Mutagenetix > Incidental Mutation

Incidental Mutation 'R2255:Pcdhb19'

241993

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb19

Ensembl Gene

ENSMUSG00000043313

Gene Name

protocadherin beta 19

Synonyms

Pcdhb11, PcdhbS

MMRRC Submission

040255-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37630049-37637181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37630997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 264 (A264V)

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 benign
Transcript: ENSMUST00000059571
AA Change: A264V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: A264V

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	A	17: 46,616,561 (GRCm39)	T1210I	probably benign	Het
Agbl1	T	C	7: 76,071,932 (GRCm39)	F581S	probably damaging	Het
Ambra1	A	T	2: 91,747,806 (GRCm39)	N1061Y	probably damaging	Het
Aoc1l1	G	A	6: 48,952,891 (GRCm39)	R272H	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,361 (GRCm39)	L132S	probably damaging	Het
Atp10b	G	A	11: 43,125,207 (GRCm39)	V1058I	probably damaging	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Bpifa6	T	A	2: 153,832,815 (GRCm39)	I310N	probably damaging	Het
Btnl9	A	T	11: 49,060,143 (GRCm39)	L535*	probably null	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Catip	T	C	1: 74,408,159 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,921,996 (GRCm39)	S1023R	probably damaging	Het
Ces2g	G	A	8: 105,694,046 (GRCm39)	E461K	probably damaging	Het
Chad	C	A	11: 94,456,523 (GRCm39)	H200Q	possibly damaging	Het
Crbn	C	T	6: 106,772,159 (GRCm39)		probably null	Het
Crip3	G	C	17: 46,740,298 (GRCm39)	E33Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,040,894 (GRCm39)	R105S	probably damaging	Het
Dmxl1	C	T	18: 49,979,706 (GRCm39)	H114Y	probably benign	Het
Dpp3	T	C	19: 4,968,347 (GRCm39)	N242D	probably benign	Het
Dtx3l	T	C	16: 35,756,949 (GRCm39)	N78S	probably benign	Het
Dync2h1	A	G	9: 6,955,905 (GRCm39)		probably null	Het
Esrp1	A	G	4: 11,365,211 (GRCm39)	V260A	probably damaging	Het
Etfdh	A	G	3: 79,511,349 (GRCm39)	V544A	probably benign	Het
Ezhip	T	G	X: 5,994,754 (GRCm39)	E87A	probably benign	Het
Fcgr1	G	T	3: 96,193,233 (GRCm39)	H255N	possibly damaging	Het
Fcrl2	G	T	3: 87,164,655 (GRCm39)	Y290*	probably null	Het
Frem2	A	G	3: 53,559,935 (GRCm39)	V1524A	probably damaging	Het
Gabbr1	T	C	17: 37,382,758 (GRCm39)	I817T	probably damaging	Het
Gapdhs	G	C	7: 30,429,333 (GRCm39)		probably null	Het
Gm57858	A	G	3: 36,074,099 (GRCm39)	V350A	probably benign	Het
Gopc	A	T	10: 52,225,181 (GRCm39)	I356K	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Gpr171	A	G	3: 59,005,628 (GRCm39)	V49A	probably benign	Het
Greb1l	T	A	18: 10,554,857 (GRCm39)	N1634K	probably damaging	Het
Gria1	G	A	11: 57,076,775 (GRCm39)	R57H	probably damaging	Het
Herpud1	A	G	8: 95,121,241 (GRCm39)	E344G	probably benign	Het
Hhip	A	G	8: 80,771,810 (GRCm39)	F167L	probably damaging	Het
Hp1bp3	T	A	4: 137,953,209 (GRCm39)	D84E	probably damaging	Het
Ier3	A	G	17: 36,133,153 (GRCm39)	Y145C	probably damaging	Het
Ifi47	A	T	11: 48,987,474 (GRCm39)	I414L	probably benign	Het
Ifnl2	C	T	7: 28,209,638 (GRCm39)	A50T	possibly damaging	Het
Jade1	A	G	3: 41,546,185 (GRCm39)	Y70C	probably damaging	Het
Kif1b	A	T	4: 149,359,454 (GRCm39)	F94L	probably damaging	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,523 (GRCm39)	L26S	possibly damaging	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nae1	T	A	8: 105,256,700 (GRCm39)	D69V	probably damaging	Het
Nbr1	T	A	11: 101,463,643 (GRCm39)	V625E	possibly damaging	Het
Nek1	T	C	8: 61,542,807 (GRCm39)	L702P	probably damaging	Het
Ntf3	T	C	6: 126,078,689 (GRCm39)	*272W	probably null	Het
Ofcc1	A	C	13: 40,248,181 (GRCm39)	L651R	probably damaging	Het
Olfm3	A	T	3: 114,915,842 (GRCm39)		probably null	Het
Pear1	C	A	3: 87,659,493 (GRCm39)	W780C	probably damaging	Het
Pkhd1	T	A	1: 20,635,863 (GRCm39)	H489L	probably benign	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Rbm10	G	A	X: 20,501,978 (GRCm39)	R9H	unknown	Het
Rwdd1	T	C	10: 33,878,466 (GRCm39)	E123G	probably damaging	Het
Slc22a2	G	T	17: 12,818,062 (GRCm39)	V213F	probably damaging	Het
Slc34a1	T	C	13: 24,004,991 (GRCm39)	I412T	probably benign	Het
Smarca2	A	T	19: 26,748,438 (GRCm39)	I98L	probably benign	Het
Spag6l	T	C	16: 16,595,203 (GRCm39)	E394G	probably damaging	Het
Spdef	T	C	17: 27,939,269 (GRCm39)	T26A	probably benign	Het
Stk17b	T	C	1: 53,815,731 (GRCm39)	I23V	probably benign	Het
Sult2a7	A	G	7: 14,225,818 (GRCm39)	I56T	probably damaging	Het
Tango6	T	A	8: 107,415,926 (GRCm39)		probably null	Het
Tex46	T	C	4: 136,337,844 (GRCm39)	L12P	possibly damaging	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc5cl	T	A	17: 48,766,974 (GRCm39)	I116N	possibly damaging	Het
Unc80	A	T	1: 66,657,417 (GRCm39)	I1630F	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Whrn	C	T	4: 63,336,385 (GRCm39)	V295M	possibly damaging	Het
Wrn	G	A	8: 33,819,230 (GRCm39)	P241S	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp687	A	T	3: 94,917,748 (GRCm39)	C675S	probably damaging	Het
Zfp954	A	G	7: 7,118,321 (GRCm39)	Y408H	possibly damaging	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
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
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

PCR Primer
(F):5'- AGTTTTGGACAAGGCGCTGG -3'
(R):5'- AAAGTCCTCCCCGATCAGTAG -3'

Sequencing Primer
(F):5'- TTGGACAAGGCGCTGGATTAC -3'
(R):5'- TCCCCGATCAGTAGCTTTAATG -3'

Posted On

2014-10-16