Mutagenetix > Incidental Mutations

Incidental Mutation 'R5642:Cdh16'

440755

Institutional Source

Beutler Lab

Gene Symbol

Cdh16

Ensembl Gene

ENSMUSG00000031881

Gene Name

cadherin 16

Synonyms

KSP-cadherin

MMRRC Submission

043290-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104601911-104624396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104618045 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 485 (F485L)

Ref Sequence

ENSEMBL: ENSMUSP00000148478 (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: F455L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881
AA Change: F455L

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: F485L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

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: F26L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

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: F485L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000213033

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,831	L388P	possibly damaging	Het
4930432K21Rik	C	T	8: 84,167,485	T427I	probably damaging	Het
4932415D10Rik	T	A	10: 82,284,483	Q4231L	probably damaging	Het
Abcc1	A	G	16: 14,443,455	E699G	probably damaging	Het
Ap4e1	T	A	2: 127,064,979	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,581,497	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,283,742	K53N	probably damaging	Het
Bag3	C	T	7: 128,546,106	R482W	probably damaging	Het
Cacna1i	A	G	15: 80,395,078	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,901,342	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,589,923	I100F	possibly damaging	Het
Cdhr5	T	A	7: 141,269,197	K817*	probably null	Het
Cfap46	G	T	7: 139,678,577	P260Q	probably damaging	Het
Clec11a	C	T	7: 44,306,408	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,916,765	N51K	probably damaging	Het
Col3a1	T	A	1: 45,331,712		probably benign	Het
Cxcr1	G	A	1: 74,191,828	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,816,319		probably null	Het
Dalrd3	C	T	9: 108,572,290	T474M	probably damaging	Het
Ddit4	C	T	10: 59,951,505	S3N	probably benign	Het
Ddx41	T	C	13: 55,535,895	K108E	possibly damaging	Het
Ece2	A	T	16: 20,643,727	H732L	probably benign	Het
Etv3	T	G	3: 87,536,015	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,462,136	S1070P	probably damaging	Het
Fam160a2	A	T	7: 105,389,882	I50N	probably damaging	Het
Gm11567	T	A	11: 99,879,611	I125N	unknown	Het
Grm3	A	G	5: 9,570,536	L236P	probably benign	Het
Hip1	T	A	5: 135,433,085	R97*	probably null	Het
Hoxa5	T	C	6: 52,204,217	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,329,034	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,782,436	C362S	probably benign	Het
Kif1c	A	G	11: 70,708,447	K391E	probably benign	Het
Klf9	T	C	19: 23,141,882	V43A	probably benign	Het
Krt28	T	A	11: 99,374,494	I116F	probably damaging	Het
Lct	A	T	1: 128,295,232	D1439E	probably damaging	Het
Liph	G	A	16: 21,965,995	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,557,221	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,865,179	Q178R	probably benign	Het
Map1a	T	A	2: 121,306,043	S2209T	probably damaging	Het
Map3k21	C	T	8: 125,938,824	T584I	probably benign	Het
Map3k6	T	C	4: 133,245,544	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 24,903,311	V699E	possibly damaging	Het
Marc1	A	C	1: 184,810,919	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,455,025	S53P	probably benign	Het
Nt5e	T	C	9: 88,327,687	M1T	probably null	Het
Nudt22	T	C	19: 6,995,528	H64R	probably damaging	Het
Olfr1048	T	C	2: 86,235,932	N294S	probably damaging	Het
Olfr108	A	T	17: 37,445,772	T84S	probably damaging	Het
Olfr198	A	G	16: 59,202,006	L140P	probably damaging	Het
Olfr314	A	T	11: 58,786,828	Y198F	probably damaging	Het
Olfr322	T	C	11: 58,666,399	I280T	possibly damaging	Het
Olfr690	A	T	7: 105,329,565	V209D	probably damaging	Het
Otogl	T	C	10: 107,886,552	I314V	probably benign	Het
Pan2	G	T	10: 128,308,100	E106D	probably benign	Het
Papss1	T	A	3: 131,631,804	Y554*	probably null	Het
Pcnx	T	C	12: 81,895,029	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,106,855	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,879,202	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 101,043,362	M878I	probably damaging	Het
Ranbp3	G	A	17: 56,710,703	G453E	probably benign	Het
Rapgef2	T	C	3: 79,094,850	D261G	probably damaging	Het
Reep2	A	G	18: 34,846,218	S199G	probably benign	Het
Rnpep	G	A	1: 135,277,521	T202I	probably damaging	Het
Sass6	T	A	3: 116,607,496		probably null	Het
Sema3e	A	G	5: 14,162,243	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,711,972	E60G	probably damaging	Het
Sptlc3	T	C	2: 139,546,408	Y107H	probably damaging	Het
Stx6	T	C	1: 155,198,179	I245T	probably benign	Het
Syne2	T	C	12: 75,918,532	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,158,791	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,296,787	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,150,877	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,511,300	A166E	probably damaging	Het
Tex14	A	G	11: 87,514,220	R653G	probably benign	Het
Them6	A	T	15: 74,721,805	R171W	probably null	Het
Tln2	T	C	9: 67,296,358	T489A	probably benign	Het
Tmem87a	A	G	2: 120,403,946	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515	C469*	probably null	Het
Tpr	T	C	1: 150,423,818	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,662	M528V	probably benign	Het
Trpm6	T	A	19: 18,830,207	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,775,336	S5C	probably damaging	Het
Ttn	T	C	2: 76,787,068	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,430,464	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,592,036	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,957,380	H253Y	probably benign	Het
Vps13d	A	T	4: 145,170,302	D343E	possibly damaging	Het
Vwf	A	G	6: 125,603,418	E543G		Het
Wdr92	A	G	11: 17,227,263	N207S	possibly damaging	Het
Zfat	A	T	15: 68,180,916	V343E	probably damaging	Het
Zfp316	T	C	5: 143,264,091	E139G	unknown	Het
Zfp943	T	A	17: 21,992,832	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748	K677E	probably benign	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
R4878:Cdh16	UTSW	8	104618064	missense	probably damaging	1.00
R5013:Cdh16	UTSW	8	104617028	missense	probably damaging	1.00
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
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'- ACATGTGAGGTGACAGTCATG -3'

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

Posted On

2016-11-08