Mutagenetix > Incidental Mutation

Incidental Mutation 'R0698:Pcdhb2'

62934

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb2

Ensembl Gene

ENSMUSG00000051599

Gene Name

protocadherin beta 2

Synonyms

PcdhbB

MMRRC Submission

038882-MU

Accession Numbers

Essential gene?

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

Stock #

R0698 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

37294812-37297624 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37297366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 797 (E797D)

Ref Sequence

ENSEMBL: ENSMUSP00000057921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]

AlphaFold

Q91Y00

Predicted Effect

probably benign
Transcript: ENSMUST00000051754

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

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
AA Change: E797D

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

SMART Domains

Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: E797D

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: ENSMUST00000193137

SMART Domains

Protein: ENSMUSP00000141439
Gene: ENSMUSG00000051599

Domain	Start	End	E-Value	Type
CA	13	94	1.8e-22	SMART

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	C	T	16: 35,290,082	T873M	possibly damaging	Het
Ap4e1	G	A	2: 127,063,363	E985K	probably benign	Het
Arhgap18	T	C	10: 26,912,629	I579T	probably damaging	Het
Arhgef11	G	T	3: 87,733,459	A1308S	probably benign	Het
Arhgef5	A	G	6: 43,273,341	E342G	probably damaging	Het
Atm	T	C	9: 53,515,239	E573G	probably damaging	Het
Baz1b	T	C	5: 135,198,221	V92A	probably damaging	Het
Cmya5	A	G	13: 93,095,557	S1008P	probably damaging	Het
Col6a1	A	G	10: 76,716,280	V459A	unknown	Het
Cpne4	T	C	9: 104,925,795	S213P	probably damaging	Het
Dock10	T	A	1: 80,530,178	Q1672L	probably damaging	Het
Grm8	C	T	6: 27,363,914	C534Y	probably damaging	Het
Ints7	A	G	1: 191,594,464	M183V	probably damaging	Het
Invs	T	G	4: 48,396,364	S346A	probably benign	Het
Krtap9-3	C	A	11: 99,597,837	C73F	probably damaging	Het
Lrrtm4	T	C	6: 80,022,928	L441P	probably damaging	Het
Map4	C	T	9: 110,068,788	R81*	probably null	Het
Med1	A	G	11: 98,155,689		probably benign	Het
Necab1	T	C	4: 15,005,041	N141S	probably benign	Het
Olfr412	A	T	11: 74,365,142	I158F	probably benign	Het
Pclo	T	C	5: 14,712,516	Y3668H	unknown	Het
Peg10	T	A	6: 4,756,835		probably benign	Het
Psd2	A	G	18: 36,012,711	I723V	probably benign	Het
Ptprn2	C	T	12: 116,722,130	R70*	probably null	Het
R3hdm1	A	G	1: 128,181,739	Y309C	probably damaging	Het
Rab13	C	T	3: 90,224,736	T69M	probably damaging	Het
Rpl32	T	C	6: 115,805,590	N126S	probably benign	Het
Sis	C	A	3: 72,910,498	A1461S	probably damaging	Het
Slc2a13	T	C	15: 91,321,667	D439G	probably benign	Het
Spta1	T	C	1: 174,181,104	L258P	probably damaging	Het
Synj1	T	C	16: 90,960,615	T882A	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tada3	A	T	6: 113,367,007	L227Q	probably damaging	Het
Tet2	A	T	3: 133,467,384	S1706T	probably benign	Het
Ttc6	G	A	12: 57,673,216	V858I	probably benign	Het
Vps13c	C	A	9: 67,889,723	A464E	probably benign	Het
Zbtb17	T	C	4: 141,466,096		probably null	Het
Zcchc11	T	A	4: 108,555,533	M1477K	probably benign	Het
Zcwpw1	G	A	5: 137,817,521	E429K	probably benign	Het

Other mutations in Pcdhb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Pcdhb2	APN	18	37296463	splice site	probably null
IGL01538:Pcdhb2	APN	18	37295322	nonsense	probably null
IGL01716:Pcdhb2	APN	18	37296738	missense	probably damaging	0.99
IGL01747:Pcdhb2	APN	18	37296303	missense	probably damaging	1.00
IGL01770:Pcdhb2	APN	18	37296303	missense	probably damaging	1.00
IGL01999:Pcdhb2	APN	18	37296837	missense	probably damaging	1.00
IGL02174:Pcdhb2	APN	18	37296498	missense	probably damaging	1.00
IGL02325:Pcdhb2	APN	18	37296680	missense	possibly damaging	0.91
IGL03148:Pcdhb2	APN	18	37296778	missense	probably damaging	1.00
IGL03263:Pcdhb2	APN	18	37296006	missense	probably damaging	1.00
R0158:Pcdhb2	UTSW	18	37297230	missense	probably damaging	1.00
R0512:Pcdhb2	UTSW	18	37295979	missense	probably damaging	1.00
R0656:Pcdhb2	UTSW	18	37295490	missense	probably damaging	1.00
R0670:Pcdhb2	UTSW	18	37296648	missense	probably damaging	1.00
R0825:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R0827:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R0862:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R0863:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R1344:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R1440:Pcdhb2	UTSW	18	37296290	missense	probably benign	0.22
R1826:Pcdhb2	UTSW	18	37295985	missense	probably damaging	0.99
R1828:Pcdhb2	UTSW	18	37295985	missense	probably damaging	0.99
R1869:Pcdhb2	UTSW	18	37297355	splice site	probably null
R1871:Pcdhb2	UTSW	18	37297355	splice site	probably null
R2292:Pcdhb2	UTSW	18	37297244	splice site	probably null
R3743:Pcdhb2	UTSW	18	37296417	missense	probably damaging	1.00
R4067:Pcdhb2	UTSW	18	37297314	splice site	probably null
R4127:Pcdhb2	UTSW	18	37295541	missense	probably damaging	0.97
R4402:Pcdhb2	UTSW	18	37295402	missense	probably benign	0.05
R4579:Pcdhb2	UTSW	18	37296115	missense	probably damaging	1.00
R4621:Pcdhb2	UTSW	18	37295927	missense	probably benign	0.44
R4678:Pcdhb2	UTSW	18	37296207	missense	probably damaging	1.00
R5143:Pcdhb2	UTSW	18	37296732	missense	probably damaging	1.00
R5152:Pcdhb2	UTSW	18	37296126	missense	probably damaging	0.97
R6552:Pcdhb2	UTSW	18	37295993	missense	probably benign
R6908:Pcdhb2	UTSW	18	37296524	missense	probably damaging	1.00
R6973:Pcdhb2	UTSW	18	37296363	missense	probably benign	0.03
R7143:Pcdhb2	UTSW	18	37295881	missense	probably benign	0.05
R7248:Pcdhb2	UTSW	18	37296494	missense	probably damaging	1.00
R7586:Pcdhb2	UTSW	18	37295804	nonsense	probably null
R7634:Pcdhb2	UTSW	18	37294947	intron	probably benign
R7796:Pcdhb2	UTSW	18	37295393	missense	possibly damaging	0.63
R7862:Pcdhb2	UTSW	18	37296060	missense	probably benign	0.25
R8415:Pcdhb2	UTSW	18	37296057	missense	probably damaging	0.97
R8950:Pcdhb2	UTSW	18	37296662	missense	probably damaging	1.00
R9351:Pcdhb2	UTSW	18	37296316	missense	probably damaging	1.00
R9360:Pcdhb2	UTSW	18	37296498	missense	probably damaging	1.00
R9592:Pcdhb2	UTSW	18	37296213	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGACCCTGTCCCAGAGTTATCAA -3'
(R):5'- CCATCGGCTCACAAGATACAAGTTACAT -3'

Sequencing Primer
(F):5'- CAATATGAAGTGTGCCTGACTG -3'
(R):5'- gccagcaaaatccagccc -3'

Posted On

2013-07-30