Mutagenetix > Incidental Mutation

Incidental Mutation 'R4895:Pcdhb3'

377600

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb3

Ensembl Gene

ENSMUSG00000045498

Gene Name

protocadherin beta 3

Synonyms

PcdhbC

MMRRC Submission

042499-MU

Accession Numbers

Essential gene?

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

Stock #

R4895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37433852-37437638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37434759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 242 (F242L)

Ref Sequence

ENSEMBL: ENSMUSP00000059180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91XZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000051754
AA Change: F242L

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

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498
AA Change: F242L

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
CA	44	131	6.29e-1	SMART
CA	155	240	7.16e-21	SMART
CA	264	345	1.22e-23	SMART
CA	368	449	2.86e-20	SMART
CA	473	559	2.55e-26	SMART
CA	589	670	1.11e-8	SMART
Pfam:Cadherin_C_2	687	770	9.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056522

SMART Domains

Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	32	114	5.2e-33	PFAM
CA	157	242	1.74e-19	SMART
CA	266	347	5.99e-23	SMART
CA	370	451	1.16e-20	SMART
CA	475	561	5.94e-27	SMART
CA	591	672	2.03e-11	SMART
Pfam:Cadherin_C_2	688	771	3.5e-26	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

noncoding transcript
Transcript: ENSMUST00000193025

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

Meta Mutation Damage Score

0.1863

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,454,990 (GRCm39)		probably benign	Het
Abat	G	A	16: 8,433,826 (GRCm39)	A392T	probably benign	Het
Abca14	G	A	7: 119,846,572 (GRCm39)		probably null	Het
Abcc6	A	T	7: 45,630,414 (GRCm39)	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,392,401 (GRCm39)		probably benign	Het
Adgrf1	G	T	17: 43,621,511 (GRCm39)	V583L	probably benign	Het
Aftph	T	C	11: 20,646,801 (GRCm39)	D825G	probably damaging	Het
Ahnak	T	C	19: 8,994,805 (GRCm39)	V5363A	probably benign	Het
Apba3	G	A	10: 81,107,117 (GRCm39)		probably null	Het
Asb13	T	C	13: 3,693,589 (GRCm39)	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266 (GRCm39)	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,256,289 (GRCm39)	H223Q	probably benign	Het
Best1	A	G	19: 9,970,135 (GRCm39)	L159P	probably benign	Het
Cacna1h	A	T	17: 25,608,396 (GRCm39)	M731K	probably damaging	Het
Catspere1	T	A	1: 177,687,427 (GRCm39)		noncoding transcript	Het
Cenpv	A	T	11: 62,418,346 (GRCm39)	Y202*	probably null	Het
Cep57	A	T	9: 13,727,449 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,084 (GRCm39)	D363V	possibly damaging	Het
Cluh	A	G	11: 74,558,231 (GRCm39)	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,551,347 (GRCm39)		probably null	Het
Dnajc11	T	C	4: 152,064,390 (GRCm39)	F514L	probably damaging	Het
Efcab3	C	T	11: 104,611,112 (GRCm39)	T318I	probably benign	Het
Efcab3	T	A	11: 105,008,227 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,640,496 (GRCm39)	D1026G	probably damaging	Het
Eif2b4	T	G	5: 31,350,298 (GRCm39)	Q8P	probably benign	Het
Epha6	A	T	16: 59,486,918 (GRCm39)	V1043E	probably benign	Het
Gm11562	G	T	11: 99,511,141 (GRCm39)	Q20K	unknown	Het
Gm14415	A	T	2: 176,796,114 (GRCm39)		noncoding transcript	Het
Gm5431	A	G	11: 48,779,855 (GRCm39)	S634P	probably damaging	Het
Gpld1	C	A	13: 25,163,711 (GRCm39)	N501K	probably damaging	Het
Gsn	C	T	2: 35,192,590 (GRCm39)	R513C	probably damaging	Het
Gulp1	T	C	1: 44,827,757 (GRCm39)	F300L	probably benign	Het
H2aj	T	C	6: 136,785,660 (GRCm39)	V108A	possibly damaging	Het
Haus3	T	C	5: 34,325,414 (GRCm39)	R82G	probably benign	Het
Herc2	G	A	7: 55,872,734 (GRCm39)	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,553,130 (GRCm39)	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,171,014 (GRCm39)	I53V	probably benign	Het
Inpp5e	C	T	2: 26,287,924 (GRCm39)	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367 (GRCm39)	C491*	probably null	Het
Itpkb	C	A	1: 180,241,460 (GRCm39)	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,905,784 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,742,368 (GRCm39)		probably benign	Het
Lamb3	C	T	1: 193,014,622 (GRCm39)	R594*	probably null	Het
Map3k20	A	G	2: 72,232,700 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,624,472 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,231,752 (GRCm39)	T651A	probably benign	Het
Nbeal1	A	G	1: 60,332,062 (GRCm39)	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,397,618 (GRCm39)	Y61H	probably damaging	Het
Npat	T	A	9: 53,481,789 (GRCm39)	L1166M	probably damaging	Het
Or12e1	A	C	2: 87,022,192 (GRCm39)	I54L	probably benign	Het
Or4c108	A	T	2: 88,804,055 (GRCm39)	F60Y	probably benign	Het
Or5ak20	A	T	2: 85,183,341 (GRCm39)	*310K	probably null	Het
Or5b97	C	T	19: 12,878,251 (GRCm39)	V298M	probably damaging	Het
Or5h22	C	T	16: 58,895,020 (GRCm39)	C141Y	probably benign	Het
Or5p66	A	C	7: 107,885,802 (GRCm39)	I177S	probably damaging	Het
Phip	A	G	9: 82,841,648 (GRCm39)	V57A	probably benign	Het
Plekha7	A	T	7: 115,788,626 (GRCm39)		probably null	Het
Pot1a	A	C	6: 25,753,205 (GRCm39)	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,831,126 (GRCm39)	P217L	probably damaging	Het
Prepl	A	G	17: 85,388,494 (GRCm39)	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,759,513 (GRCm39)	I175V	probably benign	Het
Ranbp6	A	T	19: 29,787,175 (GRCm39)	I1059N	possibly damaging	Het
Rhag	A	G	17: 41,122,242 (GRCm39)	Q59R	probably benign	Het
Sema4c	A	C	1: 36,592,651 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,542,656 (GRCm39)	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,019,220 (GRCm39)		probably null	Het
Tbrg1	A	T	9: 37,566,375 (GRCm39)	I54N	probably damaging	Het
Tchh	A	T	3: 93,352,993 (GRCm39)	E811V	unknown	Het
Tenm3	T	A	8: 48,754,006 (GRCm39)	D799V	probably damaging	Het
Tlr5	T	C	1: 182,801,764 (GRCm39)	L342P	probably damaging	Het
Tppp	C	T	13: 74,178,996 (GRCm39)	R146*	probably null	Het
Trpm4	A	T	7: 44,967,482 (GRCm39)	M574K	probably damaging	Het
Uggt1	A	T	1: 36,195,345 (GRCm39)	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,256,298 (GRCm39)	K1124N	probably damaging	Het
Usf3	A	C	16: 44,041,459 (GRCm39)	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,208,973 (GRCm39)	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,167,182 (GRCm39)	H650N	probably benign	Het
Vmn2r59	T	A	7: 41,695,218 (GRCm39)	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,187,396 (GRCm39)	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,910,892 (GRCm39)	R235*	probably null	Het

Other mutations in Pcdhb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Pcdhb3	APN	18	37,436,001 (GRCm39)	missense	probably benign	0.12
IGL01568:Pcdhb3	APN	18	37,435,054 (GRCm39)	missense	possibly damaging	0.74
IGL02541:Pcdhb3	APN	18	37,435,198 (GRCm39)	missense	probably damaging	0.99
IGL02852:Pcdhb3	APN	18	37,435,150 (GRCm39)	missense	probably damaging	1.00
IGL03140:Pcdhb3	APN	18	37,434,272 (GRCm39)	missense	probably benign	0.00
IGL03336:Pcdhb3	APN	18	37,436,014 (GRCm39)	missense	possibly damaging	0.86
R0380:Pcdhb3	UTSW	18	37,435,210 (GRCm39)	missense	possibly damaging	0.48
R1558:Pcdhb3	UTSW	18	37,434,634 (GRCm39)	missense	probably damaging	1.00
R1713:Pcdhb3	UTSW	18	37,436,375 (GRCm39)	missense	probably benign
R1728:Pcdhb3	UTSW	18	37,434,931 (GRCm39)	missense	probably damaging	1.00
R1784:Pcdhb3	UTSW	18	37,434,931 (GRCm39)	missense	probably damaging	1.00
R1838:Pcdhb3	UTSW	18	37,434,370 (GRCm39)	missense	probably benign	0.00
R2079:Pcdhb3	UTSW	18	37,436,362 (GRCm39)	missense	possibly damaging	0.93
R2164:Pcdhb3	UTSW	18	37,435,239 (GRCm39)	missense	possibly damaging	0.78
R2513:Pcdhb3	UTSW	18	37,434,294 (GRCm39)	missense	probably benign	0.17
R2513:Pcdhb3	UTSW	18	37,434,292 (GRCm39)	nonsense	probably null
R2513:Pcdhb3	UTSW	18	37,434,293 (GRCm39)	missense	probably damaging	1.00
R3080:Pcdhb3	UTSW	18	37,434,535 (GRCm39)	missense	probably damaging	1.00
R3755:Pcdhb3	UTSW	18	37,435,878 (GRCm39)	missense	probably damaging	0.97
R3756:Pcdhb3	UTSW	18	37,435,878 (GRCm39)	missense	probably damaging	0.97
R3862:Pcdhb3	UTSW	18	37,436,329 (GRCm39)	missense	probably damaging	1.00
R3863:Pcdhb3	UTSW	18	37,436,329 (GRCm39)	missense	probably damaging	1.00
R3864:Pcdhb3	UTSW	18	37,436,329 (GRCm39)	missense	probably damaging	1.00
R4114:Pcdhb3	UTSW	18	37,435,093 (GRCm39)	missense	probably benign	0.03
R4917:Pcdhb3	UTSW	18	37,435,452 (GRCm39)	missense	probably damaging	0.99
R5508:Pcdhb3	UTSW	18	37,434,179 (GRCm39)	missense	probably damaging	1.00
R5779:Pcdhb3	UTSW	18	37,434,520 (GRCm39)	missense	probably benign	0.26
R5848:Pcdhb3	UTSW	18	37,434,700 (GRCm39)	missense	probably benign	0.39
R5991:Pcdhb3	UTSW	18	37,434,561 (GRCm39)	missense	probably benign	0.07
R6014:Pcdhb3	UTSW	18	37,435,706 (GRCm39)	missense	probably damaging	1.00
R6111:Pcdhb3	UTSW	18	37,435,242 (GRCm39)	missense	probably benign	0.00
R6282:Pcdhb3	UTSW	18	37,434,699 (GRCm39)	missense	probably damaging	1.00
R6339:Pcdhb3	UTSW	18	37,433,998 (GRCm39)	intron	probably benign
R6425:Pcdhb3	UTSW	18	37,435,528 (GRCm39)	missense	possibly damaging	0.64
R6860:Pcdhb3	UTSW	18	37,434,763 (GRCm39)	missense	probably benign	0.01
R6896:Pcdhb3	UTSW	18	37,434,265 (GRCm39)	missense	probably damaging	1.00
R6946:Pcdhb3	UTSW	18	37,435,672 (GRCm39)	missense	probably damaging	1.00
R7110:Pcdhb3	UTSW	18	37,435,975 (GRCm39)	missense	possibly damaging	0.87
R7236:Pcdhb3	UTSW	18	37,434,505 (GRCm39)	missense	probably damaging	1.00
R7402:Pcdhb3	UTSW	18	37,434,657 (GRCm39)	missense	probably benign
R7469:Pcdhb3	UTSW	18	37,434,388 (GRCm39)	missense	probably benign	0.02
R7723:Pcdhb3	UTSW	18	37,435,565 (GRCm39)	missense	probably damaging	0.98
R7738:Pcdhb3	UTSW	18	37,436,012 (GRCm39)	missense	probably benign	0.00
R7800:Pcdhb3	UTSW	18	37,434,974 (GRCm39)	missense	probably benign	0.00
R7817:Pcdhb3	UTSW	18	37,435,982 (GRCm39)	missense	probably benign
R8157:Pcdhb3	UTSW	18	37,436,292 (GRCm39)	missense	probably damaging	1.00
R9264:Pcdhb3	UTSW	18	37,435,166 (GRCm39)	missense	probably benign	0.03
R9482:Pcdhb3	UTSW	18	37,434,736 (GRCm39)	missense	probably damaging	1.00
R9488:Pcdhb3	UTSW	18	37,435,416 (GRCm39)	missense	possibly damaging	0.62
X0026:Pcdhb3	UTSW	18	37,434,817 (GRCm39)	missense	probably damaging	0.96
X0066:Pcdhb3	UTSW	18	37,435,392 (GRCm39)	nonsense	probably null
Z1177:Pcdhb3	UTSW	18	37,435,089 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAACTACACGGTCTCTCCC -3'
(R):5'- AAAGGCCTCCACCATCCTTG -3'

Sequencing Primer
(F):5'- CATGTTCACACCCGCCG -3'
(R):5'- GGCCTCTATGTCAACCTCATAAG -3'

Posted On

2016-03-17