Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Pcdhb3'

702453

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb3

Ensembl Gene

ENSMUSG00000045498

Gene Name

protocadherin beta 3

Synonyms

PcdhbC

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37300799-37304585 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37302113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 377 (D377E)

Ref Sequence

ENSEMBL: ENSMUSP00000059180 (fasta)

Gene Model

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

AlphaFold

Q91XZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000051754
AA Change: D377E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498
AA Change: D377E

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

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	A	19: 11,116,466	M1L	probably benign	Het
Abca15	A	T	7: 120,401,833	I1531L	probably benign	Het
Adam28	T	C	14: 68,607,465	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,338,361	I262N	probably damaging	Het
BC067074	G	A	13: 113,319,480	V687M		Het
Catsperg2	A	T	7: 29,698,188	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,963,995	D81V	probably damaging	Het
Cep290	T	C	10: 100,498,016	V310A	possibly damaging	Het
Cep78	T	C	19: 15,974,466	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,459,768	D197V	probably damaging	Het
Col11a1	T	C	3: 114,212,160	I1647T	unknown	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cyp4a10	T	C	4: 115,524,278	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,158,238	I1336V	probably benign	Het
Dchs2	G	A	3: 83,270,477	V946M	probably damaging	Het
Dnah10	A	G	5: 124,736,836	R347G	probably damaging	Het
Dnah11	T	A	12: 118,027,527	D2368V	probably damaging	Het
Ganab	T	C	19: 8,912,864	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,681,839	A11D	unknown	Het
Gmcl1	T	C	6: 86,714,213	M267V	probably benign	Het
Inhbe	T	A	10: 127,350,558	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,396,358	R26Q	probably benign	Het
Lama5	A	G	2: 180,196,478		probably benign	Het
Lin9	T	A	1: 180,667,347	D251E	probably damaging	Het
Magel2	T	A	7: 62,378,596	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,513,283	N772S	probably damaging	Het
Msh3	G	T	13: 92,349,304	Q171K	probably benign	Het
Mslnl	T	G	17: 25,742,532		probably benign	Het
Mtpn	A	G	6: 35,512,241	L116P	possibly damaging	Het
Myh7	T	C	14: 54,975,997	T1351A	probably benign	Het
Nectin3	A	T	16: 46,454,635	I353N	probably damaging	Het
Nprl3	A	T	11: 32,233,948	N500K	probably benign	Het
Nup93	T	A	8: 94,292,720	I181N	probably benign	Het
Olfr1198	T	C	2: 88,746,432	H152R	probably damaging	Het
Olfr362	G	A	2: 37,104,789	T287I	probably damaging	Het
Optc	T	C	1: 133,905,240	I41V	probably benign	Het
Pcdh7	C	A	5: 58,129,321	N1246K	probably benign	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Polr3a	T	C	14: 24,470,831	T587A	probably benign	Het
Pramel1	T	G	4: 143,398,529	L341R	probably damaging	Het
Rhot2	A	T	17: 25,841,766	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,300,485	I12V	probably benign	Het
Spata48	T	A	11: 11,464,678	D141E		Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,437,200	V511A	probably benign	Het
Stfa1	G	A	16: 36,280,568	V57I	unknown	Het
Syne1	T	G	10: 5,262,793	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,626,803	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,400,739	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,294,610		probably null	Het
Ttc16	A	G	2: 32,763,005	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,671	W64R	possibly damaging	Het
Usp34	A	T	11: 23,489,064	H3561L		Het
Vasp	C	T	7: 19,259,451	V276I	unknown	Het
Vwa3a	A	G	7: 120,775,464	N333S	probably benign	Het
Wipf3	A	G	6: 54,483,881	N105D	probably benign	Het
Zfp760	T	C	17: 21,723,682	S613P	possibly damaging	Het

Other mutations in Pcdhb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Pcdhb3	APN	18	37302948	missense	probably benign	0.12
IGL01568:Pcdhb3	APN	18	37302001	missense	possibly damaging	0.74
IGL02541:Pcdhb3	APN	18	37302145	missense	probably damaging	0.99
IGL02852:Pcdhb3	APN	18	37302097	missense	probably damaging	1.00
IGL03140:Pcdhb3	APN	18	37301219	missense	probably benign	0.00
IGL03336:Pcdhb3	APN	18	37302961	missense	possibly damaging	0.86
R0380:Pcdhb3	UTSW	18	37302157	missense	possibly damaging	0.48
R1558:Pcdhb3	UTSW	18	37301581	missense	probably damaging	1.00
R1713:Pcdhb3	UTSW	18	37303322	missense	probably benign
R1728:Pcdhb3	UTSW	18	37301878	missense	probably damaging	1.00
R1784:Pcdhb3	UTSW	18	37301878	missense	probably damaging	1.00
R1838:Pcdhb3	UTSW	18	37301317	missense	probably benign	0.00
R2079:Pcdhb3	UTSW	18	37303309	missense	possibly damaging	0.93
R2164:Pcdhb3	UTSW	18	37302186	missense	possibly damaging	0.78
R2513:Pcdhb3	UTSW	18	37301239	nonsense	probably null
R2513:Pcdhb3	UTSW	18	37301240	missense	probably damaging	1.00
R2513:Pcdhb3	UTSW	18	37301241	missense	probably benign	0.17
R3080:Pcdhb3	UTSW	18	37301482	missense	probably damaging	1.00
R3755:Pcdhb3	UTSW	18	37302825	missense	probably damaging	0.97
R3756:Pcdhb3	UTSW	18	37302825	missense	probably damaging	0.97
R3862:Pcdhb3	UTSW	18	37303276	missense	probably damaging	1.00
R3863:Pcdhb3	UTSW	18	37303276	missense	probably damaging	1.00
R3864:Pcdhb3	UTSW	18	37303276	missense	probably damaging	1.00
R4114:Pcdhb3	UTSW	18	37302040	missense	probably benign	0.03
R4895:Pcdhb3	UTSW	18	37301706	missense	probably damaging	1.00
R4917:Pcdhb3	UTSW	18	37302399	missense	probably damaging	0.99
R5508:Pcdhb3	UTSW	18	37301126	missense	probably damaging	1.00
R5779:Pcdhb3	UTSW	18	37301467	missense	probably benign	0.26
R5848:Pcdhb3	UTSW	18	37301647	missense	probably benign	0.39
R5991:Pcdhb3	UTSW	18	37301508	missense	probably benign	0.07
R6014:Pcdhb3	UTSW	18	37302653	missense	probably damaging	1.00
R6111:Pcdhb3	UTSW	18	37302189	missense	probably benign	0.00
R6282:Pcdhb3	UTSW	18	37301646	missense	probably damaging	1.00
R6339:Pcdhb3	UTSW	18	37300945	intron	probably benign
R6425:Pcdhb3	UTSW	18	37302475	missense	possibly damaging	0.64
R6860:Pcdhb3	UTSW	18	37301710	missense	probably benign	0.01
R6896:Pcdhb3	UTSW	18	37301212	missense	probably damaging	1.00
R6946:Pcdhb3	UTSW	18	37302619	missense	probably damaging	1.00
R7110:Pcdhb3	UTSW	18	37302922	missense	possibly damaging	0.87
R7236:Pcdhb3	UTSW	18	37301452	missense	probably damaging	1.00
R7402:Pcdhb3	UTSW	18	37301604	missense	probably benign
R7469:Pcdhb3	UTSW	18	37301335	missense	probably benign	0.02
R7723:Pcdhb3	UTSW	18	37302512	missense	probably damaging	0.98
R7738:Pcdhb3	UTSW	18	37302959	missense	probably benign	0.00
R7800:Pcdhb3	UTSW	18	37301921	missense	probably benign	0.00
R7817:Pcdhb3	UTSW	18	37302929	missense	probably benign
R8157:Pcdhb3	UTSW	18	37303239	missense	probably damaging	1.00
R9482:Pcdhb3	UTSW	18	37301683	missense	probably damaging	1.00
R9488:Pcdhb3	UTSW	18	37302363	missense	possibly damaging	0.62
X0026:Pcdhb3	UTSW	18	37301764	missense	probably damaging	0.96
X0066:Pcdhb3	UTSW	18	37302339	nonsense	probably null
Z1177:Pcdhb3	UTSW	18	37302036	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATACTTATGAGGTTGACATAGAGGCC -3'
(R):5'- CGTTGAGGTCAGACACTTGC -3'

Sequencing Primer
(F):5'- CAAGGATGGTGGAGGCCTTTC -3'
(R):5'- CAGACACTTGCACTGTTATGG -3'

Posted On

2022-03-25