Mutagenetix > Incidental Mutations

Incidental Mutation 'R5281:Pcdhb21'

402798

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb21

Ensembl Gene

ENSMUSG00000044022

Gene Name

protocadherin beta 21

Synonyms

Pcdhb18, PcdhbU

MMRRC Submission

042866-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5281 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37513621-37518325 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37513935 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 39 (M39T)

Ref Sequence

ENSEMBL: ENSMUSP00000056424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061405] [ENSMUST00000097609] [ENSMUST00000115661] [ENSMUST00000192409] [ENSMUST00000194544]

Predicted Effect

probably benign
Transcript: ENSMUST00000061405
AA Change: M39T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022
AA Change: M39T

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Cadherin_2	30	110	4.2e-30	PFAM
CA	153	238	1.8e-17	SMART
CA	262	343	1.54e-25	SMART
CA	367	448	1.03e-21	SMART
CA	472	558	3.41e-27	SMART
CA	588	669	1.54e-11	SMART
Pfam:Cadherin_C_2	686	769	1.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097609

SMART Domains

Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cadherin_2	28	110	5.8e-32	PFAM
CA	153	238	3.99e-19	SMART
CA	262	343	2.18e-25	SMART
CA	366	447	1.53e-20	SMART
CA	471	557	3.6e-26	SMART
CA	587	668	5.35e-11	SMART
Pfam:Cadherin_C_2	685	768	4.5e-28	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: ENSMUST00000192409

SMART Domains

Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cadherin_2	27	110	2.5e-32	PFAM
CA	153	238	3.99e-19	SMART
CA	262	343	2.18e-25	SMART
CA	366	447	1.53e-20	SMART
CA	471	557	3.6e-26	SMART
CA	587	668	5.35e-11	SMART
transmembrane domain	689	711	N/A	INTRINSIC

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: 98.6%
10x: 97.3%
20x: 95.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	G	7: 82,528,934	H535R	probably damaging	Het
Aff4	A	G	11: 53,372,288	E45G	probably damaging	Het
Ano10	A	G	9: 122,261,486	S254P	probably damaging	Het
Arhgap21	T	A	2: 20,849,316	E1745V	probably damaging	Het
Atp10b	T	C	11: 43,254,336	L1302P	probably damaging	Het
Btn2a2	A	G	13: 23,478,832	V316A	probably damaging	Het
C2cd4c	G	A	10: 79,613,044	P90S	probably benign	Het
Cant1	A	T	11: 118,408,870	W255R	probably damaging	Het
Cenpe	A	C	3: 135,230,150	K449Q	possibly damaging	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Dmbt1	T	C	7: 131,082,619	V615A	probably damaging	Het
Dnajc5b	T	C	3: 19,610,560	V174A	probably benign	Het
Dst	C	A	1: 34,257,782	H5751N	probably benign	Het
Eif2d	A	G	1: 131,173,343	E562G	probably damaging	Het
Epha10	A	T	4: 124,913,988		probably benign	Het
Epha4	C	T	1: 77,374,867	G917D	probably benign	Het
Fap	C	T	2: 62,532,961		probably null	Het
Fsd2	T	C	7: 81,552,985	E282G	probably benign	Het
Gls	A	T	1: 52,191,157	M136K	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gusb	T	C	5: 129,998,526	T313A	probably benign	Het
Ints7	T	C	1: 191,615,771	Y752H	possibly damaging	Het
Krt17	G	A	11: 100,260,701	Q89*	probably null	Het
Mfsd4b4	T	C	10: 39,892,471	I209V	probably benign	Het
Nr0b2	A	G	4: 133,556,024	I191V	probably benign	Het
Olfr609	T	C	7: 103,491,973	I302V	probably benign	Het
Pds5b	T	G	5: 150,746,608	Y354D	probably benign	Het
She	A	G	3: 89,849,581	D314G	probably benign	Het
Shpk	T	C	11: 73,215,120	M266T	probably benign	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slfn4	T	G	11: 83,187,199	V271G	probably damaging	Het
Slitrk6	C	T	14: 110,750,373	R634H	probably damaging	Het
Trrap	T	C	5: 144,813,503	F1555L	probably benign	Het
Vldlr	A	C	19: 27,244,231	E665D	probably benign	Het
Whrn	T	C	4: 63,418,427	T633A	probably benign	Het
Xylt2	A	G	11: 94,668,790	V342A	probably benign	Het
Zfp800	A	T	6: 28,243,166	V600E	probably benign	Het

Other mutations in Pcdhb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Pcdhb21	APN	18	37514553	missense	probably damaging	1.00
IGL01860:Pcdhb21	APN	18	37514905	missense	probably benign	0.00
IGL02139:Pcdhb21	APN	18	37515246	missense	probably damaging	1.00
IGL02370:Pcdhb21	APN	18	37514592	splice site	probably null
IGL03108:Pcdhb21	APN	18	37515891	splice site	probably null
IGL03265:Pcdhb21	APN	18	37515153	missense	probably damaging	1.00
R0454:Pcdhb21	UTSW	18	37514513	missense	probably damaging	1.00
R0519:Pcdhb21	UTSW	18	37516032	missense	possibly damaging	0.95
R0647:Pcdhb21	UTSW	18	37513860	missense	probably damaging	0.99
R0689:Pcdhb21	UTSW	18	37515317	missense	probably benign	0.00
R1607:Pcdhb21	UTSW	18	37515479	missense	probably damaging	1.00
R1649:Pcdhb21	UTSW	18	37515613	missense	probably damaging	1.00
R1777:Pcdhb21	UTSW	18	37515718	missense	possibly damaging	0.80
R1865:Pcdhb21	UTSW	18	37514595	missense	possibly damaging	0.95
R4595:Pcdhb21	UTSW	18	37514515	missense	probably damaging	1.00
R4888:Pcdhb21	UTSW	18	37515077	missense	possibly damaging	0.76
R5396:Pcdhb21	UTSW	18	37515719	missense	probably benign	0.03
R5398:Pcdhb21	UTSW	18	37515719	missense	probably benign	0.03
R5399:Pcdhb21	UTSW	18	37515719	missense	probably benign	0.03
R5635:Pcdhb21	UTSW	18	37513917	missense	probably benign	0.33
R6134:Pcdhb21	UTSW	18	37514408	missense	probably benign	0.03
R6387:Pcdhb21	UTSW	18	37515332	missense	probably benign	0.35
R6595:Pcdhb21	UTSW	18	37515908	missense	probably damaging	1.00
R6750:Pcdhb21	UTSW	18	37514448	missense	probably damaging	1.00
R6754:Pcdhb21	UTSW	18	37514683	missense	probably benign	0.28
R6928:Pcdhb21	UTSW	18	37514421	missense	probably damaging	1.00
R7420:Pcdhb21	UTSW	18	37515203	missense	probably damaging	1.00
R7503:Pcdhb21	UTSW	18	37514975	missense	probably benign	0.07
R8164:Pcdhb21	UTSW	18	37516004	missense	probably benign	0.32
R8219:Pcdhb21	UTSW	18	37514655	missense	probably damaging	1.00
R8271:Pcdhb21	UTSW	18	37515868	missense	probably benign	0.00
R8336:Pcdhb21	UTSW	18	37515889	nonsense	probably null
R8442:Pcdhb21	UTSW	18	37513788	intron	probably benign
R8678:Pcdhb21	UTSW	18	37514886	missense	probably damaging	1.00
Z1088:Pcdhb21	UTSW	18	37514541	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATTCCCAAAGGTCCAGATGAGC -3'
(R):5'- ATGCAATATACAGGGTTCGCTG -3'

Sequencing Primer
(F):5'- ATGAGCGGAACCACTCTCTGAG -3'
(R):5'- TATACAGGGTTCGCTGCTAGAAC -3'

Posted On

2016-07-22