Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00530:Pcdhb15'

3348

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb15

Ensembl Gene

ENSMUSG00000047033

Gene Name

protocadherin beta 15

Synonyms

Pcdhb7, PcdhbO

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL00530

Quality Score

Status

Chromosome

Chromosomal Location

37606599-37609393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37608207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 480 (S480P)

Ref Sequence

ENSEMBL: ENSMUSP00000059598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y04

Predicted Effect

probably damaging
Transcript: ENSMUST00000050034
AA Change: S480P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: S480P

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.6e-33	PFAM
CA	155	240	7.79e-22	SMART
CA	264	345	4.37e-25	SMART
CA	368	449	4.4e-21	SMART
CA	473	559	7.38e-23	SMART
CA	589	670	4.48e-13	SMART
Pfam:Cadherin_C_2	686	770	5.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051442

SMART Domains

Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	46	132	7.7e-1	SMART
CA	156	241	1.93e-17	SMART
CA	265	346	4.2e-27	SMART
CA	369	450	1.08e-24	SMART
CA	474	560	3.31e-25	SMART
CA	590	671	2.87e-11	SMART
Pfam:Cadherin_C_2	687	770	4.1e-27	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

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. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Champ1	C	T	8: 13,929,522 (GRCm39)	S560L	possibly damaging	Het
Hecw2	C	T	1: 53,892,439 (GRCm39)	R1186H	probably damaging	Het
Hivep1	T	C	13: 42,308,125 (GRCm39)	S122P	probably benign	Het
Prdm2	G	T	4: 142,860,329 (GRCm39)	P987H	probably damaging	Het
Tada2b	A	T	5: 36,633,417 (GRCm39)	I312N	probably damaging	Het
Utp20	T	C	10: 88,661,306 (GRCm39)	I34V	possibly damaging	Het
Zfp616	A	T	11: 73,974,439 (GRCm39)	D236V	probably damaging	Het
Zhx3	T	A	2: 160,622,761 (GRCm39)	N469Y	probably damaging	Het

Other mutations in Pcdhb15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Pcdhb15	APN	18	37,608,046 (GRCm39)	missense	probably benign	0.01
IGL01664:Pcdhb15	APN	18	37,607,314 (GRCm39)	missense	probably benign	0.35
IGL02001:Pcdhb15	APN	18	37,607,091 (GRCm39)	missense	probably benign	0.01
IGL02161:Pcdhb15	APN	18	37,608,555 (GRCm39)	missense	possibly damaging	0.78
IGL02205:Pcdhb15	APN	18	37,607,010 (GRCm39)	missense	probably damaging	0.99
IGL02748:Pcdhb15	APN	18	37,608,273 (GRCm39)	missense	probably damaging	0.98
IGL02828:Pcdhb15	APN	18	37,606,903 (GRCm39)	missense	probably damaging	0.97
IGL02974:Pcdhb15	APN	18	37,608,067 (GRCm39)	missense	probably damaging	1.00
IGL03119:Pcdhb15	APN	18	37,608,067 (GRCm39)	missense	probably damaging	1.00
IGL03136:Pcdhb15	APN	18	37,608,067 (GRCm39)	missense	probably damaging	1.00
IGL03150:Pcdhb15	APN	18	37,608,067 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Pcdhb15	UTSW	18	37,608,724 (GRCm39)	missense	probably benign	0.15
R0266:Pcdhb15	UTSW	18	37,608,329 (GRCm39)	missense	probably damaging	1.00
R0288:Pcdhb15	UTSW	18	37,608,451 (GRCm39)	missense	probably damaging	1.00
R0399:Pcdhb15	UTSW	18	37,607,221 (GRCm39)	missense	possibly damaging	0.56
R0400:Pcdhb15	UTSW	18	37,608,948 (GRCm39)	missense	probably benign
R0554:Pcdhb15	UTSW	18	37,607,572 (GRCm39)	missense	probably damaging	1.00
R0637:Pcdhb15	UTSW	18	37,608,619 (GRCm39)	missense	probably damaging	1.00
R0714:Pcdhb15	UTSW	18	37,607,674 (GRCm39)	missense	probably damaging	0.98
R1118:Pcdhb15	UTSW	18	37,606,815 (GRCm39)	missense	probably benign	0.01
R1423:Pcdhb15	UTSW	18	37,606,975 (GRCm39)	missense	probably damaging	0.97
R1672:Pcdhb15	UTSW	18	37,607,713 (GRCm39)	missense	probably damaging	1.00
R1681:Pcdhb15	UTSW	18	37,606,866 (GRCm39)	missense	probably damaging	1.00
R1779:Pcdhb15	UTSW	18	37,609,084 (GRCm39)	missense	possibly damaging	0.95
R2206:Pcdhb15	UTSW	18	37,608,075 (GRCm39)	missense	probably benign	0.05
R2207:Pcdhb15	UTSW	18	37,608,075 (GRCm39)	missense	probably benign	0.05
R2274:Pcdhb15	UTSW	18	37,608,496 (GRCm39)	missense	probably damaging	1.00
R3406:Pcdhb15	UTSW	18	37,608,442 (GRCm39)	missense	probably benign	0.41
R3407:Pcdhb15	UTSW	18	37,607,442 (GRCm39)	missense	possibly damaging	0.80
R3417:Pcdhb15	UTSW	18	37,608,216 (GRCm39)	missense	probably damaging	1.00
R3752:Pcdhb15	UTSW	18	37,606,810 (GRCm39)	missense	probably damaging	1.00
R3773:Pcdhb15	UTSW	18	37,608,943 (GRCm39)	missense	probably benign	0.00
R4432:Pcdhb15	UTSW	18	37,608,565 (GRCm39)	missense	probably damaging	1.00
R4433:Pcdhb15	UTSW	18	37,608,565 (GRCm39)	missense	probably damaging	1.00
R4583:Pcdhb15	UTSW	18	37,608,628 (GRCm39)	missense	possibly damaging	0.91
R4612:Pcdhb15	UTSW	18	37,608,648 (GRCm39)	missense	probably damaging	0.96
R4988:Pcdhb15	UTSW	18	37,608,855 (GRCm39)	missense	probably damaging	0.98
R5635:Pcdhb15	UTSW	18	37,606,823 (GRCm39)	nonsense	probably null
R5692:Pcdhb15	UTSW	18	37,607,502 (GRCm39)	missense	probably benign	0.01
R5742:Pcdhb15	UTSW	18	37,607,820 (GRCm39)	missense	probably damaging	0.99
R5913:Pcdhb15	UTSW	18	37,607,707 (GRCm39)	missense	probably benign	0.07
R6350:Pcdhb15	UTSW	18	37,608,414 (GRCm39)	missense	probably damaging	1.00
R6522:Pcdhb15	UTSW	18	37,607,314 (GRCm39)	missense	probably benign	0.35
R6676:Pcdhb15	UTSW	18	37,607,860 (GRCm39)	missense	possibly damaging	0.60
R6693:Pcdhb15	UTSW	18	37,607,394 (GRCm39)	missense	probably benign	0.01
R6905:Pcdhb15	UTSW	18	37,607,748 (GRCm39)	missense	possibly damaging	0.95
R7029:Pcdhb15	UTSW	18	37,608,621 (GRCm39)	missense	possibly damaging	0.85
R7335:Pcdhb15	UTSW	18	37,607,389 (GRCm39)	missense	probably damaging	1.00
R7529:Pcdhb15	UTSW	18	37,607,526 (GRCm39)	nonsense	probably null
R7718:Pcdhb15	UTSW	18	37,608,216 (GRCm39)	missense	probably damaging	1.00
R7782:Pcdhb15	UTSW	18	37,607,788 (GRCm39)	missense	possibly damaging	0.88
R7967:Pcdhb15	UTSW	18	37,607,902 (GRCm39)	missense	probably damaging	1.00
R8170:Pcdhb15	UTSW	18	37,608,637 (GRCm39)	missense	probably damaging	1.00
R8323:Pcdhb15	UTSW	18	37,608,715 (GRCm39)	missense	probably benign	0.18
R8725:Pcdhb15	UTSW	18	37,608,734 (GRCm39)	missense	probably damaging	0.99
R8820:Pcdhb15	UTSW	18	37,606,971 (GRCm39)	missense	probably benign	0.03
R9117:Pcdhb15	UTSW	18	37,608,090 (GRCm39)	missense	probably damaging	1.00
R9280:Pcdhb15	UTSW	18	37,607,794 (GRCm39)	missense	probably damaging	1.00
R9367:Pcdhb15	UTSW	18	37,607,971 (GRCm39)	missense	possibly damaging	0.95
R9424:Pcdhb15	UTSW	18	37,607,263 (GRCm39)	missense
R9432:Pcdhb15	UTSW	18	37,608,683 (GRCm39)	missense	probably benign	0.04
R9498:Pcdhb15	UTSW	18	37,606,890 (GRCm39)	nonsense	probably null
R9544:Pcdhb15	UTSW	18	37,608,948 (GRCm39)	missense	probably benign
X0062:Pcdhb15	UTSW	18	37,609,068 (GRCm39)	nonsense	probably null
X0063:Pcdhb15	UTSW	18	37,608,137 (GRCm39)	nonsense	probably null

Posted On

2012-04-20