Mutagenetix > Incidental Mutations

Incidental Mutation 'R7335:Pcdhb15'

569460

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb15

Ensembl Gene

ENSMUSG00000047033

Gene Name

protocadherin beta 15

Synonyms

PcdhbO, Pcdhb7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37473540-37476340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37474336 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 207 (E207G)

Ref Sequence

ENSEMBL: ENSMUSP00000059598 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000050034
AA Change: E207G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: E207G

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,602,266	S35G	probably benign	Het
Adcy6	G	T	15: 98,603,876	Q286K	probably benign	Het
Agrn	A	G	4: 156,176,532	S676P	probably damaging	Het
Arntl2	A	G	6: 146,809,719	M74V	probably benign	Het
Arpp21	A	T	9: 112,176,251		probably null	Het
C1rb	A	T	6: 124,575,279	I319F	possibly damaging	Het
C2cd3	T	C	7: 100,422,603	V629A		Het
Cacna1i	T	G	15: 80,375,575	F1287C	probably damaging	Het
Catspere2	A	G	1: 178,098,508	I247V	probably benign	Het
Cd101	C	G	3: 101,018,729	A229P	probably benign	Het
Cdh23	T	C	10: 60,305,116	D3151G	probably damaging	Het
Cenpc1	C	A	5: 86,034,353	K557N	possibly damaging	Het
Col6a4	G	A	9: 106,076,892	T416M	possibly damaging	Het
Cyp2c67	A	T	19: 39,640,007	C164*	probably null	Het
Dopey2	A	G	16: 93,747,508	E179G	probably benign	Het
Duoxa2	A	T	2: 122,301,340	Y170F	possibly damaging	Het
Fras1	A	G	5: 96,736,970	K2569R	possibly damaging	Het
Fsip2	C	A	2: 82,983,118	H3260Q	probably benign	Het
Gm3402	T	C	5: 146,515,233	I121T	probably benign	Het
Herc3	T	A	6: 58,876,788	H606Q	possibly damaging	Het
Hmcn2	T	C	2: 31,392,157	V1927A	possibly damaging	Het
Hnf4g	A	G	3: 3,652,864	H347R	possibly damaging	Het
Hs3st3a1	A	G	11: 64,520,337	T234A	probably benign	Het
Hyal1	G	T	9: 107,579,160	V379L	probably benign	Het
Ighv1-19	A	G	12: 114,708,951		probably benign	Het
Iqcc	T	A	4: 129,616,708	Q338L	not run	Het
Kdm5b	T	C	1: 134,560,439	V34A	probably damaging	Het
Lgals4	T	C	7: 28,841,146	F225L	probably benign	Het
Lmtk3	C	T	7: 45,795,157	T1088I	unknown	Het
Magel2	A	T	7: 62,380,776	S1143C	unknown	Het
Mapk4	A	T	18: 73,937,267	L185Q	possibly damaging	Het
Ncam1	A	G	9: 49,506,911	S1030P		Het
Nynrin	A	T	14: 55,863,914	T347S	probably benign	Het
Pak7	T	C	2: 136,098,299	T532A	probably damaging	Het
Pde6h	T	C	6: 136,963,213	W66R	probably damaging	Het
Pmaip1	T	C	18: 66,458,814		probably null	Het
Prkd3	A	G	17: 78,954,566	F774S	probably damaging	Het
Prox1	T	A	1: 190,161,845	R134S	possibly damaging	Het
Ptpn22	T	A	3: 103,886,019	H495Q	probably damaging	Het
Ptprj	G	T	2: 90,440,782	Q1201K	probably benign	Het
Rp1l1	A	G	14: 64,031,998	S1678G	probably benign	Het
Sez6l	G	T	5: 112,576,812		probably null	Het
Sgcg	T	A	14: 61,240,367	Y91F	probably damaging	Het
Skint2	C	T	4: 112,624,218	L93F	probably damaging	Het
Slc22a22	A	T	15: 57,263,375	D99E	probably benign	Het
Slco3a1	A	G	7: 74,284,342	I694T	probably damaging	Het
Smurf2	A	T	11: 106,846,085	I305N	possibly damaging	Het
Soga1	T	C	2: 157,031,005	Q862R	possibly damaging	Het
Stac3	T	A	10: 127,504,900	V178D	probably benign	Het
Suclg2	T	A	6: 95,566,460	N330I	probably damaging	Het
Suclg2	G	A	6: 95,566,463	A329V	probably damaging	Het
Tas2r118	C	T	6: 23,969,750	C104Y	probably damaging	Het
Tom1l2	T	G	11: 60,245,165	E327D	probably benign	Het
Trit1	T	C	4: 123,016,779	M57T	possibly damaging	Het
Vav1	G	A	17: 57,296,720	S134N	probably benign	Het
Vmn2r82	T	C	10: 79,378,888	L235P	probably damaging	Het
Zfp735	T	A	11: 73,711,553	V441E	possibly damaging	Het

Other mutations in Pcdhb15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Pcdhb15	APN	18	37475154	missense	probably damaging	1.00
IGL01536:Pcdhb15	APN	18	37474993	missense	probably benign	0.01
IGL01664:Pcdhb15	APN	18	37474261	missense	probably benign	0.35
IGL02001:Pcdhb15	APN	18	37474038	missense	probably benign	0.01
IGL02161:Pcdhb15	APN	18	37475502	missense	possibly damaging	0.78
IGL02205:Pcdhb15	APN	18	37473957	missense	probably damaging	0.99
IGL02748:Pcdhb15	APN	18	37475220	missense	probably damaging	0.98
IGL02828:Pcdhb15	APN	18	37473850	missense	probably damaging	0.97
IGL02974:Pcdhb15	APN	18	37475014	missense	probably damaging	1.00
IGL03119:Pcdhb15	APN	18	37475014	missense	probably damaging	1.00
IGL03136:Pcdhb15	APN	18	37475014	missense	probably damaging	1.00
IGL03150:Pcdhb15	APN	18	37475014	missense	probably damaging	1.00
PIT1430001:Pcdhb15	UTSW	18	37475671	missense	probably benign	0.15
R0266:Pcdhb15	UTSW	18	37475276	missense	probably damaging	1.00
R0288:Pcdhb15	UTSW	18	37475398	missense	probably damaging	1.00
R0399:Pcdhb15	UTSW	18	37474168	missense	possibly damaging	0.56
R0400:Pcdhb15	UTSW	18	37475895	missense	probably benign
R0554:Pcdhb15	UTSW	18	37474519	missense	probably damaging	1.00
R0637:Pcdhb15	UTSW	18	37475566	missense	probably damaging	1.00
R0714:Pcdhb15	UTSW	18	37474621	missense	probably damaging	0.98
R1118:Pcdhb15	UTSW	18	37473762	missense	probably benign	0.01
R1423:Pcdhb15	UTSW	18	37473922	missense	probably damaging	0.97
R1672:Pcdhb15	UTSW	18	37474660	missense	probably damaging	1.00
R1681:Pcdhb15	UTSW	18	37473813	missense	probably damaging	1.00
R1779:Pcdhb15	UTSW	18	37476031	missense	possibly damaging	0.95
R2206:Pcdhb15	UTSW	18	37475022	missense	probably benign	0.05
R2207:Pcdhb15	UTSW	18	37475022	missense	probably benign	0.05
R2274:Pcdhb15	UTSW	18	37475443	missense	probably damaging	1.00
R3406:Pcdhb15	UTSW	18	37475389	missense	probably benign	0.41
R3407:Pcdhb15	UTSW	18	37474389	missense	possibly damaging	0.80
R3417:Pcdhb15	UTSW	18	37475163	missense	probably damaging	1.00
R3752:Pcdhb15	UTSW	18	37473757	missense	probably damaging	1.00
R3773:Pcdhb15	UTSW	18	37475890	missense	probably benign	0.00
R4432:Pcdhb15	UTSW	18	37475512	missense	probably damaging	1.00
R4433:Pcdhb15	UTSW	18	37475512	missense	probably damaging	1.00
R4583:Pcdhb15	UTSW	18	37475575	missense	possibly damaging	0.91
R4612:Pcdhb15	UTSW	18	37475595	missense	probably damaging	0.96
R4988:Pcdhb15	UTSW	18	37475802	missense	probably damaging	0.98
R5635:Pcdhb15	UTSW	18	37473770	nonsense	probably null
R5692:Pcdhb15	UTSW	18	37474449	missense	probably benign	0.01
R5742:Pcdhb15	UTSW	18	37474767	missense	probably damaging	0.99
R5913:Pcdhb15	UTSW	18	37474654	missense	probably benign	0.07
R6350:Pcdhb15	UTSW	18	37475361	missense	probably damaging	1.00
R6522:Pcdhb15	UTSW	18	37474261	missense	probably benign	0.35
R6676:Pcdhb15	UTSW	18	37474807	missense	possibly damaging	0.60
R6693:Pcdhb15	UTSW	18	37474341	missense	probably benign	0.01
R6905:Pcdhb15	UTSW	18	37474695	missense	possibly damaging	0.95
R7029:Pcdhb15	UTSW	18	37475568	missense	possibly damaging	0.85
R7529:Pcdhb15	UTSW	18	37474473	nonsense	probably null
R7718:Pcdhb15	UTSW	18	37475163	missense	probably damaging	1.00
R7782:Pcdhb15	UTSW	18	37474735	missense	possibly damaging	0.88
R7967:Pcdhb15	UTSW	18	37474849	missense	probably damaging	1.00
R8170:Pcdhb15	UTSW	18	37475584	missense	probably damaging	1.00
R8323:Pcdhb15	UTSW	18	37475662	missense	probably benign	0.18
X0062:Pcdhb15	UTSW	18	37476015	nonsense	probably null
X0063:Pcdhb15	UTSW	18	37475084	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGCGCTGCACTACATATCAAAG -3'
(R):5'- TCTAAGTCCCTGGCAGACAC -3'

Sequencing Primer
(F):5'- TATCAGAAAGTACCACTCCAGGGG -3'
(R):5'- CTGGCAGACACAGCGAC -3'

Posted On

2019-09-13