Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Pcdhb20'

266553

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb20

Ensembl Gene

ENSMUSG00000046191

Gene Name

protocadherin beta 20

Synonyms

PcdhbT, Pcdhb14

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

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

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37504264-37507822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37505780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 453 (Q453L)

Ref Sequence

ENSEMBL: ENSMUSP00000137038 (fasta)

Gene Model

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

AlphaFold

Q91XZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052179
AA Change: Q453L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: Q453L

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	A	T	10: 22,067,379	I234N	probably benign	Het
Actrt3	A	G	3: 30,599,698	V51A	probably damaging	Het
Adgb	C	T	10: 10,431,281		probably null	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Als2	A	G	1: 59,211,137	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,615,682	R306H	probably damaging	Het
Arhgef10	T	C	8: 14,975,093		probably null	Het
Arhgef10	A	G	8: 14,975,666	I459V	probably benign	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp12a	A	G	14: 56,386,950	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,418,111		noncoding transcript	Het
Cacna2d1	G	A	5: 16,312,568	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,741,861		silent	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Cd6	A	G	19: 10,794,626	I307T	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Csmd3	C	T	15: 47,857,924	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,214,774	S217L	probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Dmp1	A	G	5: 104,212,108	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eral1	A	G	11: 78,076,278	I164T	possibly damaging	Het
Esr1	G	A	10: 4,997,890	R481H	probably damaging	Het
Fam19a2	A	T	10: 123,704,365	H42L	possibly damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Gbp11	C	T	5: 105,331,000	D191N	probably benign	Het
Gm21759	T	A	5: 8,180,863		probably benign	Het
Gm5454	C	A	13: 103,357,523		noncoding transcript	Het
Gm9874	A	T	17: 30,485,789		probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614	N334I	probably damaging	Het
Grm5	T	C	7: 87,602,722	V60A	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ino80d	C	T	1: 63,061,039		probably null	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Krt31	T	G	11: 100,047,873	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,490,212		probably benign	Het
March8	C	T	6: 116,401,145		probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mdm1	A	G	10: 118,150,942	T267A	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mtm1	T	C	X: 71,296,362		probably benign	Homo
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Mylk2	A	G	2: 152,919,348	K457R	probably damaging	Het
Nell1	A	T	7: 50,249,657		probably benign	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Odf3l2	G	A	10: 79,645,653	T14I	probably benign	Het
Olfr1080	T	C	2: 86,553,584	D180G	possibly damaging	Het
Olfr1510	T	G	14: 52,410,861	T4P	probably benign	Het
Olfr801	A	T	10: 129,669,759	C253*	probably null	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Otud4	T	A	8: 79,661,073	N300K	possibly damaging	Het
Otx1	A	G	11: 21,998,681		probably benign	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Plcl1	A	T	1: 55,697,150	D550V	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Pold1	C	T	7: 44,543,347		silent	Het
Ppp1r7	T	A	1: 93,357,863		probably null	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Pzp	A	T	6: 128,485,556		probably null	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Retnla	A	G	16: 48,843,612	R90G	probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Slc5a8	A	G	10: 88,904,963	I247V	probably benign	Het
Son	A	G	16: 91,664,317		probably null	Het
Spcs2	T	C	7: 99,839,761	D240G	probably damaging	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Stx3	A	T	19: 11,789,574	V91D	probably damaging	Het
Taf6l	A	G	19: 8,778,628		probably benign	Het
Tbc1d8	A	G	1: 39,405,317	F187S	probably damaging	Het
Thbs1	C	G	2: 118,119,378	N611K	probably damaging	Het
Tipin	A	C	9: 64,304,327	S232R	probably benign	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	C	T	8: 70,178,915		probably benign	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Ybx3	G	A	6: 131,370,413	A253V	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het
Zzz3	T	A	3: 152,446,844		silent	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
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'- ACGGAAGGATCCTTTGCTC -3'
(R):5'- CCGTTGTCAGCGTTAATGGAG -3'

Sequencing Primer
(F):5'- ACGGAAGGATCCTTTGCTCTATTCAG -3'
(R):5'- TGTCAGCGTTAATGGAGATGAGC -3'

Posted On

2015-02-18