Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01110:Cdh9'

52812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh9

Ensembl Gene

ENSMUSG00000025370

Gene Name

cadherin 9

Synonyms

T1-cadherin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL01110

Quality Score

Status

Chromosome

Chromosomal Location

16728842-16857180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16856012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 684 (D684G)

Ref Sequence

ENSEMBL: ENSMUSP00000154022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026432] [ENSMUST00000228307]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026432
AA Change: D684G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: D684G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CA	75	156	2.84e-15	SMART
CA	180	265	5.63e-28	SMART
CA	289	381	1.12e-13	SMART
CA	404	485	8.03e-24	SMART
CA	508	595	1.34e-2	SMART
transmembrane domain	613	635	N/A	INTRINSIC
Pfam:Cadherin_C	638	782	1.5e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227900

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228307
AA Change: D684G

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout results in the formation of abnormal axonal arbors in some retinal type 5 bipolar cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs1	G	A	19: 4,942,953 (GRCm39)	S479L	possibly damaging	Het
Capn6	G	T	X: 142,590,246 (GRCm39)	P385H	probably damaging	Het
Cavin1	C	A	11: 100,861,300 (GRCm39)		probably benign	Het
Dlgap5	A	G	14: 47,631,783 (GRCm39)		probably benign	Het
Doc2g	A	G	19: 4,056,577 (GRCm39)	E321G	probably damaging	Het
Eef1akmt1	A	C	14: 57,787,247 (GRCm39)	F210V	probably damaging	Het
Eya1	A	G	1: 14,353,354 (GRCm39)	S65P	probably damaging	Het
Gpx8	C	T	13: 113,182,218 (GRCm39)	V72I	probably benign	Het
Gria1	A	G	11: 57,180,207 (GRCm39)	E650G	probably damaging	Het
Hic1	A	T	11: 75,056,345 (GRCm39)	L848Q	possibly damaging	Het
Mmp1b	C	T	9: 7,384,921 (GRCm39)	D243N	probably benign	Het
Mov10l1	G	T	15: 88,905,460 (GRCm39)	V872L	probably benign	Het
Or8g50	T	C	9: 39,648,693 (GRCm39)	V194A	probably benign	Het
Or8h9	C	T	2: 86,789,265 (GRCm39)	C179Y	possibly damaging	Het
Otof	A	G	5: 30,619,069 (GRCm39)	F25S	probably damaging	Het
Patj	A	C	4: 98,301,261 (GRCm39)	N182T	probably damaging	Het
Pik3r6	G	A	11: 68,419,652 (GRCm39)		probably null	Het
Ppil6	G	A	10: 41,374,406 (GRCm39)	V96I	probably benign	Het
Sardh	T	A	2: 27,105,125 (GRCm39)	Q666L	probably benign	Het
Tasp1	A	G	2: 139,819,538 (GRCm39)	S222P	probably damaging	Het
Tln2	G	T	9: 67,157,864 (GRCm39)	C1158*	probably null	Het
Zfp707	T	A	15: 75,847,044 (GRCm39)	C292S	probably damaging	Het
Zfp956	A	G	6: 47,940,346 (GRCm39)	E235G	probably benign	Het

Other mutations in Cdh9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Cdh9	APN	15	16,828,448 (GRCm39)	missense	probably damaging	1.00
IGL00555:Cdh9	APN	15	16,823,492 (GRCm39)	missense	probably damaging	1.00
IGL01432:Cdh9	APN	15	16,831,033 (GRCm39)	missense	probably damaging	1.00
IGL01768:Cdh9	APN	15	16,778,311 (GRCm39)	missense	possibly damaging	0.51
IGL02043:Cdh9	APN	15	16,856,318 (GRCm39)	missense	probably damaging	1.00
IGL02304:Cdh9	APN	15	16,848,687 (GRCm39)	missense	probably benign	0.01
IGL02380:Cdh9	APN	15	16,856,086 (GRCm39)	missense	possibly damaging	0.79
IGL02505:Cdh9	APN	15	16,856,075 (GRCm39)	missense	probably damaging	1.00
IGL02675:Cdh9	APN	15	16,849,162 (GRCm39)	splice site	probably null
IGL02679:Cdh9	APN	15	16,832,316 (GRCm39)	missense	probably damaging	0.97
IGL03288:Cdh9	APN	15	16,856,135 (GRCm39)	missense	probably damaging	1.00
R0426:Cdh9	UTSW	15	16,823,540 (GRCm39)	critical splice donor site	probably null
R0726:Cdh9	UTSW	15	16,831,130 (GRCm39)	missense	probably benign	0.00
R1335:Cdh9	UTSW	15	16,850,878 (GRCm39)	missense	probably benign	0.00
R1368:Cdh9	UTSW	15	16,848,568 (GRCm39)	splice site	probably benign
R1766:Cdh9	UTSW	15	16,778,392 (GRCm39)	missense	probably damaging	1.00
R1916:Cdh9	UTSW	15	16,823,361 (GRCm39)	missense	probably benign	0.03
R2325:Cdh9	UTSW	15	16,778,286 (GRCm39)	missense	probably benign
R2424:Cdh9	UTSW	15	16,850,440 (GRCm39)	missense	probably damaging	1.00
R3104:Cdh9	UTSW	15	16,855,900 (GRCm39)	missense	probably damaging	1.00
R3837:Cdh9	UTSW	15	16,823,524 (GRCm39)	nonsense	probably null
R3839:Cdh9	UTSW	15	16,823,524 (GRCm39)	nonsense	probably null
R4241:Cdh9	UTSW	15	16,849,165 (GRCm39)	critical splice acceptor site	probably null
R4248:Cdh9	UTSW	15	16,850,474 (GRCm39)	missense	probably benign	0.00
R4576:Cdh9	UTSW	15	16,832,325 (GRCm39)	missense	possibly damaging	0.73
R4679:Cdh9	UTSW	15	16,851,045 (GRCm39)	missense	probably benign
R4896:Cdh9	UTSW	15	16,778,242 (GRCm39)	missense	probably benign	0.12
R4961:Cdh9	UTSW	15	16,850,914 (GRCm39)	missense	probably benign
R5050:Cdh9	UTSW	15	16,778,233 (GRCm39)	missense	probably benign	0.12
R5089:Cdh9	UTSW	15	16,778,362 (GRCm39)	missense	probably damaging	1.00
R5268:Cdh9	UTSW	15	16,851,099 (GRCm39)	missense	probably benign
R5567:Cdh9	UTSW	15	16,855,930 (GRCm39)	missense	probably damaging	1.00
R5646:Cdh9	UTSW	15	16,823,371 (GRCm39)	missense	probably damaging	1.00
R5894:Cdh9	UTSW	15	16,832,186 (GRCm39)	missense	possibly damaging	0.47
R6440:Cdh9	UTSW	15	16,823,509 (GRCm39)	missense	probably benign	0.01
R6441:Cdh9	UTSW	15	16,823,509 (GRCm39)	missense	probably benign	0.01
R7225:Cdh9	UTSW	15	16,856,159 (GRCm39)	missense	probably damaging	1.00
R7247:Cdh9	UTSW	15	16,778,341 (GRCm39)	missense	probably damaging	1.00
R7593:Cdh9	UTSW	15	16,823,261 (GRCm39)	missense	probably damaging	1.00
R7615:Cdh9	UTSW	15	16,856,316 (GRCm39)	missense	probably damaging	1.00
R7632:Cdh9	UTSW	15	16,851,115 (GRCm39)	splice site	probably null
R7991:Cdh9	UTSW	15	16,828,489 (GRCm39)	missense	probably damaging	1.00
R8035:Cdh9	UTSW	15	16,831,152 (GRCm39)	missense	probably damaging	0.97
R8834:Cdh9	UTSW	15	16,850,964 (GRCm39)	missense	probably damaging	1.00
R8909:Cdh9	UTSW	15	16,848,610 (GRCm39)	missense	probably damaging	1.00
R8936:Cdh9	UTSW	15	16,831,162 (GRCm39)	critical splice donor site	probably null
R8973:Cdh9	UTSW	15	16,831,131 (GRCm39)	missense	possibly damaging	0.78
R9138:Cdh9	UTSW	15	16,823,273 (GRCm39)	missense	probably damaging	1.00
R9305:Cdh9	UTSW	15	16,832,138 (GRCm39)	missense	probably damaging	1.00
RF006:Cdh9	UTSW	15	16,855,916 (GRCm39)	missense	probably damaging	0.97
X0062:Cdh9	UTSW	15	16,848,625 (GRCm39)	missense	possibly damaging	0.81
Z1177:Cdh9	UTSW	15	16,850,450 (GRCm39)	missense	probably benign	0.16

Posted On

2013-06-21