Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Cdh9'

399987

Institutional Source

Beutler Lab

Gene Symbol

Cdh9

Ensembl Gene

ENSMUSG00000025370

Gene Name

cadherin 9

Synonyms

T1-cadherin

MMRRC Submission

042860-MU

Accession Numbers

Essential gene?

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

Stock #

R5268 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16728842-16857180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 16851099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 623 (V623I)

Ref Sequence

ENSEMBL: ENSMUSP00000154022 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026432
AA Change: V623I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: V623I

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

probably benign
Transcript: ENSMUST00000228307
AA Change: V623I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,444 (GRCm39)	E299G	probably damaging	Het
Adamtsl4	C	A	3: 95,587,473 (GRCm39)	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,761,890 (GRCm39)	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,931,878 (GRCm39)	T333A	possibly damaging	Het
Aspm	G	T	1: 139,392,033 (GRCm39)	G795C	probably damaging	Het
Car4	C	A	11: 84,856,626 (GRCm39)	Q305K	probably benign	Het
Catsperg1	T	C	7: 28,894,672 (GRCm39)	N612S	probably benign	Het
Cdc5l	G	A	17: 45,726,511 (GRCm39)	R354W	probably damaging	Het
Cfap65	A	G	1: 74,964,061 (GRCm39)	V629A	probably benign	Het
Chd1	G	A	17: 15,956,005 (GRCm39)	V535I	probably damaging	Het
Col12a1	A	G	9: 79,585,329 (GRCm39)	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,712,965 (GRCm39)	D1721E	unknown	Het
Cop1	T	A	1: 159,154,734 (GRCm39)	F647L	probably damaging	Het
Corin	A	C	5: 72,500,362 (GRCm39)	S421A	probably damaging	Het
Crb2	T	C	2: 37,680,833 (GRCm39)	V587A	probably damaging	Het
Ctc1	T	A	11: 68,920,636 (GRCm39)	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,643 (GRCm39)	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,566,656 (GRCm39)	K336M	possibly damaging	Het
Ddx39a	G	A	8: 84,448,950 (GRCm39)	R275H	probably benign	Het
Dennd2b	A	G	7: 109,156,519 (GRCm39)	L77P	probably benign	Het
Des	A	G	1: 75,339,572 (GRCm39)	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,425,764 (GRCm39)	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,633,224 (GRCm39)	E149G	probably benign	Het
Dpep1	A	T	8: 123,920,828 (GRCm39)	I3F	probably benign	Het
Eml6	T	A	11: 29,753,108 (GRCm39)	R934S	probably benign	Het
Ercc6l2	T	C	13: 64,016,925 (GRCm39)	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem2	T	A	3: 53,560,575 (GRCm39)	I1311F	probably damaging	Het
Gldc	T	A	19: 30,123,125 (GRCm39)	M257L	probably damaging	Het
Gm8674	T	G	13: 50,055,390 (GRCm39)		noncoding transcript	Het
Gnai3	C	T	3: 108,030,857 (GRCm39)		probably null	Het
Gtf3a	A	G	5: 146,891,965 (GRCm39)	D300G	probably damaging	Het
Haus3	A	T	5: 34,323,449 (GRCm39)	V387D	probably damaging	Het
Hpf1	T	A	8: 61,346,768 (GRCm39)	F28I	possibly damaging	Het
Iars1	A	G	13: 49,843,967 (GRCm39)	D147G	probably damaging	Het
Ibtk	A	T	9: 85,625,743 (GRCm39)	D2E	probably benign	Het
Ift140	T	A	17: 25,239,601 (GRCm39)	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 21,898,241 (GRCm39)	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,286,252 (GRCm39)	A30E	probably benign	Het
Kcnq5	T	A	1: 21,575,949 (GRCm39)	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,110,787 (GRCm39)	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,454,702 (GRCm39)	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,162,106 (GRCm39)	I863F	possibly damaging	Het
Muc4	T	A	16: 32,570,484 (GRCm39)	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,892,864 (GRCm39)		probably null	Het
Neu4	G	A	1: 93,952,669 (GRCm39)	R346H	probably benign	Het
Nxpe5	T	A	5: 138,238,200 (GRCm39)	Y253*	probably null	Het
Olfml2b	A	T	1: 170,477,330 (GRCm39)	E155V	probably damaging	Het
Or14a258	A	G	7: 86,034,867 (GRCm39)	*334Q	probably null	Het
Or6a2	T	A	7: 106,600,111 (GRCm39)	N319Y	probably benign	Het
Or8a1b	T	A	9: 37,623,300 (GRCm39)	I92F	probably damaging	Het
Pamr1	G	A	2: 102,417,029 (GRCm39)	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,263 (GRCm39)	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,634,271 (GRCm39)	L5F	probably damaging	Het
Plce1	T	A	19: 38,747,279 (GRCm39)	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,617,776 (GRCm39)	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rcn3	A	T	7: 44,736,203 (GRCm39)	D168E	probably damaging	Het
Rdh1	T	G	10: 127,595,832 (GRCm39)	V9G	possibly damaging	Het
Rin2	A	G	2: 145,686,680 (GRCm39)	T70A	probably benign	Het
Rnf207	T	C	4: 152,398,346 (GRCm39)	D276G	probably damaging	Het
Rtel1	C	T	2: 180,982,354 (GRCm39)	S368L	probably benign	Het
Slc15a5	C	A	6: 138,056,751 (GRCm39)	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,638,212 (GRCm39)	F213L	possibly damaging	Het
Snhg16	G	T	11: 116,562,582 (GRCm39)	M18I	probably benign	Het
Spata25	C	T	2: 164,669,954 (GRCm39)	G19D	probably damaging	Het
Tas2r102	A	T	6: 132,739,360 (GRCm39)	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,481,910 (GRCm39)	K704E	probably damaging	Het
Tert	T	G	13: 73,775,473 (GRCm39)	S75A	probably damaging	Het
Tiparp	T	A	3: 65,454,986 (GRCm39)	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,837,380 (GRCm39)	Y57*	probably null	Het
Tomm22	A	G	15: 79,555,428 (GRCm39)	R5G	probably benign	Het
Trav10	A	T	14: 53,743,515 (GRCm39)	S39C	probably benign	Het
Trav6-2	T	A	14: 52,905,205 (GRCm39)	N75K	probably benign	Het
Trio	T	C	15: 27,748,372 (GRCm39)	S2427G	probably benign	Het
Ttc41	C	A	10: 86,580,342 (GRCm39)	H763N	possibly damaging	Het
Usp29	A	T	7: 6,964,583 (GRCm39)	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,740,912 (GRCm39)	W181L	probably damaging	Het
Vmn2r76	G	A	7: 85,875,267 (GRCm39)	T570M	probably damaging	Het
Wdr90	A	G	17: 26,069,819 (GRCm39)	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,219,396 (GRCm39)	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299 (GRCm39)	I1422L	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
IGL01110:Cdh9	APN	15	16,856,012 (GRCm39)	missense	possibly damaging	0.63
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
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

Predicted Primers

PCR Primer
(F):5'- TGAACACCTACCTACTGCCG -3'
(R):5'- TGTCCAAGGTCATTAGAACCATAAG -3'

Sequencing Primer
(F):5'- GCCGGTTTTAATCTTCGACAATG -3'
(R):5'- CAGAGGGCATTGGATCCCATTATAC -3'

Posted On

2016-07-06