Mutagenetix > Incidental Mutation

Incidental Mutation 'R2079:Pcdhb20'

229390

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb20

Ensembl Gene

ENSMUSG00000046191

Gene Name

protocadherin beta 20

Synonyms

PcdhbT, Pcdhb14

MMRRC Submission

040084-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37504264-37507822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37505171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 250 (Q250R)

Ref Sequence

ENSEMBL: ENSMUSP00000137038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052179] [ENSMUST00000059571] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91XZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000052179
AA Change: Q250R

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: Q250R

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	8.3e-36	PFAM
low complexity region	136	148	N/A	INTRINSIC
CA	155	240	1.41e-19	SMART
CA	264	345	2.91e-21	SMART
CA	368	449	1.12e-22	SMART
CA	473	559	3.41e-27	SMART
CA	589	670	6.34e-13	SMART
Pfam:Cadherin_C_2	686	769	7.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059571

SMART Domains

Protein: ENSMUSP00000053326
Gene: ENSMUSG00000043313

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: 99.2%
3x: 98.6%
10x: 97.4%
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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	T	13: 104,462,238	R862S	probably benign	Het
Aldoa	T	C	7: 126,796,904	D164G	probably null	Het
Ankle2	T	C	5: 110,244,505	V459A	probably damaging	Het
Atp11a	A	G	8: 12,857,902	Y482C	probably damaging	Het
BC035947	A	G	1: 78,511,924		probably benign	Het
Cfap65	G	A	1: 74,917,199	R1074C	probably benign	Het
Ciart	G	T	3: 95,879,038	H242N	probably damaging	Het
Cidec	T	A	6: 113,425,654	M220L	probably benign	Het
Clca1	A	G	3: 145,007,773	I699T	possibly damaging	Het
Csf2rb2	T	C	15: 78,288,007	D401G	probably benign	Het
Cyp2j6	C	A	4: 96,531,725	L256F	possibly damaging	Het
Ddr2	A	T	1: 170,004,776	Y148*	probably null	Het
Depdc5	T	A	5: 32,946,674	I373N	possibly damaging	Het
Dpp10	A	T	1: 123,432,992	M268K	probably damaging	Het
Fam118b	C	A	9: 35,223,664	V216F	possibly damaging	Het
Fam71b	T	G	11: 46,405,107	V102G	probably benign	Het
Fancd2	T	C	6: 113,555,187	V487A	probably damaging	Het
Fhad1	T	A	4: 141,991,202	R147*	probably null	Het
Flt3	A	G	5: 147,355,083	S544P	probably damaging	Het
Frem3	C	A	8: 80,615,103	Q1342K	probably benign	Het
Gimap4	T	C	6: 48,690,947	M84T	possibly damaging	Het
Gm20481	T	C	17: 34,970,220	K569R	probably benign	Het
Gm4871	A	C	5: 145,029,931	D247E	possibly damaging	Het
Gm5141	A	T	13: 62,774,610	N248K	probably benign	Het
Gulo	A	G	14: 65,990,383	Y367H	probably damaging	Het
Hap1	T	C	11: 100,353,746	E120G	probably damaging	Het
Heatr3	T	A	8: 88,141,776	N51K	probably damaging	Het
Hipk2	T	C	6: 38,818,785	D183G	probably damaging	Het
Hnrnpll	T	A	17: 80,035,377	T439S	probably benign	Het
Hoxd3	A	C	2: 74,744,266	E85D	probably damaging	Het
Ipo8	A	T	6: 148,789,162	M694K	probably damaging	Het
Jag2	A	G	12: 112,920,377	I194T	probably damaging	Het
Jrkl	A	T	9: 13,244,859	F266I	probably damaging	Het
Kcnt1	A	G	2: 25,900,248	I436V	possibly damaging	Het
Kdm3b	A	T	18: 34,803,517	D284V	probably damaging	Het
Khdrbs2	A	G	1: 32,467,874	T200A	probably benign	Het
Kmt2c	T	C	5: 25,352,280	D1143G	possibly damaging	Het
Kremen1	G	GGGGT	11: 5,201,794		probably null	Het
Lama2	A	C	10: 27,369,053	I244S	probably damaging	Het
Lama5	G	A	2: 180,225,508	P99S	possibly damaging	Het
Lrrc30	A	T	17: 67,631,880	L235Q	possibly damaging	Het
Man2b2	C	T	5: 36,814,372	V667M	possibly damaging	Het
Mmp2	T	A	8: 92,850,189	N77K	probably damaging	Het
Myo1a	A	G	10: 127,720,613	E1009G	probably benign	Het
Ndst1	A	G	18: 60,695,509	Y658H	probably damaging	Het
Nlrp10	A	G	7: 108,925,628	L215P	possibly damaging	Het
Nrbp1	T	C	5: 31,251,073	F526L	probably benign	Het
Olfr574	T	A	7: 102,949,495	F333L	probably benign	Het
Olfr763	T	C	10: 129,012,029	V248A	probably damaging	Het
Padi2	T	C	4: 140,933,196	L329P	probably damaging	Het
Pcdhb3	T	A	18: 37,303,309	L776Q	possibly damaging	Het
Pik3cb	A	T	9: 99,060,204	M700K	probably benign	Het
Pla2g6	C	T	15: 79,312,994	V127M	probably damaging	Het
Rabgef1	T	C	5: 130,190,935	S80P	probably damaging	Het
Sema3a	C	T	5: 13,451,131	T47I	possibly damaging	Het
Sik2	C	T	9: 50,907,406		probably null	Het
Sin3a	T	C	9: 57,089,523	V112A	probably benign	Het
Slc26a6	G	A	9: 108,859,058	A472T	probably damaging	Het
Syne1	A	G	10: 5,361,502	V561A	probably benign	Het
Syt16	C	T	12: 74,238,299	T422I	probably damaging	Het
Tlr11	A	T	14: 50,360,980	H141L	probably damaging	Het
Tmem252	A	T	19: 24,677,653	E131D	probably benign	Het
Trim55	T	G	3: 19,644,666	L20V	probably damaging	Het
Uqcrfs1	A	T	13: 30,541,308	V83D	probably benign	Het
Utf1	C	T	7: 139,944,895	R309*	probably null	Het
Uxs1	T	C	1: 43,764,973	T261A	probably damaging	Het
Vmn1r24	T	C	6: 57,955,670	I288V	probably benign	Het
Vmn1r80	A	T	7: 12,193,194	D77V	probably damaging	Het
Vmn2r74	T	G	7: 85,957,175	H321P	probably benign	Het
Zfp638	T	C	6: 83,953,389		probably null	Het
Zwilch	T	A	9: 64,153,574	Q332L	probably damaging	Het
Zwilch	G	T	9: 64,153,575	Q332K	probably damaging	Het

Other mutations in Pcdhb20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Pcdhb20	APN	18	37504685	missense	possibly damaging	0.87
IGL01373:Pcdhb20	APN	18	37506568	missense	probably benign	0.10
IGL01556:Pcdhb20	APN	18	37504799	missense	possibly damaging	0.88
IGL01621:Pcdhb20	APN	18	37504807	missense	possibly damaging	0.49
IGL01768:Pcdhb20	APN	18	37506715	missense	possibly damaging	0.80
IGL01859:Pcdhb20	APN	18	37504563	missense	probably damaging	0.98
IGL02492:Pcdhb20	APN	18	37506400	missense	probably benign	0.43
IGL03057:Pcdhb20	APN	18	37504798	missense	possibly damaging	0.74
IGL02991:Pcdhb20	UTSW	18	37506211	missense	probably damaging	1.00
R0799:Pcdhb20	UTSW	18	37505885	missense	probably damaging	1.00
R1465:Pcdhb20	UTSW	18	37504697	missense	probably damaging	0.99
R1465:Pcdhb20	UTSW	18	37504697	missense	probably damaging	0.99
R2012:Pcdhb20	UTSW	18	37505074	missense	probably damaging	0.99
R2350:Pcdhb20	UTSW	18	37504510	missense	probably benign	0.01
R2363:Pcdhb20	UTSW	18	37505672	missense	probably damaging	1.00
R2364:Pcdhb20	UTSW	18	37505938	missense	probably damaging	1.00
R2870:Pcdhb20	UTSW	18	37505780	missense	possibly damaging	0.82
R2870:Pcdhb20	UTSW	18	37505780	missense	possibly damaging	0.82
R4060:Pcdhb20	UTSW	18	37506164	missense	probably damaging	1.00
R4609:Pcdhb20	UTSW	18	37505796	missense	probably benign	0.02
R4750:Pcdhb20	UTSW	18	37506131	missense	possibly damaging	0.48
R4897:Pcdhb20	UTSW	18	37506245	missense	possibly damaging	0.70
R4970:Pcdhb20	UTSW	18	37506771	missense	probably benign	0.00
R5098:Pcdhb20	UTSW	18	37504805	missense	probably damaging	1.00
R5616:Pcdhb20	UTSW	18	37504532	missense	probably damaging	0.97
R5890:Pcdhb20	UTSW	18	37505233	missense	probably benign	0.00
R6225:Pcdhb20	UTSW	18	37504994	missense	probably damaging	1.00
R6248:Pcdhb20	UTSW	18	37506232	missense	probably damaging	0.99
R6419:Pcdhb20	UTSW	18	37505555	missense	probably damaging	1.00
R6814:Pcdhb20	UTSW	18	37506165	missense	probably benign	0.22
R6821:Pcdhb20	UTSW	18	37506122	missense	probably damaging	1.00
R6824:Pcdhb20	UTSW	18	37505699	missense	probably benign	0.06
R6872:Pcdhb20	UTSW	18	37506165	missense	probably benign	0.22
R7040:Pcdhb20	UTSW	18	37504717	missense	probably benign	0.00
R7145:Pcdhb20	UTSW	18	37505089	missense	probably damaging	1.00
R7165:Pcdhb20	UTSW	18	37505070	missense	probably damaging	1.00
R7215:Pcdhb20	UTSW	18	37505386	missense	probably benign	0.24
R7265:Pcdhb20	UTSW	18	37505563	missense	possibly damaging	0.95
R7372:Pcdhb20	UTSW	18	37506787	missense	probably benign	0.00
R7402:Pcdhb20	UTSW	18	37504952	missense	probably benign	0.05
R7718:Pcdhb20	UTSW	18	37505651	missense	probably damaging	1.00
R7794:Pcdhb20	UTSW	18	37504432	missense	probably benign	0.00
R7842:Pcdhb20	UTSW	18	37505059	missense	possibly damaging	0.94
R8084:Pcdhb20	UTSW	18	37506173	missense	possibly damaging	0.95
R8133:Pcdhb20	UTSW	18	37506610	nonsense	probably null
R8422:Pcdhb20	UTSW	18	37504796	missense	probably damaging	1.00
R8477:Pcdhb20	UTSW	18	37505254	missense	probably benign	0.12
R8727:Pcdhb20	UTSW	18	37505384	missense	probably damaging	1.00
R8733:Pcdhb20	UTSW	18	37505384	missense	probably damaging	1.00
R8951:Pcdhb20	UTSW	18	37506093	missense	probably damaging	1.00
R9196:Pcdhb20	UTSW	18	37504971	missense	probably benign	0.00
R9384:Pcdhb20	UTSW	18	37504971	missense	probably benign	0.00
R9388:Pcdhb20	UTSW	18	37505800	missense	probably benign	0.02
R9462:Pcdhb20	UTSW	18	37506746	missense	probably benign	0.30
R9667:Pcdhb20	UTSW	18	37504786	missense	probably benign	0.00
Z1177:Pcdhb20	UTSW	18	37504588	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGCTGGTTCTGGACAAAGC -3'
(R):5'- AAAGACCTCCACCATCTGTTGC -3'

Sequencing Primer
(F):5'- CTGGTTCTGGACAAAGCTTTAGATC -3'
(R):5'- CCATCTGTTGCTTGGATATTTACAG -3'

Posted On

2014-09-17