Mutagenetix > Incidental Mutation

Incidental Mutation 'R6031:Pcdhb19'

480434

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb19

Ensembl Gene

ENSMUSG00000043313

Gene Name

protocadherin beta 19

Synonyms

Pcdhb11, PcdhbS

MMRRC Submission

044203-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37630049-37637181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37630776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 190 (K190N)

Ref Sequence

ENSEMBL: ENSMUSP00000053326 (fasta)

Gene Model

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

AlphaFold

Q91Y01

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: K190N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: K190N

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

1x: 99.9%
3x: 99.5%
10x: 96.7%
20x: 88.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,214,084 (GRCm39)	Y304H	possibly damaging	Het
Add2	A	G	6: 86,075,655 (GRCm39)	E268G	probably damaging	Het
Akr1b1	A	C	6: 34,289,609 (GRCm39)	V67G	probably benign	Het
Alms1	A	T	6: 85,599,937 (GRCm39)	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,366,965 (GRCm39)	D1082V	probably damaging	Het
Asb6	A	G	2: 30,714,207 (GRCm39)	V301A	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atg7	T	A	6: 114,648,194 (GRCm39)	C31S	probably benign	Het
Camsap2	A	T	1: 136,208,176 (GRCm39)	N1105K	possibly damaging	Het
Ccdc125	C	T	13: 100,820,877 (GRCm39)		probably null	Het
Ccdc63	T	C	5: 122,267,799 (GRCm39)	I56V	possibly damaging	Het
Cpd	T	C	11: 76,681,714 (GRCm39)	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,421,556 (GRCm39)		probably null	Het
Creb3l2	A	T	6: 37,311,369 (GRCm39)	D473E	probably benign	Het
Crocc	A	T	4: 140,761,668 (GRCm39)		probably null	Het
Ctsd	A	T	7: 141,930,451 (GRCm39)	C364S	probably damaging	Het
Disp2	G	T	2: 118,620,275 (GRCm39)	V336L	probably benign	Het
Efr3b	A	G	12: 4,017,106 (GRCm39)	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,846,427 (GRCm39)	V230A	probably damaging	Het
Fat3	T	A	9: 15,899,788 (GRCm39)	T3082S	probably benign	Het
Frmd3	T	C	4: 74,105,688 (GRCm39)	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202 (GRCm39)	R185Q	probably benign	Het
Gatb	T	C	3: 85,520,818 (GRCm39)	I309T	possibly damaging	Het
Gfi1b	G	A	2: 28,503,820 (GRCm39)	Q127*	probably null	Het
Gfpt1	C	A	6: 87,063,302 (GRCm39)	T563N	probably damaging	Het
Gria1	A	G	11: 57,108,608 (GRCm39)	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,666,465 (GRCm39)	V305D	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Iars1	T	C	13: 49,859,307 (GRCm39)	V9A	probably damaging	Het
Ipo4	G	A	14: 55,869,596 (GRCm39)	P355S	probably damaging	Het
Jade2	G	T	11: 51,717,413 (GRCm39)	C314*	probably null	Het
Kri1	T	C	9: 21,186,565 (GRCm39)	E597G	probably benign	Het
Mcub	A	G	3: 129,720,038 (GRCm39)	Y152H	probably damaging	Het
Med23	C	T	10: 24,779,646 (GRCm39)	R542*	probably null	Het
Ndc80	T	C	17: 71,818,483 (GRCm39)	N291S	probably benign	Het
Nop2	T	C	6: 125,110,529 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,896,218 (GRCm39)	N984S	probably damaging	Het
Ntm	A	C	9: 28,920,671 (GRCm39)	L86R	probably damaging	Het
Numa1	T	A	7: 101,661,219 (GRCm39)	D1847E	possibly damaging	Het
Odf2l	A	G	3: 144,845,624 (GRCm39)	Q334R	probably damaging	Het
Or10ak11	A	T	4: 118,687,588 (GRCm39)		probably null	Het
Or2ag2	C	T	7: 106,485,134 (GRCm39)	V297I	possibly damaging	Het
Or4a39	T	A	2: 89,237,316 (GRCm39)	T36S	probably damaging	Het
Or5ac17	T	C	16: 59,036,296 (GRCm39)	R227G	probably benign	Het
Or6ae1	A	T	7: 139,742,722 (GRCm39)	V47E	possibly damaging	Het
Or6c203	A	G	10: 129,010,224 (GRCm39)	V222A	probably benign	Het
Pacc1	A	G	1: 191,073,037 (GRCm39)	R153G	probably benign	Het
Pdik1l	A	G	4: 134,006,352 (GRCm39)	F197L	probably damaging	Het
Rnf113a2	T	C	12: 84,464,764 (GRCm39)	F219L	probably damaging	Het
Rnf208	A	C	2: 25,133,776 (GRCm39)	T157P	probably damaging	Het
Scn8a	A	T	15: 100,881,865 (GRCm39)	D644V	probably damaging	Het
Thbs3	T	A	3: 89,125,401 (GRCm39)	C204S	probably damaging	Het
Tlr3	A	G	8: 45,851,565 (GRCm39)	I444T	probably damaging	Het
Trpm8	A	T	1: 88,282,191 (GRCm39)	I696F	possibly damaging	Het
Ttn	A	T	2: 76,660,941 (GRCm39)	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038 (GRCm39)	V139A	probably benign	Het
Uggt2	A	T	14: 119,308,238 (GRCm39)	V381D	probably benign	Het
Vgll3	T	A	16: 65,636,367 (GRCm39)	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,048,158 (GRCm39)	T78A	probably benign	Het
Vps13b	T	A	15: 35,472,114 (GRCm39)	L806M	probably damaging	Het
Vps13d	A	C	4: 144,895,079 (GRCm39)	H394Q	probably benign	Het
Wdr53	T	A	16: 32,075,536 (GRCm39)	V247D	probably damaging	Het
Wdr81	A	T	11: 75,338,695 (GRCm39)	L1488Q	probably damaging	Het
Zc3h6	A	G	2: 128,809,732 (GRCm39)	D3G	possibly damaging	Het
Zfp93	G	T	7: 23,975,725 (GRCm39)	C570F	probably damaging	Het
Zfp943	C	T	17: 22,212,357 (GRCm39)	T481I	probably benign	Het

Other mutations in Pcdhb19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Pcdhb19	APN	18	37,631,042 (GRCm39)	missense	probably damaging	1.00
IGL02070:Pcdhb19	APN	18	37,631,597 (GRCm39)	missense	probably damaging	1.00
IGL02348:Pcdhb19	APN	18	37,631,861 (GRCm39)	missense	probably damaging	1.00
IGL02866:Pcdhb19	APN	18	37,632,163 (GRCm39)	missense	possibly damaging	0.91
IGL02869:Pcdhb19	APN	18	37,631,690 (GRCm39)	missense	probably damaging	0.98
IGL03118:Pcdhb19	APN	18	37,632,618 (GRCm39)	intron	probably benign
IGL03120:Pcdhb19	APN	18	37,631,209 (GRCm39)	missense	probably benign	0.09
IGL03135:Pcdhb19	APN	18	37,631,588 (GRCm39)	missense	probably benign	0.37
IGL03366:Pcdhb19	APN	18	37,631,665 (GRCm39)	missense	possibly damaging	0.95
R0147:Pcdhb19	UTSW	18	37,630,235 (GRCm39)	missense	probably benign	0.01
R0148:Pcdhb19	UTSW	18	37,630,235 (GRCm39)	missense	probably benign	0.01
R0432:Pcdhb19	UTSW	18	37,632,588 (GRCm39)	missense	probably benign	0.01
R0609:Pcdhb19	UTSW	18	37,631,005 (GRCm39)	missense	probably benign
R1438:Pcdhb19	UTSW	18	37,631,015 (GRCm39)	missense	probably damaging	1.00
R2255:Pcdhb19	UTSW	18	37,630,997 (GRCm39)	missense	probably benign	0.00
R2265:Pcdhb19	UTSW	18	37,630,736 (GRCm39)	missense	probably damaging	0.99
R3500:Pcdhb19	UTSW	18	37,630,532 (GRCm39)	nonsense	probably null
R3708:Pcdhb19	UTSW	18	37,630,442 (GRCm39)	missense	probably benign	0.04
R4165:Pcdhb19	UTSW	18	37,632,243 (GRCm39)	missense	probably benign
R4166:Pcdhb19	UTSW	18	37,632,243 (GRCm39)	missense	probably benign
R4863:Pcdhb19	UTSW	18	37,632,161 (GRCm39)	missense	probably benign	0.00
R5217:Pcdhb19	UTSW	18	37,630,939 (GRCm39)	missense	probably benign	0.00
R5770:Pcdhb19	UTSW	18	37,631,090 (GRCm39)	missense	possibly damaging	0.73
R6031:Pcdhb19	UTSW	18	37,630,776 (GRCm39)	missense	probably damaging	1.00
R6372:Pcdhb19	UTSW	18	37,630,419 (GRCm39)	missense	probably benign	0.04
R6454:Pcdhb19	UTSW	18	37,632,322 (GRCm39)	missense	probably benign	0.43
R6985:Pcdhb19	UTSW	18	37,630,211 (GRCm39)	missense	probably benign	0.00
R7658:Pcdhb19	UTSW	18	37,632,034 (GRCm39)	missense	probably damaging	0.99
R7662:Pcdhb19	UTSW	18	37,631,788 (GRCm39)	missense	probably damaging	0.98
R7910:Pcdhb19	UTSW	18	37,630,720 (GRCm39)	missense	probably benign	0.43
R8041:Pcdhb19	UTSW	18	37,630,367 (GRCm39)	missense	possibly damaging	0.87
R8318:Pcdhb19	UTSW	18	37,630,999 (GRCm39)	missense	possibly damaging	0.86
R8989:Pcdhb19	UTSW	18	37,631,476 (GRCm39)	missense	probably benign	0.04
R9053:Pcdhb19	UTSW	18	37,631,143 (GRCm39)	missense	probably benign	0.01
R9164:Pcdhb19	UTSW	18	37,631,852 (GRCm39)	missense	probably damaging	1.00
R9197:Pcdhb19	UTSW	18	37,631,354 (GRCm39)	missense	probably damaging	1.00
R9309:Pcdhb19	UTSW	18	37,631,858 (GRCm39)	missense	probably damaging	1.00
R9377:Pcdhb19	UTSW	18	37,632,299 (GRCm39)	missense	probably damaging	1.00
R9402:Pcdhb19	UTSW	18	37,632,532 (GRCm39)	nonsense	probably null
R9432:Pcdhb19	UTSW	18	37,630,628 (GRCm39)	missense	possibly damaging	0.91
R9553:Pcdhb19	UTSW	18	37,631,848 (GRCm39)	missense	probably damaging	1.00
X0062:Pcdhb19	UTSW	18	37,630,228 (GRCm39)	missense	probably benign
Z1177:Pcdhb19	UTSW	18	37,631,498 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26