Mutagenetix > Incidental Mutation

Incidental Mutation 'R7215:Pcdhb20'

561425

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb20

Ensembl Gene

ENSMUSG00000046191

Gene Name

protocadherin beta 20

Synonyms

Pcdhb14, PcdhbT

MMRRC Submission

045287-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37637332-37640713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37638439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 322 (T322S)

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: T322S

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137038
Gene: ENSMUSG00000046191
AA Change: T322S

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	A	13: 77,471,690 (GRCm39)	V1032M	possibly damaging	Het
Abca13	T	A	11: 9,238,405 (GRCm39)		probably null	Het
Adamts14	T	A	10: 61,047,375 (GRCm39)	H739L	possibly damaging	Het
Adgrl3	A	G	5: 81,841,397 (GRCm39)	E758G	probably damaging	Het
Ano3	T	A	2: 110,496,277 (GRCm39)	T826S	probably damaging	Het
Arhgap45	C	T	10: 79,861,316 (GRCm39)	T493I	possibly damaging	Het
Atg9b	A	C	5: 24,593,039 (GRCm39)	W455G	probably damaging	Het
Atp4a	A	G	7: 30,416,785 (GRCm39)	N496S	possibly damaging	Het
Bckdk	T	A	7: 127,504,282 (GRCm39)	D60E	possibly damaging	Het
Blmh	A	T	11: 76,856,725 (GRCm39)	K244*	probably null	Het
Btbd17	T	C	11: 114,682,291 (GRCm39)	I474V	possibly damaging	Het
C87436	A	G	6: 86,439,662 (GRCm39)	E451G	possibly damaging	Het
Camta1	T	C	4: 151,229,194 (GRCm39)	E546G	probably damaging	Het
Casp1	A	G	9: 5,298,523 (GRCm39)		probably null	Het
Ccdc116	A	G	16: 16,957,792 (GRCm39)	Y456H	probably damaging	Het
Cep350	A	C	1: 155,770,453 (GRCm39)	S1812R	possibly damaging	Het
Chrna10	A	G	7: 101,761,415 (GRCm39)	L392P	possibly damaging	Het
Col22a1	A	T	15: 71,842,181 (GRCm39)	C434*	probably null	Het
Cxcl9	G	A	5: 92,471,747 (GRCm39)	Q98*	probably null	Het
Cyp2c54	G	A	19: 40,034,626 (GRCm39)	T348I	probably damaging	Het
Dnah7a	G	A	1: 53,657,509 (GRCm39)	R756C	probably damaging	Het
Dnajc18	T	C	18: 35,815,034 (GRCm39)	T239A	probably benign	Het
Dnase2a	A	T	8: 85,636,399 (GRCm39)		probably null	Het
Dpyd	A	G	3: 119,059,681 (GRCm39)	T793A	probably benign	Het
Edil3	T	C	13: 88,970,169 (GRCm39)		probably null	Het
Ehd1	T	A	19: 6,347,672 (GRCm39)	I342N	possibly damaging	Het
Erbb4	A	T	1: 68,378,619 (GRCm39)	S341T	probably benign	Het
Ezh1	T	A	11: 101,106,125 (GRCm39)	T87S	probably benign	Het
Fam20b	A	T	1: 156,518,123 (GRCm39)	W224R	probably damaging	Het
Galns	A	T	8: 123,326,087 (GRCm39)		probably null	Het
Gm13283	C	T	4: 88,678,967 (GRCm39)		probably benign	Het
Gm49342	A	T	14: 51,182,040 (GRCm39)	M23L	probably benign	Het
Gm5114	T	A	7: 39,060,795 (GRCm39)	H18L	probably benign	Het
Gpr89	A	G	3: 96,787,404 (GRCm39)	W299R	probably damaging	Het
Hadha	G	T	5: 30,324,840 (GRCm39)	N755K	probably benign	Het
Inpp5d	A	T	1: 87,628,940 (GRCm39)	H620L	probably benign	Het
Klk1b3	T	A	7: 43,849,828 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,401,097 (GRCm39)	T663A	probably damaging	Het
Man1b1	A	G	2: 25,240,402 (GRCm39)	N601S	probably benign	Het
Mbtps1	A	G	8: 120,251,307 (GRCm39)	V605A	possibly damaging	Het
Med23	C	G	10: 24,764,327 (GRCm39)	D311E	probably benign	Het
Myo3a	G	T	2: 22,250,378 (GRCm39)	D82Y	possibly damaging	Het
Nsd1	T	A	13: 55,395,454 (GRCm39)	D1121E	probably benign	Het
Odad1	C	T	7: 45,586,046 (GRCm39)	R148C	probably damaging	Het
Or4c116	G	A	2: 88,942,845 (GRCm39)	Q4*	probably null	Het
Or5al1	C	T	2: 85,989,800 (GRCm39)	V305I	probably benign	Het
Or8b3b	A	G	9: 38,584,743 (GRCm39)	I12T	probably benign	Het
Otoa	T	C	7: 120,717,795 (GRCm39)	V19A	unknown	Het
Pecam1	T	C	11: 106,586,745 (GRCm39)	T257A	probably benign	Het
Pi16	G	T	17: 29,538,072 (GRCm39)		probably benign	Het
Pik3c2g	C	T	6: 139,700,589 (GRCm39)	T293M		Het
Pira13	C	T	7: 3,825,310 (GRCm39)	C444Y	unknown	Het
Pkhd1l1	T	A	15: 44,391,559 (GRCm39)	C1542S	possibly damaging	Het
Prrc2b	G	A	2: 32,119,309 (GRCm39)	G2172R	probably damaging	Het
Prrt1	A	T	17: 34,848,677 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,174,681 (GRCm39)	N784K	possibly damaging	Het
Rem1	C	A	2: 152,470,069 (GRCm39)	S18R	probably damaging	Het
Ripk4	G	A	16: 97,548,523 (GRCm39)		probably null	Het
Scn8a	G	A	15: 100,927,711 (GRCm39)	V1397I	possibly damaging	Het
Setbp1	T	A	18: 78,900,052 (GRCm39)	H1205L	probably damaging	Het
Shmt1	T	C	11: 60,692,361 (GRCm39)	I132V	probably damaging	Het
Slc24a1	T	A	9: 64,835,785 (GRCm39)	T781S	unknown	Het
Sncaip	C	T	18: 53,040,415 (GRCm39)	Q870*	probably null	Het
Stab1	A	T	14: 30,882,754 (GRCm39)	N416K	possibly damaging	Het
Tcea1	A	G	1: 4,937,706 (GRCm39)	D26G	probably damaging	Het
Tcf20	A	T	15: 82,737,690 (GRCm39)	S1254T	probably benign	Het
Tead4	T	A	6: 128,205,641 (GRCm39)	I354F	probably damaging	Het
Tex36	G	A	7: 133,189,147 (GRCm39)	R142*	probably null	Het
Trav6d-3	T	A	14: 52,962,799 (GRCm39)	L12Q	probably damaging	Het
Trpc4	A	G	3: 54,102,317 (GRCm39)	T72A	possibly damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Tspoap1	T	A	11: 87,661,315 (GRCm39)	I589N	probably benign	Het
Ttll5	T	A	12: 85,980,170 (GRCm39)	V918E	probably benign	Het
Tut4	T	C	4: 108,384,205 (GRCm39)	Y1091H	probably damaging	Het
Txn2	A	G	15: 77,811,886 (GRCm39)		probably null	Het
Ucn3	T	G	13: 3,991,365 (GRCm39)	T96P	probably benign	Het
Usp36	T	C	11: 118,155,980 (GRCm39)	E764G	possibly damaging	Het
Vmn2r23	A	T	6: 123,681,323 (GRCm39)	H77L	probably benign	Het
Vmn2r57	T	C	7: 41,049,710 (GRCm39)	T680A	probably benign	Het
Vwa3a	T	C	7: 120,394,853 (GRCm39)	I891T	possibly damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zhx2	A	G	15: 57,687,039 (GRCm39)	I803V	probably benign	Het

Other mutations in Pcdhb20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Pcdhb20	APN	18	37,637,738 (GRCm39)	missense	possibly damaging	0.87
IGL01373:Pcdhb20	APN	18	37,639,621 (GRCm39)	missense	probably benign	0.10
IGL01556:Pcdhb20	APN	18	37,637,852 (GRCm39)	missense	possibly damaging	0.88
IGL01621:Pcdhb20	APN	18	37,637,860 (GRCm39)	missense	possibly damaging	0.49
IGL01768:Pcdhb20	APN	18	37,639,768 (GRCm39)	missense	possibly damaging	0.80
IGL01859:Pcdhb20	APN	18	37,637,616 (GRCm39)	missense	probably damaging	0.98
IGL02492:Pcdhb20	APN	18	37,639,453 (GRCm39)	missense	probably benign	0.43
IGL03057:Pcdhb20	APN	18	37,637,851 (GRCm39)	missense	possibly damaging	0.74
IGL02991:Pcdhb20	UTSW	18	37,639,264 (GRCm39)	missense	probably damaging	1.00
R0799:Pcdhb20	UTSW	18	37,638,938 (GRCm39)	missense	probably damaging	1.00
R1465:Pcdhb20	UTSW	18	37,637,750 (GRCm39)	missense	probably damaging	0.99
R1465:Pcdhb20	UTSW	18	37,637,750 (GRCm39)	missense	probably damaging	0.99
R2012:Pcdhb20	UTSW	18	37,638,127 (GRCm39)	missense	probably damaging	0.99
R2079:Pcdhb20	UTSW	18	37,638,224 (GRCm39)	missense	probably benign	0.07
R2350:Pcdhb20	UTSW	18	37,637,563 (GRCm39)	missense	probably benign	0.01
R2363:Pcdhb20	UTSW	18	37,638,725 (GRCm39)	missense	probably damaging	1.00
R2364:Pcdhb20	UTSW	18	37,638,991 (GRCm39)	missense	probably damaging	1.00
R2870:Pcdhb20	UTSW	18	37,638,833 (GRCm39)	missense	possibly damaging	0.82
R2870:Pcdhb20	UTSW	18	37,638,833 (GRCm39)	missense	possibly damaging	0.82
R4060:Pcdhb20	UTSW	18	37,639,217 (GRCm39)	missense	probably damaging	1.00
R4609:Pcdhb20	UTSW	18	37,638,849 (GRCm39)	missense	probably benign	0.02
R4750:Pcdhb20	UTSW	18	37,639,184 (GRCm39)	missense	possibly damaging	0.48
R4897:Pcdhb20	UTSW	18	37,639,298 (GRCm39)	missense	possibly damaging	0.70
R4970:Pcdhb20	UTSW	18	37,639,824 (GRCm39)	missense	probably benign	0.00
R5098:Pcdhb20	UTSW	18	37,637,858 (GRCm39)	missense	probably damaging	1.00
R5616:Pcdhb20	UTSW	18	37,637,585 (GRCm39)	missense	probably damaging	0.97
R5890:Pcdhb20	UTSW	18	37,638,286 (GRCm39)	missense	probably benign	0.00
R6225:Pcdhb20	UTSW	18	37,638,047 (GRCm39)	missense	probably damaging	1.00
R6248:Pcdhb20	UTSW	18	37,639,285 (GRCm39)	missense	probably damaging	0.99
R6419:Pcdhb20	UTSW	18	37,638,608 (GRCm39)	missense	probably damaging	1.00
R6814:Pcdhb20	UTSW	18	37,639,218 (GRCm39)	missense	probably benign	0.22
R6821:Pcdhb20	UTSW	18	37,639,175 (GRCm39)	missense	probably damaging	1.00
R6824:Pcdhb20	UTSW	18	37,638,752 (GRCm39)	missense	probably benign	0.06
R6872:Pcdhb20	UTSW	18	37,639,218 (GRCm39)	missense	probably benign	0.22
R7040:Pcdhb20	UTSW	18	37,637,770 (GRCm39)	missense	probably benign	0.00
R7145:Pcdhb20	UTSW	18	37,638,142 (GRCm39)	missense	probably damaging	1.00
R7165:Pcdhb20	UTSW	18	37,638,123 (GRCm39)	missense	probably damaging	1.00
R7265:Pcdhb20	UTSW	18	37,638,616 (GRCm39)	missense	possibly damaging	0.95
R7372:Pcdhb20	UTSW	18	37,639,840 (GRCm39)	missense	probably benign	0.00
R7402:Pcdhb20	UTSW	18	37,638,005 (GRCm39)	missense	probably benign	0.05
R7718:Pcdhb20	UTSW	18	37,638,704 (GRCm39)	missense	probably damaging	1.00
R7794:Pcdhb20	UTSW	18	37,637,485 (GRCm39)	missense	probably benign	0.00
R7842:Pcdhb20	UTSW	18	37,638,112 (GRCm39)	missense	possibly damaging	0.94
R8084:Pcdhb20	UTSW	18	37,639,226 (GRCm39)	missense	possibly damaging	0.95
R8133:Pcdhb20	UTSW	18	37,639,663 (GRCm39)	nonsense	probably null
R8422:Pcdhb20	UTSW	18	37,637,849 (GRCm39)	missense	probably damaging	1.00
R8477:Pcdhb20	UTSW	18	37,638,307 (GRCm39)	missense	probably benign	0.12
R8727:Pcdhb20	UTSW	18	37,638,437 (GRCm39)	missense	probably damaging	1.00
R8733:Pcdhb20	UTSW	18	37,638,437 (GRCm39)	missense	probably damaging	1.00
R8951:Pcdhb20	UTSW	18	37,639,146 (GRCm39)	missense	probably damaging	1.00
R9196:Pcdhb20	UTSW	18	37,638,024 (GRCm39)	missense	probably benign	0.00
R9384:Pcdhb20	UTSW	18	37,638,024 (GRCm39)	missense	probably benign	0.00
R9388:Pcdhb20	UTSW	18	37,638,853 (GRCm39)	missense	probably benign	0.02
R9462:Pcdhb20	UTSW	18	37,639,799 (GRCm39)	missense	probably benign	0.30
R9667:Pcdhb20	UTSW	18	37,637,839 (GRCm39)	missense	probably benign	0.00
Z1177:Pcdhb20	UTSW	18	37,637,641 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGTTTCTATGAGGTGCAGGTCC -3'
(R):5'- TGTCTCCAGAGTCTTGATCTCG -3'

Sequencing Primer
(F):5'- CAGTATTACTGCCATCTCTGCTAAAG -3'
(R):5'- CTTGATCTCGGACACTGAATAGAGC -3'

Posted On

2019-06-26