Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03366:Pcdhb19'

420082

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb19

Ensembl Gene

ENSMUSG00000043313

Gene Name

protocadherin beta 19

Synonyms

PcdhbS, Pcdhb11

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL03366

Quality Score

Status

Chromosome

Chromosomal Location

37496991-37504128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37498612 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 487 (T487A)

Ref Sequence

ENSEMBL: ENSMUSP00000053326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055949] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]

Predicted Effect

probably benign
Transcript: ENSMUST00000055949

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Cadherin_2	30	112	3.1e-34	PFAM
CA	155	240	7.97e-19	SMART
CA	264	345	6.27e-26	SMART
CA	368	449	2.63e-19	SMART
CA	473	559	7.09e-25	SMART
CA	589	670	2.87e-11	SMART
Pfam:Cadherin_C_2	687	771	7.9e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059571
AA Change: T487A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: T487A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	T	A	7: 141,629,273	S793T	probably benign	Het
Btnl6	T	C	17: 34,508,179	D459G	probably damaging	Het
Cacna1g	C	A	11: 94,457,151	D704Y	probably damaging	Het
Cry2	A	G	2: 92,413,715	I371T	probably damaging	Het
Dock3	A	T	9: 107,005,433	F384I	probably benign	Het
Dpp4	T	C	2: 62,356,957		probably null	Het
Hecw1	G	T	13: 14,377,797	D72E	probably damaging	Het
Htt	T	A	5: 34,907,580	W3046R	probably damaging	Het
Hydin	A	T	8: 110,267,363	N10Y	unknown	Het
Ighv8-8	T	A	12: 115,294,140	T94S	probably benign	Het
Igkv4-58	A	G	6: 69,500,554	S20P	probably damaging	Het
Il4i1	T	C	7: 44,837,495		probably benign	Het
Kif13a	A	T	13: 46,764,623	S403T	probably benign	Het
Klhl40	T	C	9: 121,783,380	L616P	probably damaging	Het
Krt7	T	C	15: 101,427,610	L440P	possibly damaging	Het
Lpin1	A	G	12: 16,544,677	L755P	probably damaging	Het
Magee2	C	A	X: 104,855,528	E506*	probably null	Het
Mast3	G	A	8: 70,781,563	R143*	probably null	Het
Med12	T	A	X: 101,278,089	H459Q	probably benign	Het
Mmp3	T	C	9: 7,450,149	S294P	probably benign	Het
Muc6	T	C	7: 141,648,082	Y714C	probably damaging	Het
Myh2	T	C	11: 67,183,523	L662S	probably damaging	Het
Notch4	G	T	17: 34,572,568	C567F	probably damaging	Het
Nprl3	A	G	11: 32,250,256	I20T	probably damaging	Het
Olfr1123	A	T	2: 87,418,243	D65V	possibly damaging	Het
Phlpp2	A	G	8: 109,940,835	E1332G	probably benign	Het
Pick1	T	C	15: 79,241,281	S113P	probably damaging	Het
Ptpru	T	C	4: 131,779,867	E1023G	probably damaging	Het
Rspry1	A	C	8: 94,650,334	I382L	probably benign	Het
Sf3b3	A	C	8: 110,839,954	V248G	probably damaging	Het
Smg5	T	A	3: 88,346,452	Y126*	probably null	Het
Spert	A	G	14: 75,583,389	S299P	probably benign	Het
Spin1	T	C	13: 51,127,937	V22A	probably benign	Het
Stab1	C	T	14: 31,150,263	R1189Q	possibly damaging	Het
Sytl5	A	G	X: 9,963,700	D538G	probably damaging	Het
Taar7e	T	A	10: 24,037,915	M101K	probably damaging	Het
Taf4	A	G	2: 179,935,054	V578A	probably damaging	Het
Tmem266	G	T	9: 55,437,233	C383F	probably benign	Het
Trim34a	T	C	7: 104,260,933		probably null	Het
Vmn2r104	T	C	17: 20,029,604	T802A	probably damaging	Het
Vmn2r32	A	C	7: 7,464,030	I833S	probably damaging	Het
Vmn2r85	T	C	10: 130,426,459	D137G	probably benign	Het
Vps13c	C	T	9: 67,946,026	S2467L	probably benign	Het

Other mutations in Pcdhb19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Pcdhb19	APN	18	37497989	missense	probably damaging	1.00
IGL02070:Pcdhb19	APN	18	37498544	missense	probably damaging	1.00
IGL02348:Pcdhb19	APN	18	37498808	missense	probably damaging	1.00
IGL02866:Pcdhb19	APN	18	37499110	missense	possibly damaging	0.91
IGL02869:Pcdhb19	APN	18	37498637	missense	probably damaging	0.98
IGL03118:Pcdhb19	APN	18	37499565	intron	probably benign
IGL03120:Pcdhb19	APN	18	37498156	missense	probably benign	0.09
IGL03135:Pcdhb19	APN	18	37498535	missense	probably benign	0.37
R0147:Pcdhb19	UTSW	18	37497182	missense	probably benign	0.01
R0148:Pcdhb19	UTSW	18	37497182	missense	probably benign	0.01
R0432:Pcdhb19	UTSW	18	37499535	missense	probably benign	0.01
R0609:Pcdhb19	UTSW	18	37497952	missense	probably benign
R1438:Pcdhb19	UTSW	18	37497962	missense	probably damaging	1.00
R2255:Pcdhb19	UTSW	18	37497944	missense	probably benign	0.00
R2265:Pcdhb19	UTSW	18	37497683	missense	probably damaging	0.99
R3500:Pcdhb19	UTSW	18	37497479	nonsense	probably null
R3708:Pcdhb19	UTSW	18	37497389	missense	probably benign	0.04
R4165:Pcdhb19	UTSW	18	37499190	missense	probably benign
R4166:Pcdhb19	UTSW	18	37499190	missense	probably benign
R4863:Pcdhb19	UTSW	18	37499108	missense	probably benign	0.00
R5217:Pcdhb19	UTSW	18	37497886	missense	probably benign	0.00
R5770:Pcdhb19	UTSW	18	37498037	missense	possibly damaging	0.73
R6031:Pcdhb19	UTSW	18	37497723	missense	probably damaging	1.00
R6031:Pcdhb19	UTSW	18	37497723	missense	probably damaging	1.00
R6372:Pcdhb19	UTSW	18	37497366	missense	probably benign	0.04
R6454:Pcdhb19	UTSW	18	37499269	missense	probably benign	0.43
R6985:Pcdhb19	UTSW	18	37497158	missense	probably benign	0.00
R7658:Pcdhb19	UTSW	18	37498981	missense	probably damaging	0.99
R7662:Pcdhb19	UTSW	18	37498735	missense	probably damaging	0.98
R7910:Pcdhb19	UTSW	18	37497667	missense	probably benign	0.43
R8041:Pcdhb19	UTSW	18	37497314	missense	possibly damaging	0.87
R8318:Pcdhb19	UTSW	18	37497946	missense	possibly damaging	0.86
X0062:Pcdhb19	UTSW	18	37497175	missense	probably benign
Z1177:Pcdhb19	UTSW	18	37498445	missense	probably damaging	1.00

Posted On

2016-08-02