Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Pcdhb20'

92568

Institutional Source

Australian Phenomics Network (link to record)

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: 0.074) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

37504264-37507822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37504807 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 129 (H129Y)

Ref Sequence

ENSEMBL: ENSMUSP00000137038 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052179
AA Change: H129Y

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: H129Y

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

Coding Region Coverage

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 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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	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
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
IGL02991:Pcdhb20	UTSW	18	37506211	missense	probably damaging	1.00
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
R7842:Pcdhb20	UTSW	18	37505059	missense	possibly damaging	0.94
R7925:Pcdhb20	UTSW	18	37505059	missense	possibly damaging	0.94
Z1177:Pcdhb20	UTSW	18	37504588	missense	possibly damaging	0.95

Posted On

2013-12-09