Mutagenetix > Incidental Mutation

Incidental Mutation 'R9377:Pcdhb19'

709736

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb19

Ensembl Gene

ENSMUSG00000043313

Gene Name

protocadherin beta 19

Synonyms

Pcdhb11, PcdhbS

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37630049-37637181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37632299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 698 (V698E)

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: V698E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313
AA Change: V698E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,273 (GRCm39)	T55A	probably benign	Het
3110070M22Rik	T	A	13: 119,624,822 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,918,221 (GRCm39)	N171K	probably benign	Het
Adam18	G	A	8: 25,104,859 (GRCm39)	Q652*	probably null	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Aff1	C	T	5: 103,981,685 (GRCm39)	S608L	probably damaging	Het
Amfr	A	T	8: 94,707,018 (GRCm39)	F432L	probably damaging	Het
Ankfn1	G	A	11: 89,332,284 (GRCm39)	L421F	possibly damaging	Het
Ankrd31	T	C	13: 97,014,733 (GRCm39)	V1334A	probably benign	Het
Ascc3	C	T	10: 50,608,858 (GRCm39)	H1534Y	possibly damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atf3	T	C	1: 190,909,510 (GRCm39)	H53R	probably benign	Het
Bsn	C	A	9: 107,990,800 (GRCm39)	V1651F	probably damaging	Het
Bsn	A	T	9: 107,993,361 (GRCm39)	L797Q	probably damaging	Het
Bzw2	T	C	12: 36,180,131 (GRCm39)	D32G	probably damaging	Het
Cacna1e	A	T	1: 154,361,458 (GRCm39)	M531K	possibly damaging	Het
Cep120	A	G	18: 53,851,592 (GRCm39)	F567L	possibly damaging	Het
Cit	T	C	5: 116,084,914 (GRCm39)	I815T	probably benign	Het
Cnot6l	G	T	5: 96,276,826 (GRCm39)	Q121K	probably benign	Het
Col4a2	G	A	8: 11,483,725 (GRCm39)	G882R	probably damaging	Het
Col6a3	A	G	1: 90,743,961 (GRCm39)	F536L	probably damaging	Het
Copg2	T	A	6: 30,793,721 (GRCm39)	H394L	possibly damaging	Het
Cst13	A	G	2: 148,670,165 (GRCm39)	M112V	possibly damaging	Het
Cyp2j7	G	T	4: 96,124,786 (GRCm39)	N37K	probably benign	Het
Cyp2u1	T	A	3: 131,091,449 (GRCm39)	N357I	possibly damaging	Het
Dars1	T	C	1: 128,344,945 (GRCm39)	T4A	probably benign	Het
Dclk1	G	T	3: 55,429,374 (GRCm39)	C414F	possibly damaging	Het
Dmbt1	A	T	7: 130,694,832 (GRCm39)	Y1009F	unknown	Het
Ebf4	T	C	2: 130,148,775 (GRCm39)	Y117H	probably damaging	Het
Eif2b4	A	G	5: 31,348,500 (GRCm39)	Y196H	probably benign	Het
Enpp2	C	T	15: 54,739,080 (GRCm39)	R401H	probably damaging	Het
Epo	T	C	5: 137,484,017 (GRCm39)		probably benign	Het
Gli1	T	A	10: 127,173,359 (GRCm39)	T100S	possibly damaging	Het
Gml2	T	A	15: 74,695,957 (GRCm39)	F117Y	probably benign	Het
Hivep1	T	C	13: 42,335,403 (GRCm39)	V2314A	probably benign	Het
Hspb8	A	G	5: 116,547,487 (GRCm39)	I165T	probably damaging	Het
Itgax	A	T	7: 127,732,849 (GRCm39)	T243S	probably benign	Het
Itih4	G	T	14: 30,608,533 (GRCm39)	L16F	probably damaging	Het
Kmt5a	C	T	5: 124,578,064 (GRCm39)		probably benign	Het
Lamc1	T	C	1: 153,115,009 (GRCm39)	E1089G	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmbp	A	T	7: 128,317,803 (GRCm39)	N147K	probably benign	Het
Mical2	C	T	7: 111,981,246 (GRCm39)	L407F	probably benign	Het
Mybpc2	A	T	7: 44,158,999 (GRCm39)	V653D	probably benign	Het
Myo3b	G	A	2: 70,069,242 (GRCm39)	V522I	possibly damaging	Het
Nbr1	A	G	11: 101,456,590 (GRCm39)	T156A	possibly damaging	Het
Neb	T	A	2: 52,039,291 (GRCm39)		probably null	Het
Neb	T	A	2: 52,116,546 (GRCm39)	Y964F		Het
Nr2f2	T	A	7: 70,007,856 (GRCm39)	I209F	probably damaging	Het
Nwd2	A	G	5: 63,957,740 (GRCm39)	T357A	probably damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdhga6	C	T	18: 37,841,570 (GRCm39)	P430L	probably damaging	Het
Piezo2	A	G	18: 63,162,156 (GRCm39)	L2225S	possibly damaging	Het
Plekhf1	A	T	7: 37,921,203 (GRCm39)	W122R	probably damaging	Het
Pold3	A	G	7: 99,732,993 (GRCm39)	S418P	possibly damaging	Het
Poldip3	T	C	15: 83,019,589 (GRCm39)	N180S	probably benign	Het
Ppp1r21	C	T	17: 88,852,815 (GRCm39)	R65*	probably null	Het
Ppp1r3d	A	T	2: 178,055,669 (GRCm39)	V111E	probably damaging	Het
Prrg4	T	C	2: 104,669,728 (GRCm39)	I130V	probably benign	Het
Psma5	A	T	3: 108,172,448 (GRCm39)	T55S	probably benign	Het
Rbm5	C	A	9: 107,627,252 (GRCm39)	A440S	probably benign	Het
Rdx	A	G	9: 51,980,168 (GRCm39)	K254E	possibly damaging	Het
Rere	A	C	4: 150,593,342 (GRCm39)	Q312P	unknown	Het
Rest	T	C	5: 77,416,128 (GRCm39)	V114A	possibly damaging	Het
Rufy4	G	T	1: 74,171,879 (GRCm39)	V201L	probably benign	Het
Scyl1	T	C	19: 5,809,023 (GRCm39)	E727G	probably benign	Het
Serpinb6b	T	A	13: 33,152,494 (GRCm39)	M1K	probably null	Het
Sgsm1	C	A	5: 113,436,741 (GRCm39)	V30F	probably damaging	Het
Skap1	A	G	11: 96,644,921 (GRCm39)	D344G	possibly damaging	Het
Slc26a7	T	C	4: 14,516,189 (GRCm39)	T547A	probably benign	Het
Slc6a3	C	A	13: 73,692,966 (GRCm39)	S195R	probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Spock3	A	T	8: 63,798,746 (GRCm39)	M253L	probably damaging	Het
Ssh2	A	G	11: 77,298,974 (GRCm39)	Y107C	possibly damaging	Het
Svil	T	C	18: 5,057,294 (GRCm39)	S581P	probably benign	Het
Tbc1d14	T	C	5: 36,662,472 (GRCm39)	T553A	probably benign	Het
Tet3	T	A	6: 83,380,596 (GRCm39)	Q524L	possibly damaging	Het
Uckl1	A	T	2: 181,211,532 (GRCm39)	V456E	probably damaging	Het
Ucp2	T	C	7: 100,146,040 (GRCm39)	F4S	probably benign	Het
Vmn2r77	A	G	7: 86,444,442 (GRCm39)	I32V	probably benign	Het
Vmn2r89	T	A	14: 51,692,601 (GRCm39)	Y135N	probably benign	Het
Vtn	A	G	11: 78,390,587 (GRCm39)	E82G	probably benign	Het
Zfp758	A	G	17: 22,593,925 (GRCm39)	N137S	probably benign	Het
Zgpat	T	A	2: 181,021,646 (GRCm39)	C357*	probably null	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
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
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'- TGCTGGTCAAGGACAATGG -3'
(R):5'- GCGCAAAGTAGAGCTTTCCTC -3'

Sequencing Primer
(F):5'- GTCAAGGACAATGGCGATCCTC -3'
(R):5'- CTGGCTTCAAGAATCTGAACTC -3'

Posted On

2022-04-18