Mutagenetix > Incidental Mutations

Incidental Mutation 'R7265:Pcdhb20'

564904

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb20

Ensembl Gene

ENSMUSG00000046191

Gene Name

protocadherin beta 20

Synonyms

PcdhbT, Pcdhb14

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37504264-37507822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37505563 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 381 (I381F)

Ref Sequence

ENSEMBL: ENSMUSP00000137038 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052179
AA Change: I381F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: I381F

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	A	17: 33,066,997	T277I	probably damaging	Het
9330182L06Rik	T	C	5: 9,446,975	V813A	possibly damaging	Het
Asb3	A	G	11: 30,998,495	E57G	probably benign	Het
B3glct	A	G	5: 149,709,320	D45G	probably benign	Het
BC034090	C	A	1: 155,225,327	C397F	probably damaging	Het
Bicd1	A	G	6: 149,513,876	K696E	probably damaging	Het
Btnl4	C	T	17: 34,475,894	C15Y	probably benign	Het
Cabin1	T	C	10: 75,721,423	N300S		Het
Chia1	T	A	3: 106,128,923	L273Q	probably damaging	Het
Coq2	A	G	5: 100,660,270	S222P	possibly damaging	Het
Dgkb	T	C	12: 38,184,932	V432A	possibly damaging	Het
Dpp3	A	G	19: 4,923,769	F92S	probably damaging	Het
Emcn	T	C	3: 137,417,078	S183P	probably damaging	Het
Emcn	T	A	3: 137,419,076	W217R	probably damaging	Het
Enpp2	A	C	15: 54,910,033		probably null	Het
Epb41	T	C	4: 131,967,834	E14G	unknown	Het
Fam160a2	G	T	7: 105,384,225	R609S	probably benign	Het
Grk4	A	G	5: 34,716,264	R225G	probably damaging	Het
Insl6	A	T	19: 29,321,545	W156R	possibly damaging	Het
Ints3	A	T	3: 90,403,983		probably null	Het
Jarid2	G	A	13: 44,902,272	G318D	probably benign	Het
Kif16b	A	T	2: 142,714,730	L596H	probably damaging	Het
Lctl	T	A	9: 64,126,921	Y281N	probably damaging	Het
Letm1	A	T	5: 33,778,648	C34S	possibly damaging	Het
Lrrc32	T	C	7: 98,499,437	S475P	probably damaging	Het
Lrrc37a	T	A	11: 103,498,941	D1886V	probably benign	Het
Macf1	A	T	4: 123,407,877	I944K	probably benign	Het
Mark4	T	C	7: 19,451,725	D28G	probably benign	Het
Mecom	C	A	3: 29,980,133	A465S	possibly damaging	Het
Muc16	A	G	9: 18,656,472	S1584P	unknown	Het
Mycbp2	A	G	14: 103,197,243		probably null	Het
Myo18b	G	A	5: 112,812,072	R1372W	probably damaging	Het
Myo1c	T	C	11: 75,669,790	I706T	possibly damaging	Het
Myo1g	T	C	11: 6,510,933	T704A	possibly damaging	Het
Nwd1	A	G	8: 72,692,928	K914E	probably benign	Het
Olfr1056	C	T	2: 86,355,744	V213I	probably benign	Het
Olfr202	T	A	16: 59,283,924	D191V	probably damaging	Het
Olfr888	A	T	9: 38,108,931	I77L	possibly damaging	Het
Otub2	C	T	12: 103,400,221	S99L	probably damaging	Het
Pak7	G	A	2: 136,101,185	S345L	probably benign	Het
Pcdhga7	A	G	18: 37,716,916	T659A	probably damaging	Het
Pik3c2a	T	A	7: 116,388,086	K533N	probably damaging	Het
Pkd1l1	T	A	11: 8,929,402	Q933L		Het
Ppp4r3a	A	T	12: 101,053,511	M395K	possibly damaging	Het
Pramef6	C	A	4: 143,895,421	V455L	probably benign	Het
Ptpn20	A	G	14: 33,614,524	T107A	probably benign	Het
Scaf8	T	A	17: 3,177,625	D376E	unknown	Het
Scn11a	C	A	9: 119,815,265	C143F	probably damaging	Het
Sctr	G	A	1: 120,022,225	R48Q	probably benign	Het
Sec13	A	T	6: 113,735,136	Y79*	probably null	Het
Sez6	T	A	11: 77,962,865	I287N	probably damaging	Het
Slc52a3	T	A	2: 152,004,416	I99K	possibly damaging	Het
Slco4c1	T	G	1: 96,871,793	H106P	probably damaging	Het
Tada2b	A	G	5: 36,476,608	Y209H	probably damaging	Het
Tas1r2	T	A	4: 139,669,652	D796E	probably benign	Het
Tdrd12	A	T	7: 35,487,722	M581K		Het
Thnsl1	A	G	2: 21,212,458	E341G	probably damaging	Het
Tlk2	C	T	11: 105,184,244	R11*	probably null	Het
Tmco6	T	C	18: 36,739,343		probably null	Het
Trmt44	A	T	5: 35,564,303	H505Q	probably benign	Het
Trpc1	T	C	9: 95,708,275	M710V	probably benign	Het
Ttc21b	T	C	2: 66,210,173	E858G	possibly damaging	Het
Twsg1	C	T	17: 65,929,787	D83N	possibly damaging	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Vmn2r6	T	C	3: 64,556,774	N213S	probably benign	Het
Vmn2r88	G	A	14: 51,418,319	V662I		Het
Zfp414	C	A	17: 33,631,279	D217E	probably benign	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
R2079:Pcdhb20	UTSW	18	37505171	missense	probably benign	0.07
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGGTCTTTCTGCAAAATGC -3'
(R):5'- CACTGATGGTGCCTATGTGC -3'

Sequencing Primer
(F):5'- GCAAAATGCACTCTTTCGGTTAAAG -3'
(R):5'- GGCATTGTCATTGATGTCAGATACC -3'

Posted On

2019-06-26