Mutagenetix > Incidental Mutation

Incidental Mutation 'R2207:Pcdhb15'

239195

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb15

Ensembl Gene

ENSMUSG00000047033

Gene Name

protocadherin beta 15

Synonyms

Pcdhb7, PcdhbO

MMRRC Submission

040209-MU

Accession Numbers

Essential gene?

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

Stock #

R2207 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37606599-37609393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37608075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 436 (T436S)

Ref Sequence

ENSEMBL: ENSMUSP00000059598 (fasta)

Gene Model

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

AlphaFold

Q91Y04

Predicted Effect

probably benign
Transcript: ENSMUST00000050034
AA Change: T436S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: T436S

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

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,965 (GRCm39)		probably benign	Het
Abcb1b	C	T	5: 8,874,803 (GRCm39)	R488C	probably benign	Het
Adam34	T	C	8: 44,105,274 (GRCm39)	I124V	probably benign	Het
Aicda	T	A	6: 122,538,244 (GRCm39)	V134D	possibly damaging	Het
Akt2	T	A	7: 27,336,625 (GRCm39)		probably null	Het
Aldh1a3	T	C	7: 66,055,769 (GRCm39)	R341G	probably damaging	Het
Ankrd12	G	T	17: 66,338,569 (GRCm39)		probably null	Het
Anxa11	A	G	14: 25,874,721 (GRCm39)	Y244C	probably damaging	Het
Atp2c2	G	A	8: 120,475,048 (GRCm39)	R551Q	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bcl11a	G	T	11: 24,113,343 (GRCm39)	G229W	probably damaging	Het
Brip1	A	G	11: 85,952,703 (GRCm39)	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,603,987 (GRCm39)	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133 (GRCm39)	Y109C	probably damaging	Het
Ccdc39	T	C	3: 33,890,882 (GRCm39)	I241V	probably damaging	Het
Ccdc9	A	G	7: 16,018,194 (GRCm39)		probably benign	Het
Cdk17	G	A	10: 93,064,624 (GRCm39)	D298N	probably damaging	Het
Cdkl3	A	G	11: 51,918,020 (GRCm39)	*354W	probably null	Het
Celf6	A	T	9: 59,511,610 (GRCm39)	Y401F	possibly damaging	Het
Clec4a4	C	T	6: 122,990,766 (GRCm39)	L169F	probably damaging	Het
Col14a1	T	C	15: 55,327,082 (GRCm39)	F1411L	unknown	Het
Col4a2	G	T	8: 11,493,352 (GRCm39)	G1354W	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cst13	A	T	2: 148,665,202 (GRCm39)	R66W	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dhx8	A	G	11: 101,641,797 (GRCm39)	T632A	probably benign	Het
Disp1	A	G	1: 182,869,906 (GRCm39)	F838S	possibly damaging	Het
Dlg1	A	G	16: 31,672,664 (GRCm39)	H599R	probably benign	Het
Dnah12	T	A	14: 26,503,744 (GRCm39)	V1654E	probably damaging	Het
Dnah5	C	T	15: 28,343,817 (GRCm39)	L2406F	probably benign	Het
Fam98b	C	G	2: 117,098,300 (GRCm39)	R257G	probably damaging	Het
Fbn2	A	T	18: 58,214,471 (GRCm39)	C900*	probably null	Het
Fgf1	A	G	18: 38,980,138 (GRCm39)	Y79H	possibly damaging	Het
Foxn1	C	A	11: 78,249,630 (GRCm39)	A632S	probably benign	Het
Fsip2	T	G	2: 82,807,823 (GRCm39)	S1381A	probably benign	Het
Gtf2b	G	A	3: 142,484,081 (GRCm39)	G85D	probably benign	Het
Gyg1	C	A	3: 20,204,703 (GRCm39)	G161C	probably damaging	Het
Hemgn	G	T	4: 46,396,301 (GRCm39)	L312I	possibly damaging	Het
Hic2	T	C	16: 17,075,324 (GRCm39)	M51T	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hpx	C	T	7: 105,241,633 (GRCm39)	R287H	probably damaging	Het
Igf2bp3	C	T	6: 49,065,488 (GRCm39)	G468E	possibly damaging	Het
Il5ra	C	A	6: 106,689,402 (GRCm39)	E397*	probably null	Het
Itfg1	A	T	8: 86,502,827 (GRCm39)	S246R	probably benign	Het
Kdm2a	A	T	19: 4,412,898 (GRCm39)	D29E	probably damaging	Het
Lamc2	T	G	1: 153,009,452 (GRCm39)	E784D	possibly damaging	Het
Lrp2	A	T	2: 69,297,372 (GRCm39)	N3196K	possibly damaging	Het
Lyzl1	T	A	18: 4,181,962 (GRCm39)	C96*	probably null	Het
Maf1	A	G	15: 76,236,718 (GRCm39)	T17A	probably benign	Het
Map1b	T	C	13: 99,567,591 (GRCm39)	D1710G	unknown	Het
Megf8	C	T	7: 25,049,222 (GRCm39)	T1773I	probably damaging	Het
Mei1	T	C	15: 81,987,450 (GRCm39)	M414T	probably benign	Het
Myo15a	A	G	11: 60,396,860 (GRCm39)	N2643S	probably benign	Het
Ndufa9	A	G	6: 126,821,772 (GRCm39)	Y64H	probably damaging	Het
Neb	A	T	2: 52,101,579 (GRCm39)	L4354*	probably null	Het
Nom1	T	A	5: 29,644,972 (GRCm39)	I480N	probably damaging	Het
Nrxn3	C	T	12: 89,315,082 (GRCm39)	T331M	probably damaging	Het
Or1a1	G	T	11: 74,087,150 (GRCm39)	V274L	possibly damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or4f14b	A	C	2: 111,775,270 (GRCm39)	F177C	probably damaging	Het
Or51a42	A	G	7: 103,708,612 (GRCm39)	S66P	probably damaging	Het
Pcdhb18	T	A	18: 37,624,342 (GRCm39)	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,468,633 (GRCm39)	M518T	probably benign	Het
Pgm2l1	T	A	7: 99,917,319 (GRCm39)		probably null	Het
Pih1d2	C	A	9: 50,532,379 (GRCm39)	H162N	probably benign	Het
Pitrm1	T	A	13: 6,619,327 (GRCm39)	Y721N	probably damaging	Het
Pla2r1	C	A	2: 60,288,779 (GRCm39)	V618F	probably damaging	Het
Plb1	T	C	5: 32,473,984 (GRCm39)	S599P	possibly damaging	Het
Prkg1	T	C	19: 30,556,260 (GRCm39)	D562G	probably damaging	Het
Proser1	T	G	3: 53,385,812 (GRCm39)	S565A	probably benign	Het
Prx	T	A	7: 27,216,213 (GRCm39)	V238E	probably damaging	Het
Psapl1	T	C	5: 36,362,509 (GRCm39)	I367T	probably damaging	Het
Rc3h1	T	C	1: 160,767,595 (GRCm39)	V128A	probably damaging	Het
Rrm1	T	A	7: 102,091,233 (GRCm39)	M1K	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsl1	A	G	13: 67,330,892 (GRCm39)	T447A	probably benign	Het
Ryr2	A	G	13: 11,825,823 (GRCm39)	S552P	probably damaging	Het
Sbf1	A	G	15: 89,190,896 (GRCm39)	S225P	possibly damaging	Het
Serpina3c	T	A	12: 104,117,757 (GRCm39)	I194F	probably benign	Het
Setd3	C	T	12: 108,073,544 (GRCm39)	V578M	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc6a1	T	A	6: 114,285,632 (GRCm39)	V356E	probably damaging	Het
Slfn1	A	G	11: 83,011,992 (GRCm39)	E36G	possibly damaging	Het
Sorcs1	T	C	19: 50,218,655 (GRCm39)	H609R	possibly damaging	Het
Spag16	A	G	1: 70,764,043 (GRCm39)	H621R	probably benign	Het
Spata31d1e	A	G	13: 59,890,920 (GRCm39)	V300A	probably benign	Het
Tg	G	A	15: 66,553,788 (GRCm39)	G401D	probably benign	Het
Tnxb	A	C	17: 34,928,391 (GRCm39)	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,839,701 (GRCm39)	N1643S	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Ttn	A	T	2: 76,796,155 (GRCm39)	I590K	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Wdr7	T	A	18: 63,910,678 (GRCm39)	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,194,228 (GRCm39)	E36D	possibly damaging	Het
Zfp131	A	T	13: 120,237,348 (GRCm39)	F303I	probably damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp788	A	T	7: 41,299,064 (GRCm39)	I567F	probably damaging	Het
Zfyve26	A	G	12: 79,292,861 (GRCm39)	V2096A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAACCCTGTGCTCCATTGC -3'
(R):5'- ACAGTTGCCCATTGTCTGC -3'

Sequencing Primer
(F):5'- GTGCTCCATTGCGAATGATC -3'
(R):5'- CCCATTGTCTGCATTGATGGAG -3'

Posted On

2014-10-02