Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Pcdhb20'

266553

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb20

Ensembl Gene

ENSMUSG00000046191

Gene Name

protocadherin beta 20

Synonyms

Pcdhb14, PcdhbT

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

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

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37637332-37640713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37638833 bp (GRCm39)

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
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,599,058 (GRCm39)		silent	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Otx1	A	G	11: 21,948,681 (GRCm39)		probably benign	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Pold1	C	T	7: 44,192,771 (GRCm39)		silent	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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
R7215:Pcdhb20	UTSW	18	37,638,439 (GRCm39)	missense	probably benign	0.24
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'- ACGGAAGGATCCTTTGCTC -3'
(R):5'- CCGTTGTCAGCGTTAATGGAG -3'

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

Posted On

2015-02-18