Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02869:Pcdhb19'

362424

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: 0.061) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

37496991-37504128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37498637 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 495 (D495G)

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

probably damaging
Transcript: ENSMUST00000059571
AA Change: D495G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: D495G

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,867,459	S1142T	possibly damaging	Het
5330417C22Rik	A	G	3: 108,472,866	I309T	probably benign	Het
Actr3b	T	G	5: 25,832,435	V215G	probably damaging	Het
Adam9	C	T	8: 24,970,618	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,890,605	P32T	probably damaging	Het
Ago3	A	T	4: 126,367,787		probably benign	Het
Allc	A	C	12: 28,573,207	I20M	probably benign	Het
Asic3	G	A	5: 24,416,974	W361*	probably null	Het
Atf7ip	A	G	6: 136,606,579	K1203E	probably damaging	Het
Babam2	C	A	5: 32,004,772	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,977,528	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,890,393	Y146*	probably null	Het
C530008M17Rik	A	G	5: 76,859,043	K1084E	unknown	Het
Cd247	A	G	1: 165,857,417	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,476,541	D76G	probably benign	Het
Cela3a	T	C	4: 137,403,834	K198E	probably benign	Het
Ces2a	T	A	8: 104,739,059	D281E	probably damaging	Het
Cetn2	A	T	X: 72,914,921	D116E	probably damaging	Het
Ctu2	G	T	8: 122,478,791		probably null	Het
Cybb	T	C	X: 9,442,589	N469D	probably benign	Het
Cygb	C	T	11: 116,649,923	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,403,868	V186M	possibly damaging	Het
Defb29	T	A	2: 152,539,022		probably null	Het
Depdc7	T	G	2: 104,730,349	Q100P	probably damaging	Het
Dhx30	A	C	9: 110,097,183	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,341,424	K105*	probably null	Het
Efhc1	T	C	1: 20,967,343	I248T	probably damaging	Het
Entpd2	A	G	2: 25,398,108	T115A	probably damaging	Het
Epb42	G	T	2: 121,025,746	A439E	probably benign	Het
Epp13	T	C	7: 6,269,899		probably benign	Het
Esm1	T	G	13: 113,210,084	L81R	probably damaging	Het
F8	T	C	X: 75,287,381	S968G	probably benign	Het
Fam234b	T	G	6: 135,225,203	Y308D	probably damaging	Het
Fbxo46	T	G	7: 19,137,214	V586G	probably damaging	Het
Foxp1	C	A	6: 98,930,083		probably benign	Het
Gm10754	A	T	10: 97,682,274		probably benign	Het
Gm12355	T	A	11: 98,625,320	R76*	probably null	Het
Gm12695	A	C	4: 96,762,133		probably benign	Het
Gm438	T	C	4: 144,786,368	I54V	probably benign	Het
Gm5468	T	C	15: 25,414,640		probably benign	Het
Grhl1	T	C	12: 24,581,491	S66P	probably damaging	Het
Gstt3	A	T	10: 75,776,742		probably null	Het
Gtf2i	A	G	5: 134,279,427		probably benign	Het
Gzmk	C	A	13: 113,172,026	G175C	probably damaging	Het
Helz2	T	C	2: 181,231,146		probably benign	Het
Ift20	T	C	11: 78,539,954		probably benign	Het
Intu	A	G	3: 40,687,786	D491G	probably damaging	Het
Itch	G	T	2: 155,173,933		probably null	Het
Itgb5	A	G	16: 33,844,992	N26S	possibly damaging	Het
Lama2	A	T	10: 27,015,538	S2526R	probably damaging	Het
Lat2	A	G	5: 134,608,173	I40T	probably damaging	Het
Lipa	T	A	19: 34,493,997	M393L	probably benign	Het
Lipa	G	T	19: 34,493,971		probably benign	Het
Lpcat1	T	A	13: 73,484,298	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,703,007	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,701,830	N50K	unknown	Het
Lrrk2	T	A	15: 91,750,277	Y1415N	probably damaging	Het
Lsamp	A	T	16: 42,144,715	T312S	probably benign	Het
Man2a2	T	C	7: 80,363,941	E454G	probably benign	Het
Mcm3	T	C	1: 20,808,839	K570R	probably damaging	Het
Mctp2	C	A	7: 72,228,471		probably null	Het
Msantd2	T	G	9: 37,523,500	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078	I362T	probably benign	Het
Myh15	A	T	16: 49,145,404	N1224I	probably benign	Het
Myo18a	A	G	11: 77,864,786	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,829,873		probably benign	Het
Myrfl	G	T	10: 116,829,004	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,946,497	Q87H	probably benign	Het
Nol9	G	A	4: 152,046,573	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,708,129	S219P	probably benign	Het
Olfr902	T	C	9: 38,449,193	F107S	possibly damaging	Het
Olfr945	A	T	9: 39,258,224	Y149*	probably null	Het
Pfkm	A	G	15: 98,128,242	M573V	probably damaging	Het
Plec	A	T	15: 76,181,316	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,915,267	E47*	probably null	Het
Rbm33	T	A	5: 28,410,755	I32N	probably damaging	Het
Rgs12	A	T	5: 35,025,883	D310V	probably damaging	Het
Ripor2	A	C	13: 24,696,529	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,162,241	E124G	probably benign	Het
Shroom2	C	T	X: 152,659,553	S872N	probably benign	Het
Slc44a5	A	G	3: 154,251,014	Y301C	probably damaging	Het
Smap1	A	T	1: 23,891,914	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,221,023		probably benign	Het
Spata5	G	T	3: 37,464,545	G743W	probably damaging	Het
Sptbn4	T	A	7: 27,394,148		probably benign	Het
Stag3	A	G	5: 138,282,693	K49R	probably damaging	Het
Stim1	C	A	7: 102,268,551	A46E	unknown	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,835,217	T114A	probably benign	Het
Tln2	G	A	9: 67,221,525		probably benign	Het
Tmem2	T	A	19: 21,811,877	D558E	probably damaging	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Vwde	G	A	6: 13,187,137	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,134,233	T121A	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
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
IGL03366:Pcdhb19	APN	18	37498612	missense	possibly damaging	0.95
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
X0062:Pcdhb19	UTSW	18	37497175	missense	probably benign

Posted On

2015-12-18