Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03150:Pcdhb15'

411050

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 #

IGL03150

Quality Score

Status

Chromosome

Chromosomal Location

37606599-37609393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37608067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 433 (T433N)

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: T433N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: T433N

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	C	T	8: 60,996,596 (GRCm39)	S399L	probably damaging	Het
Bltp1	T	C	3: 37,002,215 (GRCm39)	S1387P	probably damaging	Het
Corin	T	C	5: 72,460,201 (GRCm39)	D886G	probably damaging	Het
Cracd	G	A	5: 77,015,097 (GRCm39)	E57K	probably damaging	Het
Eif2ak3	A	T	6: 70,869,420 (GRCm39)	K702N	possibly damaging	Het
Ercc6	G	T	14: 32,280,531 (GRCm39)	M709I	probably damaging	Het
Foxa1	T	A	12: 57,589,082 (GRCm39)	E379D	probably benign	Het
Fscb	C	T	12: 64,519,204 (GRCm39)	G754D	unknown	Het
Gzmb	C	T	14: 56,497,839 (GRCm39)	V134I	probably benign	Het
Iho1	G	T	9: 108,282,155 (GRCm39)	T511K	probably damaging	Het
Muc5b	A	G	7: 141,419,246 (GRCm39)	T4010A	possibly damaging	Het
Necab3	A	G	2: 154,396,662 (GRCm39)	Y55H	probably damaging	Het
Nova1	T	C	12: 46,747,455 (GRCm39)	N274S	possibly damaging	Het
Nup54	C	A	5: 92,576,023 (GRCm39)	G156V	probably damaging	Het
Obscn	A	T	11: 58,942,549 (GRCm39)	C4317S	probably damaging	Het
Papln	T	A	12: 83,829,758 (GRCm39)	W960R	probably damaging	Het
Pax4	C	A	6: 28,444,338 (GRCm39)	G239W	probably null	Het
Ptprj	A	G	2: 90,290,955 (GRCm39)	S502P	probably damaging	Het
Slit3	A	G	11: 35,399,084 (GRCm39)	R150G	possibly damaging	Het
Srgap2	A	T	1: 131,238,338 (GRCm39)	V658E	probably damaging	Het
Taar7e	A	T	10: 23,913,528 (GRCm39)	D6V	probably benign	Het
Trim25	T	C	11: 88,890,831 (GRCm39)	C173R	probably damaging	Het
Trmt1l	T	C	1: 151,329,643 (GRCm39)	S529P	probably benign	Het
Ubn2	C	T	6: 38,440,649 (GRCm39)	P174S	probably benign	Het
Ubox5	A	G	2: 130,442,060 (GRCm39)	V209A	probably benign	Het
Vmn2r72	A	G	7: 85,400,384 (GRCm39)	F222L	probably damaging	Het
Xpot	C	T	10: 121,445,091 (GRCm39)	A374T	probably benign	Het
Zfp451	A	G	1: 33,816,535 (GRCm39)	C472R	probably damaging	Het
Zfp777	A	G	6: 48,021,059 (GRCm39)	W232R	probably damaging	Het

Other mutations in Pcdhb15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Pcdhb15	APN	18	37,608,207 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02