38)	C123*	probably null	Het
Il17rc	T	C	6: 113,474,249 (GRCm38)	L181P	probably damaging	Het
Inpp5e	T	A	2: 26,397,928 (GRCm38)	I619L	probably benign	Het
Itgax	C	A	7: 128,142,260 (GRCm38)	Y814*	probably null	Het
Marcks	C	T	10: 37,136,491 (GRCm38)	E183K	unknown	Het
Mefv	T	C	16: 3,715,388 (GRCm38)	T340A	probably benign	Het
Mical2	A	G	7: 112,351,713 (GRCm38)	K958R	probably benign	Het
Mkl2	T	A	16: 13,401,090 (GRCm38)	D533E	probably benign	Het
Mtor	T	A	4: 148,469,377 (GRCm38)	L811Q	probably benign	Het
Myh4	A	G	11: 67,254,744 (GRCm38)	Y1351C	probably damaging	Het
Neb	T	C	2: 52,263,696 (GRCm38)	M2406V	probably benign	Het
Nebl	T	C	2: 17,348,867 (GRCm38)	T214A	probably benign	Het
Nlrx1	A	T	9: 44,253,408 (GRCm38)	I913N	probably damaging	Het
Npr2	G	T	4: 43,632,404 (GRCm38)	A74S	probably benign	Het
Olfr1220	T	A	2: 89,097,913 (GRCm38)	S5C	probably damaging	Het
Olfr711	C	A	7: 106,971,471 (GRCm38)	C291F	probably damaging	Het
Olfr794	T	A	10: 129,570,818 (GRCm38)	N54K	probably benign	Het
Pard3b	G	T	1: 62,166,369 (GRCm38)	V441F	probably damaging	Het
Pcsk1	G	A	13: 75,090,072 (GRCm38)	R4K	probably benign	Het
Pisd	G	T	5: 32,737,440 (GRCm38)	N337K	possibly damaging	Het
Pml	T	C	9: 58,249,662 (GRCm38)	K10R	probably benign	Het
Prkci	T	C	3: 31,029,515 (GRCm38)	W132R	probably damaging	Het
Prrc2a	A	T	17: 35,155,999 (GRCm38)	M1225K	probably benign	Het
Prss23	T	C	7: 89,509,934 (GRCm38)	D309G	probably damaging	Het
Pxdn	G	A	12: 30,002,052 (GRCm38)	G743S	probably damaging	Het
Rab29	A	T	1: 131,872,122 (GRCm38)	E145V	probably damaging	Het
Rasef	C	T	4: 73,735,719 (GRCm38)		probably null	Het
Rcbtb1	T	G	14: 59,235,250 (GRCm38)	I496S	probably benign	Het
Rcor1	T	C	12: 111,099,959 (GRCm38)	Y228H		Het
Reep5	C	T	18: 34,357,169 (GRCm38)	V92I	probably damaging	Het
Rfx3	T	C	19: 27,849,929 (GRCm38)	S86G	probably benign	Het
Rptn	T	A	3: 93,397,077 (GRCm38)	D572E	probably benign	Het
Rsl1	A	T	13: 67,176,446 (GRCm38)		probably null	Het
Sbf2	T	C	7: 110,315,085 (GRCm38)	E1630G	possibly damaging	Het
Sele	G	A	1: 164,049,406 (GRCm38)	V84I	probably benign	Het
Serpina1b	T	C	12: 103,732,497 (GRCm38)	D31G	probably benign	Het
Serpina3c	T	C	12: 104,149,554 (GRCm38)	I244V	probably benign	Het
Serpinb6e	A	G	13: 33,833,221 (GRCm38)	V272A	probably benign	Het
Serpinb9b	A	G	13: 33,035,540 (GRCm38)	D150G	probably benign	Het
Sgpp1	T	C	12: 75,722,600 (GRCm38)	T265A	probably benign	Het
Slc9a1	T	A	4: 133,416,370 (GRCm38)	M389K	probably damaging	Het
Slco3a1	A	T	7: 74,554,488 (GRCm38)	C35S	probably damaging	Het
Slco6d1	T	A	1: 98,499,894 (GRCm38)	V650E	possibly damaging	Het
Slit2	T	C	5: 48,192,226 (GRCm38)	V274A	possibly damaging	Het
Snd1	A	G	6: 28,795,937 (GRCm38)	E593G	probably null	Het
Spata2l	C	T	8: 123,234,134 (GRCm38)	V139M	probably benign	Het
Suco	T	C	1: 161,856,858 (GRCm38)	K231R	probably damaging	Het
Tenm3	C	A	8: 48,555,900 (GRCm38)		probably benign	Het
Tg	T	C	15: 66,827,269 (GRCm38)	S2415P	possibly damaging	Het
Traf6	C	A	2: 101,696,727 (GRCm38)	A274D	possibly damaging	Het
Usp14	A	G	18: 9,996,239 (GRCm38)	I447T	possibly damaging	Het
Usp32	G	A	11: 85,051,202 (GRCm38)	L355F	probably benign	Het
Vcpip1	T	C	1: 9,747,702 (GRCm38)	N152S	possibly damaging	Het
Vgf	A	G	5: 137,032,256 (GRCm38)	Q424R	probably benign	Het
Vmn2r84	A	T	10: 130,392,124 (GRCm38)	M81K	possibly damaging	Het
Washc5	G	A	15: 59,346,218 (GRCm38)	A732V	possibly damaging	Het
Wdr63	C	T	3: 146,097,140 (GRCm38)		probably null	Het
Xrcc3	T	G	12: 111,805,051 (GRCm38)	D213A	probably damaging	Het
Zeb2	T	C	2: 44,996,976 (GRCm38)	T690A	probably benign	Het
Zfat	G	A	15: 68,084,401 (GRCm38)	S1212L	probably damaging	Het
Zfp623	C	T	15: 75,948,100 (GRCm38)	L302F	probably damaging	Het
Zfp799	A	C	17: 32,820,759 (GRCm38)	C178G	possibly damaging	Het
Zfy1	T	C	Y: 727,634 (GRCm38)	E348G	unknown	Het
Zhx3	A	G	2: 160,779,473 (GRCm38)	W925R	possibly damaging	Het

Other mutations in Cdh20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Cdh20	APN	1	104,953,887 (GRCm38)	missense	probably benign	0.05
IGL00743:Cdh20	APN	1	104,947,428 (GRCm38)	missense	probably benign	0.06
IGL00848:Cdh20	APN	1	104,934,256 (GRCm38)	missense	probably benign
IGL01393:Cdh20	APN	1	104,934,244 (GRCm38)	missense	probably benign
IGL01396:Cdh20	APN	1	104,947,429 (GRCm38)	missense	possibly damaging	0.59
IGL01485:Cdh20	APN	1	104,934,107 (GRCm38)	missense	probably benign	0.05
IGL01612:Cdh20	APN	1	104,994,170 (GRCm38)	missense	probably benign	0.02
IGL01947:Cdh20	APN	1	104,993,924 (GRCm38)	missense	possibly damaging	0.91
IGL01967:Cdh20	APN	1	104,941,037 (GRCm38)	missense	probably damaging	1.00
IGL02226:Cdh20	APN	1	104,954,091 (GRCm38)	splice site	probably benign
IGL02318:Cdh20	APN	1	104,954,039 (GRCm38)	missense	probably null	0.03
IGL02326:Cdh20	APN	1	104,975,039 (GRCm38)	missense	probably damaging	0.97
IGL02798:Cdh20	APN	1	104,947,465 (GRCm38)	missense	probably damaging	0.97
IGL02963:Cdh20	APN	1	104,934,098 (GRCm38)	start codon destroyed	probably null	0.66
IGL03081:Cdh20	APN	1	104,941,257 (GRCm38)	missense	probably damaging	1.00
3-1:Cdh20	UTSW	1	104,947,420 (GRCm38)	missense	possibly damaging	0.84
BB002:Cdh20	UTSW	1	104,984,748 (GRCm38)	missense	probably damaging	0.99
BB012:Cdh20	UTSW	1	104,984,748 (GRCm38)	missense	probably damaging	0.99
IGL02991:Cdh20	UTSW	1	104,934,247 (GRCm38)	missense	probably benign
R0178:Cdh20	UTSW	1	104,975,051 (GRCm38)	missense	possibly damaging	0.82
R1114:Cdh20	UTSW	1	104,979,014 (GRCm38)	missense	probably damaging	0.96
R1401:Cdh20	UTSW	1	104,947,497 (GRCm38)	missense	possibly damaging	0.65
R1502:Cdh20	UTSW	1	104,954,030 (GRCm38)	missense	probably benign	0.06
R1764:Cdh20	UTSW	1	104,934,345 (GRCm38)	splice site	probably benign
R2198:Cdh20	UTSW	1	104,947,322 (GRCm38)	critical splice acceptor site	probably null
R2279:Cdh20	UTSW	1	104,947,414 (GRCm38)	missense	probably damaging	1.00
R2419:Cdh20	UTSW	1	104,975,015 (GRCm38)	missense	possibly damaging	0.92
R2897:Cdh20	UTSW	1	104,947,474 (GRCm38)	missense	probably damaging	1.00
R4243:Cdh20	UTSW	1	104,942,143 (GRCm38)	missense	probably damaging	1.00
R4244:Cdh20	UTSW	1	104,942,143 (GRCm38)	missense	probably damaging	1.00
R4349:Cdh20	UTSW	1	104,979,089 (GRCm38)	missense	probably damaging	1.00
R4350:Cdh20	UTSW	1	104,979,089 (GRCm38)	missense	probably damaging	1.00
R4352:Cdh20	UTSW	1	104,979,089 (GRCm38)	missense	probably damaging	1.00
R4353:Cdh20	UTSW	1	104,979,089 (GRCm38)	missense	probably damaging	1.00
R4719:Cdh20	UTSW	1	104,934,310 (GRCm38)	missense	probably damaging	0.97
R4754:Cdh20	UTSW	1	104,984,685 (GRCm38)	missense	probably damaging	0.99
R4795:Cdh20	UTSW	1	104,941,264 (GRCm38)	missense	probably damaging	1.00
R4796:Cdh20	UTSW	1	104,941,264 (GRCm38)	missense	probably damaging	1.00
R4955:Cdh20	UTSW	1	104,984,803 (GRCm38)	missense	probably damaging	1.00
R5056:Cdh20	UTSW	1	104,953,997 (GRCm38)	missense	probably benign	0.00
R5127:Cdh20	UTSW	1	104,947,348 (GRCm38)	missense	probably damaging	1.00
R5269:Cdh20	UTSW	1	104,934,157 (GRCm38)	missense	possibly damaging	0.67
R5563:Cdh20	UTSW	1	104,947,357 (GRCm38)	missense	probably benign	0.29
R5634:Cdh20	UTSW	1	104,975,075 (GRCm38)	missense	probably damaging	0.97
R5708:Cdh20	UTSW	1	104,984,910 (GRCm38)	missense	probably damaging	1.00
R5822:Cdh20	UTSW	1	104,934,098 (GRCm38)	start codon destroyed	probably null	0.49
R5933:Cdh20	UTSW	1	104,984,671 (GRCm38)	missense	probably damaging	1.00
R6109:Cdh20	UTSW	1	104,994,014 (GRCm38)	missense	probably damaging	1.00
R6521:Cdh20	UTSW	1	104,942,134 (GRCm38)	missense	probably damaging	1.00
R6911:Cdh20	UTSW	1	104,984,686 (GRCm38)	missense	possibly damaging	0.95
R7169:Cdh20	UTSW	1	104,947,353 (GRCm38)	missense	possibly damaging	0.91
R7207:Cdh20	UTSW	1	104,993,977 (GRCm38)	missense	probably damaging	0.98
R7208:Cdh20	UTSW	1	104,954,071 (GRCm38)	missense	possibly damaging	0.63
R7297:Cdh20	UTSW	1	104,970,873 (GRCm38)	missense	probably benign
R7535:Cdh20	UTSW	1	104,975,043 (GRCm38)	missense	probably damaging	1.00
R7587:Cdh20	UTSW	1	104,941,279 (GRCm38)	missense	probably damaging	1.00
R7748:Cdh20	UTSW	1	104,941,299 (GRCm38)	missense	probably damaging	1.00
R7879:Cdh20	UTSW	1	104,947,322 (GRCm38)	critical splice acceptor site	probably null
R7915:Cdh20	UTSW	1	104,934,173 (GRCm38)	missense	probably benign	0.15
R7925:Cdh20	UTSW	1	104,984,748 (GRCm38)	missense	probably damaging	0.99
R8257:Cdh20	UTSW	1	104,994,237 (GRCm38)	missense	probably benign	0.25
R8444:Cdh20	UTSW	1	104,970,858 (GRCm38)	missense	probably benign	0.16
R8546:Cdh20	UTSW	1	104,934,044 (GRCm38)	start gained	probably benign
R8870:Cdh20	UTSW	1	104,945,323 (GRCm38)	missense	probably damaging	0.99
R9542:Cdh20	UTSW	1	104,947,342 (GRCm38)	missense	probably damaging	1.00
R9602:Cdh20	UTSW	1	104,941,098 (GRCm38)	missense	probably benign	0.07
R9664:Cdh20	UTSW	1	104,934,340 (GRCm38)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GTGCTTCTCACTACTCTGAAGG -3'
(R):5'- CTTCACAGTTATGATGCCAACTTGG -3'

Sequencing Primer
(F):5'- ACCTGCCTTATTCTTTAGGTTCAGAG -3'
(R):5'- ATGCCAACTTGGAAGTTTTGGTC -3'

Posted On

2022-03-25