Mutagenetix > Incidental Mutations

Incidental Mutation 'R1933:Cdh16'

215583

Institutional Source

Beutler Lab

Gene Symbol

Cdh16

Ensembl Gene

ENSMUSG00000031881

Gene Name

cadherin 16

Synonyms

KSP-cadherin

MMRRC Submission

039951-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1933 (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 104617963 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 7 (V7A)

Ref Sequence

ENSEMBL: ENSMUSP00000148701 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163783
AA Change: V482A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881
AA Change: V482A

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 benign
Transcript: ENSMUST00000211903
AA Change: V512A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000212045

Predicted Effect

probably benign
Transcript: ENSMUST00000212318

Predicted Effect

probably benign
Transcript: ENSMUST00000212324

Predicted Effect

probably benign
Transcript: ENSMUST00000212420
AA Change: V53A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

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 benign
Transcript: ENSMUST00000212882
AA Change: V512A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213033
AA Change: V7A

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,754,885	Y396F	probably benign	Het
Adra2a	T	A	19: 54,046,406	F64L	probably damaging	Het
Ankrd45	A	T	1: 161,151,300	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Bsn	A	G	9: 108,116,444	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,972,957	I529K	probably damaging	Het
Ccdc110	A	G	8: 45,943,250	N726S	probably damaging	Het
Ccdc78	T	A	17: 25,787,070	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,008	Q516K	probably benign	Het
Cd300c2	A	T	11: 115,000,859	V63E	probably benign	Het
Clec16a	T	C	16: 10,688,539	F710L	probably damaging	Het
Clpb	T	G	7: 101,779,211	F393V	probably damaging	Het
Commd9	G	A	2: 101,901,031	R187H	probably damaging	Het
Crx	T	A	7: 15,868,376	K126*	probably null	Het
Dcaf13	T	A	15: 39,138,088	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,734,495	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,434,387	D456E	probably damaging	Het
Dscam	A	G	16: 96,593,214	S1963P	probably benign	Het
Efl1	C	T	7: 82,763,117	Q905*	probably null	Het
Fam57b	T	A	7: 126,827,672		probably null	Het
Farsa	T	C	8: 84,861,151	F104L	probably benign	Het
Fbxl19	C	A	7: 127,750,929	A231E	probably benign	Het
Fbxw19	A	T	9: 109,481,650	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965		probably benign	Het
Frem3	A	G	8: 80,612,890	N604S	probably benign	Het
Gad1	T	G	2: 70,587,392	C312G	possibly damaging	Het
Garem2	G	T	5: 30,114,862	E441*	probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475	M8K	probably benign	Het
Gpr162	G	A	6: 124,861,447	S80F	probably damaging	Het
Grpr	C	A	X: 163,549,141	V53L	probably benign	Het
Il21	C	T	3: 37,232,486	R27H	probably benign	Het
Il21r	C	T	7: 125,628,981	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,435,866	T6A	possibly damaging	Het
Klra4	T	A	6: 130,065,244	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,244,966		probably null	Het
Lrrtm3	A	G	10: 64,088,513	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,462,647	K490*	probably null	Het
Myh14	C	T	7: 44,615,348	M1671I	probably benign	Het
Nebl	A	T	2: 17,375,292	M757K	probably damaging	Het
Olfr1110	T	A	2: 87,135,844	H159L	probably damaging	Het
Olfr504	A	C	7: 108,565,523	F91V	possibly damaging	Het
Olfr631	G	T	7: 103,929,130	M102I	probably damaging	Het
Pkhd1l1	A	T	15: 44,540,884	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,849,605	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prss53	T	C	7: 127,886,262	*553W	probably null	Het
Psma3	T	A	12: 70,984,694	M43K	probably benign	Het
Rad50	G	T	11: 53,680,061	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,093,859	V237E	probably damaging	Het
Scn10a	T	A	9: 119,609,998	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,930,927	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,876,121	E8G	probably damaging	Het
Sgcg	C	T	14: 61,232,412	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262	V367M	probably damaging	Het
Spata31	T	C	13: 64,920,610	S191P	probably benign	Het
Srbd1	A	G	17: 86,102,893	V537A	probably damaging	Het
Srgap1	G	T	10: 121,925,903	D113E	possibly damaging	Het
Srl	A	G	16: 4,492,350	I505T	probably damaging	Het
St14	G	A	9: 31,106,212	T226I	probably benign	Het
Stard9	T	A	2: 120,698,656	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,056,575	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695	N455K	possibly damaging	Het
Sytl3	T	A	17: 6,733,046	V205E	probably damaging	Het
Tenm4	A	G	7: 96,895,326	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tlr1	T	G	5: 64,925,438	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,545	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,232,720	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,619,659	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,307,420	S42T	probably benign	Het
Vps4a	T	C	8: 107,044,558	V392A	probably benign	Het
Wdfy4	T	C	14: 33,133,344	E771G	probably benign	Het
Whrn	G	A	4: 63,415,639	Q415*	probably null	Het
Wnt5a	C	T	14: 28,511,845	P10L	probably benign	Het
Zfhx2	T	C	14: 55,075,238		probably benign	Het
Zfp451	T	C	1: 33,777,822	K132R	probably damaging	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
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
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
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'- AACTTGAGGGGAGCAACCAC -3'
(R):5'- ATTGGGCCTGTAACTCTTCC -3'

Sequencing Primer
(F):5'- CCACTAGTATAGTCACTGTGGCTG -3'
(R):5'- CTCTTCCTGAGGATGTAAAACCTGG -3'

Posted On

2014-07-14