Mutagenetix > Incidental Mutations

Incidental Mutation 'R1913:Cdh16'

214574

Institutional Source

Beutler Lab

Gene Symbol

Cdh16

Ensembl Gene

ENSMUSG00000031881

Gene Name

cadherin 16

Synonyms

KSP-cadherin

MMRRC Submission

039931-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1913 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104601911-104624396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104616468 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 657 (H657R)

Ref Sequence

ENSEMBL: ENSMUSP00000148726 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163783
AA Change: H627R

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881
AA Change: H627R

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: H657R

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000212045

Predicted Effect

probably benign
Transcript: ENSMUST00000212318

Predicted Effect

probably benign
Transcript: ENSMUST00000212324

Predicted Effect

probably benign
Transcript: ENSMUST00000212420

Predicted Effect

probably benign
Transcript: ENSMUST00000212447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212689

Predicted Effect

probably benign
Transcript: ENSMUST00000212748

Predicted Effect

probably benign
Transcript: ENSMUST00000212882
AA Change: H657R

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000213033

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	G	5: 9,266,275	L2R	probably damaging	Het
Abca16	A	T	7: 120,541,240	I1588F	probably benign	Het
Abcc2	A	T	19: 43,807,244	T480S	probably benign	Het
Acnat1	A	G	4: 49,447,498	I361T	probably damaging	Het
Adamts10	A	T	17: 33,549,555	H869L	probably benign	Het
AF366264	T	A	8: 13,837,143	Q316L	probably benign	Het
Agpat5	T	C	8: 18,879,613	C253R	probably benign	Het
Agtrap	T	A	4: 148,083,977	H15L	probably damaging	Het
Ahnak	T	A	19: 9,007,922	V2190E	probably damaging	Het
Alx4	A	G	2: 93,675,387	E278G	probably damaging	Het
Amz2	T	C	11: 109,428,871	S28P	probably damaging	Het
Atr	T	A	9: 95,866,733	Y444N	probably benign	Het
Brdt	T	C	5: 107,348,613	I197T	probably benign	Het
Ccser1	G	T	6: 62,379,894	S772I	probably damaging	Het
Ceacam5	A	T	7: 17,759,577	K842*	probably null	Het
Cep120	G	A	18: 53,723,286	T353I	probably benign	Het
Chrnb1	T	C	11: 69,793,584	N164S	possibly damaging	Het
Cse1l	T	C	2: 166,922,191	F123L	probably damaging	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Dcx	G	C	X: 143,923,103	L231V	probably damaging	Het
Dnah12	T	C	14: 26,792,264		probably null	Het
Dnah2	A	T	11: 69,464,930	M2227K	probably damaging	Het
Dnajc30	G	A	5: 135,064,332	A28T	probably benign	Het
Dnm1l	T	C	16: 16,329,966	T306A	probably benign	Het
Enpp3	C	A	10: 24,776,771	E763*	probably null	Het
Esyt3	T	C	9: 99,320,311	S516G	probably benign	Het
Exoc3	T	C	13: 74,182,316	Q498R	probably damaging	Het
Fbn2	T	A	18: 58,061,742	N1449I	probably damaging	Het
Fgb	T	C	3: 83,044,980	D194G	probably benign	Het
Fgd3	T	C	13: 49,263,848	D713G	possibly damaging	Het
Foxb1	T	A	9: 69,760,101	Y49F	possibly damaging	Het
Fpr3	A	G	17: 17,971,408	I314V	probably damaging	Het
Gfod1	A	T	13: 43,303,445	I18N	probably damaging	Het
Gm11492	T	C	11: 87,567,012	S71P	probably benign	Het
Gm5407	T	C	16: 49,296,920		noncoding transcript	Het
Gm7534	A	G	4: 134,192,675		probably null	Het
Gpr89	A	G	3: 96,875,633	F334L	possibly damaging	Het
Gucy2d	G	T	7: 98,443,847	V144F	probably benign	Het
H2-Bl	T	A	17: 36,081,016	K237M	probably damaging	Het
H2-M10.5	C	A	17: 36,774,768	P273H	probably damaging	Het
Hcn2	A	G	10: 79,730,943	M485V	probably benign	Het
Helz2	G	T	2: 181,233,750	S1650R	probably damaging	Het
Ifnar2	T	C	16: 91,404,170	V433A	probably benign	Het
Igsf21	T	A	4: 140,107,312	Y83F	probably benign	Het
Kcnk18	A	G	19: 59,235,058	I212V	possibly damaging	Het
Kcns2	T	C	15: 34,839,709	I406T	probably damaging	Het
Krt42	C	T	11: 100,267,249	V166M	possibly damaging	Het
Lama3	T	C	18: 12,495,279	M1476T	probably benign	Het
Lcor	A	G	19: 41,558,474	R166G	probably benign	Het
Mapt	C	T	11: 104,328,075	P354L	probably damaging	Het
Mep1b	A	T	18: 21,093,229	I383F	probably benign	Het
Mpzl1	C	A	1: 165,601,805	C222F	probably benign	Het
Mug2	T	C	6: 122,070,870	L780P	probably damaging	Het
Naip2	C	T	13: 100,152,157		probably null	Het
Ndufab1	T	C	7: 122,096,691	D41G	probably benign	Het
Ntn1	A	G	11: 68,213,185	C546R	probably damaging	Het
Olfr448	T	A	6: 42,896,753	F101I	probably damaging	Het
Pakap	A	G	4: 57,892,963	E880G	probably damaging	Het
Pde6b	A	G	5: 108,427,190	E639G	probably benign	Het
Phf10	T	C	17: 14,956,809	T83A	probably benign	Het
Phkb	T	A	8: 85,901,920	I186N	possibly damaging	Het
Pkhd1	A	G	1: 20,566,756		probably null	Het
Plxnd1	C	A	6: 115,978,017	A595S	possibly damaging	Het
Ppara	T	A	15: 85,801,099	H416Q	probably damaging	Het
Prodh	T	A	16: 18,081,027	D188V	probably damaging	Het
Psmd14	A	T	2: 61,785,456	K223M	possibly damaging	Het
Ptpn5	A	G	7: 47,078,868	M528T	possibly damaging	Het
Rassf9	G	A	10: 102,544,939	E59K	probably benign	Het
Rnf2	A	T	1: 151,476,185	L140H	probably damaging	Het
Scai	A	G	2: 39,080,081	F557S	probably damaging	Het
Sdk2	A	G	11: 113,856,726	S653P	possibly damaging	Het
Sec24c	A	G	14: 20,689,111	D534G	probably benign	Het
Serinc1	A	G	10: 57,519,465	V375A	probably benign	Het
Serpinb9f	C	T	13: 33,325,846	A7V	probably damaging	Het
Smco1	T	C	16: 32,273,882	S124P	probably damaging	Het
Smim23	C	A	11: 32,824,441	C26F	possibly damaging	Het
Sppl2c	T	A	11: 104,187,889	M505K	probably benign	Het
Sprr1b	C	A	3: 92,437,468	V34F	possibly damaging	Het
Sun1	G	A	5: 139,235,732		probably null	Het
Supt16	A	G	14: 52,178,135	L381P	possibly damaging	Het
Syne2	A	G	12: 75,899,246	D364G	possibly damaging	Het
Tax1bp1	G	T	6: 52,765,952	V775F	probably damaging	Het
Tial1	T	A	7: 128,444,659	I231F	probably damaging	Het
Tiam1	C	A	16: 89,798,694	V1300L	probably damaging	Het
Tmem132e	A	G	11: 82,443,417	T585A	probably damaging	Het
Tnni3k	C	T	3: 154,979,199	A165T	probably benign	Het
Tomm40	A	T	7: 19,710,961	I165N	probably damaging	Het
Tomt	T	C	7: 101,901,247	E104G	probably damaging	Het
Topaz1	T	C	9: 122,767,013	S950P	possibly damaging	Het
Traf3ip2	C	G	10: 39,625,940	P28R	probably benign	Het
Trim24	C	T	6: 37,957,815	P822S	probably damaging	Het
Upf3a	T	G	8: 13,792,108	Y175D	probably damaging	Het
Vars2	G	A	17: 35,666,922	P69S	probably benign	Het
Veph1	T	C	3: 66,244,555	Y151C	probably damaging	Het
Vmn2r11	T	A	5: 109,054,788	D141V	probably benign	Het
Vwa5b1	G	A	4: 138,592,020	Q442*	probably null	Het
Wdr17	T	A	8: 54,687,726	D197V	probably damaging	Het
Wdr70	G	T	15: 7,884,410	T586N	possibly damaging	Het
Wfdc18	G	A	11: 83,709,928	G52R	probably benign	Het
Zc3h6	T	C	2: 129,016,620	I857T	probably damaging	Het
Zfp318	GAAGAA	GAAGAACAAGAA	17: 46,412,524		probably benign	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514		probably benign	Het
Zfp647	C	T	15: 76,911,951	V170I	probably benign	Het
Zfp871	T	C	17: 32,775,917	N76D	possibly damaging	Het
Zwilch	A	G	9: 64,160,952	Y194H	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
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
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'- CCCAATGCAATGCCAAGGTG -3'
(R):5'- AAACAGCTAGCCCTGGGAAG -3'

Sequencing Primer
(F):5'- TGCCACGTACCGTTGAGAG -3'
(R):5'- CCCTGGGAAGGCAAGTG -3'

Posted On

2014-07-14