Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02991:Pcdhb20'

452952

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb20

Ensembl Gene

ENSMUSG00000046191

Gene Name

protocadherin beta 20

Synonyms

PcdhbT, Pcdhb14

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL02991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37504264-37507822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37506211 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 597 (G597C)

Ref Sequence

ENSEMBL: ENSMUSP00000137038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052179] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052179
AA Change: G597C

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

SMART Domains

Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: G597C

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	8.3e-36	PFAM
low complexity region	136	148	N/A	INTRINSIC
CA	155	240	1.41e-19	SMART
CA	264	345	2.91e-21	SMART
CA	368	449	1.12e-22	SMART
CA	473	559	3.41e-27	SMART
CA	589	670	6.34e-13	SMART
Pfam:Cadherin_C_2	686	769	7.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059571

SMART Domains

Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	45	131	4.8e-1	SMART
CA	155	240	6.58e-20	SMART
CA	264	345	1.03e-21	SMART
CA	368	449	4.21e-18	SMART
CA	473	559	3.36e-26	SMART
CA	589	670	6.69e-12	SMART
Pfam:Cadherin_C_2	686	769	1.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Meta Mutation Damage Score

0.7917

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

95% (73/77)

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 protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
Adam23	T	C	1: 63,547,819		probably null	Het
Aptx	C	A	4: 40,686,687	G199C	probably damaging	Het
Asap2	T	C	12: 21,249,293		probably benign	Het
Atp11b	A	G	3: 35,826,991	T566A	probably benign	Het
Bcas3	C	T	11: 85,457,887	Q202*	probably null	Het
Cacna1h	C	A	17: 25,391,312	R740L	possibly damaging	Het
Casp8	T	A	1: 58,827,279	N146K	probably benign	Het
Ccdc63	T	C	5: 122,108,212	M549V	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdh20	T	C	1: 104,934,247	S51P	probably benign	Het
Chd7	T	C	4: 8,828,398	M1113T	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Crb1	ACC	AC	1: 139,237,084		probably null	Het
Crb1	CG	C	1: 139,237,086		probably null	Het
Cxcl11	C	T	5: 92,361,310	R28H	probably damaging	Het
Defb40	C	T	8: 18,975,103	C29Y	probably damaging	Het
Fam105a	T	C	15: 27,658,302	S211G	possibly damaging	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Fen1	A	T	19: 10,200,662	D139E	probably benign	Het
Frem3	A	G	8: 80,668,882	E1846G	probably damaging	Het
Gria2	T	A	3: 80,707,809	K455*	probably null	Het
Hmcn1	A	T	1: 150,738,658	N1332K	possibly damaging	Het
Htr5b	C	T	1: 121,528,027	V55M	probably benign	Het
Ighv6-5	A	T	12: 114,416,695	N86K	probably benign	Het
Il4ra	T	C	7: 125,575,661	V347A	possibly damaging	Het
Itih5	A	G	2: 10,251,351	E876G	probably benign	Het
Itpkb	A	T	1: 180,327,714		probably benign	Het
Lbr	T	C	1: 181,821,552	Y334C	probably damaging	Het
Lrfn2	T	C	17: 49,070,704	L271P	probably damaging	Het
Lss	T	A	10: 76,543,911		probably benign	Het
Map1a	T	C	2: 121,301,610	V731A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mob3b	T	A	4: 35,083,805	Q128L	probably benign	Het
Mog	T	C	17: 37,023,199	M1V	probably null	Het
Mrpl4	A	G	9: 21,008,605	Y284C	probably damaging	Het
Mtus2	T	G	5: 148,313,500	V310G	probably damaging	Het
Mup11	ACAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCA	4: 60,662,276		probably benign	Het
Olfr972	T	A	9: 39,874,066	S264T	probably benign	Het
Olfr979	T	C	9: 40,000,402	Y275C	probably damaging	Het
Orc3	T	G	4: 34,593,083	Q328P	probably damaging	Het
Pdxdc1	A	G	16: 13,857,396	I334T	probably damaging	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Proz	G	A	8: 13,073,490	E254K	probably benign	Het
Psma6	T	C	12: 55,407,572		probably benign	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Ryr2	A	G	13: 11,761,306	V1115A	probably damaging	Het
Sfxn5	G	T	6: 85,289,208	N102K	possibly damaging	Het
Sgo2a	G	T	1: 58,015,355		probably benign	Het
Slc14a2	A	T	18: 78,205,834	M1K	probably null	Het
Spag5	T	A	11: 78,314,251	L621M	probably damaging	Het
Spata31	A	G	13: 64,920,719	Y227C	probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Supt6	T	C	11: 78,225,353	E728G	probably damaging	Het
Sympk	T	A	7: 19,030,577	L69Q	probably damaging	Het
Timd4	T	A	11: 46,842,147		probably benign	Het
Trh	G	A	6: 92,243,738	R48W	probably damaging	Het
Trip12	C	A	1: 84,738,815	D383Y	probably damaging	Het
Tspo2	T	A	17: 48,449,986	I23F	possibly damaging	Het
Tspyl5	A	G	15: 33,686,843	S319P	probably damaging	Het
Ttc25	A	G	11: 100,553,872	S285G	probably benign	Het
Txlnb	A	G	10: 17,841,453	K403E	probably damaging	Het
Vmn2r34	C	A	7: 7,672,721	C556F	probably damaging	Het
Vps13c	C	A	9: 67,913,877	A1223E	probably damaging	Het

Other mutations in Pcdhb20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Pcdhb20	APN	18	37504685	missense	possibly damaging	0.87
IGL01373:Pcdhb20	APN	18	37506568	missense	probably benign	0.10
IGL01556:Pcdhb20	APN	18	37504799	missense	possibly damaging	0.88
IGL01621:Pcdhb20	APN	18	37504807	missense	possibly damaging	0.49
IGL01768:Pcdhb20	APN	18	37506715	missense	possibly damaging	0.80
IGL01859:Pcdhb20	APN	18	37504563	missense	probably damaging	0.98
IGL02492:Pcdhb20	APN	18	37506400	missense	probably benign	0.43
IGL03057:Pcdhb20	APN	18	37504798	missense	possibly damaging	0.74
R0799:Pcdhb20	UTSW	18	37505885	missense	probably damaging	1.00
R1465:Pcdhb20	UTSW	18	37504697	missense	probably damaging	0.99
R1465:Pcdhb20	UTSW	18	37504697	missense	probably damaging	0.99
R2012:Pcdhb20	UTSW	18	37505074	missense	probably damaging	0.99
R2079:Pcdhb20	UTSW	18	37505171	missense	probably benign	0.07
R2350:Pcdhb20	UTSW	18	37504510	missense	probably benign	0.01
R2363:Pcdhb20	UTSW	18	37505672	missense	probably damaging	1.00
R2364:Pcdhb20	UTSW	18	37505938	missense	probably damaging	1.00
R2870:Pcdhb20	UTSW	18	37505780	missense	possibly damaging	0.82
R2870:Pcdhb20	UTSW	18	37505780	missense	possibly damaging	0.82
R4060:Pcdhb20	UTSW	18	37506164	missense	probably damaging	1.00
R4609:Pcdhb20	UTSW	18	37505796	missense	probably benign	0.02
R4750:Pcdhb20	UTSW	18	37506131	missense	possibly damaging	0.48
R4897:Pcdhb20	UTSW	18	37506245	missense	possibly damaging	0.70
R4970:Pcdhb20	UTSW	18	37506771	missense	probably benign	0.00
R5098:Pcdhb20	UTSW	18	37504805	missense	probably damaging	1.00
R5616:Pcdhb20	UTSW	18	37504532	missense	probably damaging	0.97
R5890:Pcdhb20	UTSW	18	37505233	missense	probably benign	0.00
R6225:Pcdhb20	UTSW	18	37504994	missense	probably damaging	1.00
R6248:Pcdhb20	UTSW	18	37506232	missense	probably damaging	0.99
R6419:Pcdhb20	UTSW	18	37505555	missense	probably damaging	1.00
R6814:Pcdhb20	UTSW	18	37506165	missense	probably benign	0.22
R6821:Pcdhb20	UTSW	18	37506122	missense	probably damaging	1.00
R6824:Pcdhb20	UTSW	18	37505699	missense	probably benign	0.06
R6872:Pcdhb20	UTSW	18	37506165	missense	probably benign	0.22
R7040:Pcdhb20	UTSW	18	37504717	missense	probably benign	0.00
R7145:Pcdhb20	UTSW	18	37505089	missense	probably damaging	1.00
R7165:Pcdhb20	UTSW	18	37505070	missense	probably damaging	1.00
R7215:Pcdhb20	UTSW	18	37505386	missense	probably benign	0.24
R7265:Pcdhb20	UTSW	18	37505563	missense	possibly damaging	0.95
R7372:Pcdhb20	UTSW	18	37506787	missense	probably benign	0.00
R7402:Pcdhb20	UTSW	18	37504952	missense	probably benign	0.05
R7718:Pcdhb20	UTSW	18	37505651	missense	probably damaging	1.00
R7794:Pcdhb20	UTSW	18	37504432	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCGAGTTCCAAGTGGGTGC -3'
(R):5'- TACATCTTCTTCTTGTGCAGGG -3'

Sequencing Primer
(F):5'- TTCCAAGTGGGTGCGACAGAC -3'
(R):5'- GCTGAGAGAAGCCATCCAC -3'

Posted On

2017-01-24