Mutagenetix > Incidental Mutations

Incidental Mutation 'R4878:Cdh16'

375066

Institutional Source

Beutler Lab

Gene Symbol

Cdh16

Ensembl Gene

ENSMUSG00000031881

Gene Name

cadherin 16

Synonyms

KSP-cadherin

MMRRC Submission

042487-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104601911-104624396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104618064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 478 (D478E)

Ref Sequence

ENSEMBL: ENSMUSP00000148726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163783] [ENSMUST00000211849] [ENSMUST00000211903] [ENSMUST00000212045] [ENSMUST00000212324] [ENSMUST00000212420] [ENSMUST00000212447] [ENSMUST00000212662] [ENSMUST00000212748] [ENSMUST00000212882] [ENSMUST00000213033]

AlphaFold

O88338

Predicted Effect

probably damaging
Transcript: ENSMUST00000163783
AA Change: D448E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881
AA Change: D448E

Domain	Start	End	E-Value	Type
CA	47	126	2.42e-9	SMART
CA	150	243	3.93e-9	SMART
CA	260	336	5.52e-13	SMART
CA	360	449	1.33e-15	SMART
CA	474	563	3.35e-1	SMART
CA	585	663	7.88e-1	SMART
transmembrane domain	788	810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211849

Predicted Effect

probably benign
Transcript: ENSMUST00000211889

Predicted Effect

probably damaging
Transcript: ENSMUST00000211903
AA Change: D478E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212045

Predicted Effect

probably benign
Transcript: ENSMUST00000212318

Predicted Effect

probably benign
Transcript: ENSMUST00000212324

Predicted Effect

probably damaging
Transcript: ENSMUST00000212420
AA Change: D19E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212447

Predicted Effect

probably benign
Transcript: ENSMUST00000212662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212689

Predicted Effect

probably benign
Transcript: ENSMUST00000212748

Predicted Effect

probably damaging
Transcript: ENSMUST00000212882
AA Change: D478E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213033

Meta Mutation Damage Score

0.7677

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Efemp2	A	T	19: 5,480,761		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891		probably benign	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Pde1a	A	T	2: 79,878,139	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rbm48	A	T	5: 3,591,853		probably benign	Het
Rft1	C	T	14: 30,677,804	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	Het

Other mutations in Cdh16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Cdh16	APN	8	104623413	missense	probably benign	0.00
IGL01406:Cdh16	APN	8	104618412	missense	possibly damaging	0.93
IGL01477:Cdh16	APN	8	104618508	missense	probably damaging	0.97
IGL01478:Cdh16	APN	8	104614488	splice site	probably benign
IGL01783:Cdh16	APN	8	104617856	missense	probably damaging	1.00
IGL01951:Cdh16	APN	8	104617691	missense	probably damaging	0.99
IGL02390:Cdh16	APN	8	104621974	missense	probably damaging	1.00
IGL02646:Cdh16	APN	8	104622105	critical splice acceptor site	probably null
IGL02938:Cdh16	APN	8	104616929	intron	probably benign
IGL02961:Cdh16	APN	8	104615205	missense	probably damaging	1.00
IGL03378:Cdh16	APN	8	104619285	missense	probably benign	0.09
PIT1430001:Cdh16	UTSW	8	104617639	missense	probably benign	0.05
R0016:Cdh16	UTSW	8	104617632	missense	probably benign	0.22
R1233:Cdh16	UTSW	8	104618482	missense	possibly damaging	0.89
R1470:Cdh16	UTSW	8	104618371	missense	probably benign	0.04
R1470:Cdh16	UTSW	8	104618371	missense	probably benign	0.04
R1490:Cdh16	UTSW	8	104622070	missense	probably damaging	1.00
R1752:Cdh16	UTSW	8	104619873	critical splice donor site	probably null
R1892:Cdh16	UTSW	8	104617999	missense	possibly damaging	0.69
R1913:Cdh16	UTSW	8	104616468	missense	probably benign	0.11
R1933:Cdh16	UTSW	8	104617963	missense	possibly damaging	0.71
R1934:Cdh16	UTSW	8	104617963	missense	possibly damaging	0.71
R2029:Cdh16	UTSW	8	104617802	missense	probably damaging	1.00
R2057:Cdh16	UTSW	8	104621965	nonsense	probably null
R2337:Cdh16	UTSW	8	104622270	missense	probably benign	0.09
R3848:Cdh16	UTSW	8	104617841	missense	possibly damaging	0.64
R3850:Cdh16	UTSW	8	104617841	missense	possibly damaging	0.64
R3892:Cdh16	UTSW	8	104616327	missense	probably damaging	1.00
R4167:Cdh16	UTSW	8	104617730	missense	probably benign	0.02
R4577:Cdh16	UTSW	8	104618559	missense	probably damaging	1.00
R4657:Cdh16	UTSW	8	104615226	splice site	probably null
R4726:Cdh16	UTSW	8	104616032	missense	probably damaging	0.97
R4843:Cdh16	UTSW	8	104621540	missense	probably damaging	1.00
R5013:Cdh16	UTSW	8	104617028	missense	probably damaging	1.00
R5642:Cdh16	UTSW	8	104618045	missense	probably damaging	0.98
R6134:Cdh16	UTSW	8	104616065	missense	probably benign	0.15
R6311:Cdh16	UTSW	8	104614433	missense	probably benign	0.40
R6352:Cdh16	UTSW	8	104616992	missense	probably damaging	0.99
R6382:Cdh16	UTSW	8	104621543	missense	possibly damaging	0.78
R6713:Cdh16	UTSW	8	104619985	nonsense	probably null
R6732:Cdh16	UTSW	8	104618533	missense	probably benign	0.28
R6755:Cdh16	UTSW	8	104619248	missense	probably damaging	1.00
R6913:Cdh16	UTSW	8	104622264	missense	probably benign	0.00
R7037:Cdh16	UTSW	8	104617635	nonsense	probably null
R7202:Cdh16	UTSW	8	104614148	missense	unknown
R7413:Cdh16	UTSW	8	104619940	missense	probably benign	0.00
R7460:Cdh16	UTSW	8	104622291	missense	possibly damaging	0.88
R8017:Cdh16	UTSW	8	104616267	missense	probably damaging	1.00
R8187:Cdh16	UTSW	8	104618238	missense	probably damaging	1.00
R8261:Cdh16	UTSW	8	104615179	nonsense	probably null
R8278:Cdh16	UTSW	8	104618475	missense	probably benign	0.39
R8421:Cdh16	UTSW	8	104621970	missense	probably benign	0.00
R8491:Cdh16	UTSW	8	104617049	missense	probably damaging	1.00
R8725:Cdh16	UTSW	8	104618242	missense	probably benign	0.00
R8810:Cdh16	UTSW	8	104614504	missense	probably damaging	0.97
R9246:Cdh16	UTSW	8	104617970	missense	probably benign
R9267:Cdh16	UTSW	8	104615202	missense	probably damaging	1.00
RF005:Cdh16	UTSW	8	104617052	missense	probably damaging	1.00
RF024:Cdh16	UTSW	8	104617052	missense	probably damaging	1.00
X0067:Cdh16	UTSW	8	104620017	missense	probably damaging	1.00
Z1176:Cdh16	UTSW	8	104615185	missense	probably damaging	1.00
Z1177:Cdh16	UTSW	8	104623440	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAACCAGTGAGTTCGGGGTC -3'
(R):5'- ATGTGAGGTGACAGTCATGG -3'

Sequencing Primer
(F):5'- GGTCACTGTGTGGGTCAC -3'
(R):5'- GACAGACGTCAACAACCATG -3'

Posted On

2016-03-17