Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00334:Pcdhb6'

3352

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL00334

Quality Score

Status

Chromosome

Chromosomal Location

37333921-37337674 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37334224 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 66 (I66N)

Ref Sequence

ENSEMBL: ENSMUSP00000058592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544] [ENSMUST00000194655]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061717
AA Change: I66N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: I66N

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.7e-33	PFAM
CA	155	240	1.48e-22	SMART
CA	264	344	3.02e-28	SMART
CA	367	448	1.69e-22	SMART
CA	472	558	1.65e-25	SMART
CA	588	669	6.24e-12	SMART
Pfam:Cadherin_C_2	685	768	4.7e-26	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

Predicted Effect

probably benign
Transcript: ENSMUST00000194655

SMART Domains

Protein: ENSMUSP00000141773
Gene: ENSMUSG00000051678

Domain	Start	End	E-Value	Type
Blast:CA	1	60	2e-11	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,269,574	L620I	possibly damaging	Het
Arsb	T	G	13: 93,939,279	H423Q	probably benign	Het
Ces1f	T	C	8: 93,267,992	T264A	probably benign	Het
Clcn6	C	A	4: 148,017,902		probably null	Het
Cyb5r3	C	A	15: 83,160,404	A138S	probably benign	Het
Cyp3a57	A	T	5: 145,371,024	N197Y	probably damaging	Het
Dctn2	A	G	10: 127,277,690		probably benign	Het
Dnmt1	C	T	9: 20,910,270	A1197T	possibly damaging	Het
Dock2	T	C	11: 34,704,661	D436G	probably damaging	Het
Drd4	A	G	7: 141,292,183	N49S	probably damaging	Het
Dst	T	A	1: 34,166,292	V521D	probably damaging	Het
Eif5b	T	C	1: 38,041,719	S714P	probably damaging	Het
Elmsan1	G	A	12: 84,172,855	R442*	probably null	Het
Glis3	A	G	19: 28,540,264	I178T	probably damaging	Het
Gm11565	T	A	11: 99,915,195	C138S	possibly damaging	Het
H1foo	T	A	6: 115,947,627		probably benign	Het
Hdx	T	A	X: 111,582,881	I623F	probably benign	Het
Huwe1	T	G	X: 151,885,627	L843V	probably damaging	Het
Hyal2	T	C	9: 107,570,405	Y86H	probably damaging	Het
Irf7	A	T	7: 141,264,640	S157T	probably benign	Het
Jmjd4	T	A	11: 59,455,314	M331K	probably damaging	Het
Kdelc2	C	A	9: 53,398,028		probably benign	Het
Kdelc2	T	A	9: 53,398,030		probably benign	Het
Kdm2a	A	T	19: 4,356,898	D112E	possibly damaging	Het
Mamdc2	A	C	19: 23,378,774	Y103*	probably null	Het
Map2k3	T	C	11: 60,943,215	V77A	possibly damaging	Het
Mprip	T	A	11: 59,748,591	D403E	probably benign	Het
Mutyh	T	A	4: 116,819,319	V496D	possibly damaging	Het
Nbeal1	T	C	1: 60,328,103	L2575P	probably damaging	Het
Nbeal1	T	C	1: 60,281,883	V2051A	probably damaging	Het
Olfr16	T	G	1: 172,957,591	S265R	possibly damaging	Het
Olfr575	T	C	7: 102,955,104	K173E	probably benign	Het
Pck2	T	C	14: 55,542,641	Y89H	probably benign	Het
Polr3e	C	T	7: 120,940,811	Q594*	probably null	Het
Ptpro	T	G	6: 137,394,909		probably null	Het
Rfx4	A	G	10: 84,780,053	K28E	possibly damaging	Het
Shox2	T	C	3: 66,981,441	E39G	possibly damaging	Het
Slc22a16	A	T	10: 40,573,934	D122V	probably benign	Het
Smr3a	A	C	5: 88,008,060		probably benign	Het
Taf4	G	T	2: 179,976,625	L8M	unknown	Het
Tbkbp1	T	A	11: 97,137,648		probably benign	Het
Tepp	G	A	8: 95,313,048	R31H	probably damaging	Het
Tmem120b	G	T	5: 123,115,167	E210D	probably damaging	Het
Tmem120b	A	T	5: 123,115,166		probably null	Het
Trim21	C	T	7: 102,559,598	V305M	probably damaging	Het
Ube4a	A	T	9: 44,948,141	L353Q	probably damaging	Het
Zfyve1	A	T	12: 83,574,798	N274K	probably benign	Het

Other mutations in Pcdhb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02123:Pcdhb6	APN	18	37335820	missense	probably damaging	1.00
IGL02491:Pcdhb6	APN	18	37335682	missense	probably damaging	1.00
IGL02496:Pcdhb6	APN	18	37335454	missense	probably damaging	1.00
IGL02608:Pcdhb6	APN	18	37334694	missense	probably damaging	0.99
IGL03130:Pcdhb6	APN	18	37335587	nonsense	probably null
IGL03144:Pcdhb6	APN	18	37334406	missense	probably damaging	1.00
IGL03189:Pcdhb6	APN	18	37336152	missense	probably damaging	0.98
IGL03203:Pcdhb6	APN	18	37334532	missense	possibly damaging	0.95
IGL03388:Pcdhb6	APN	18	37336137	missense	probably damaging	0.99
PIT4445001:Pcdhb6	UTSW	18	37335247	missense	possibly damaging	0.67
R0571:Pcdhb6	UTSW	18	37335114	missense	probably benign	0.01
R0734:Pcdhb6	UTSW	18	37335334	missense	probably damaging	0.99
R1727:Pcdhb6	UTSW	18	37334587	missense	probably damaging	1.00
R2206:Pcdhb6	UTSW	18	37335580	missense	probably benign	0.10
R2207:Pcdhb6	UTSW	18	37335580	missense	probably benign	0.10
R2303:Pcdhb6	UTSW	18	37336231	missense	probably damaging	1.00
R2401:Pcdhb6	UTSW	18	37335169	missense	probably benign	0.35
R3409:Pcdhb6	UTSW	18	37335892	missense	probably damaging	1.00
R3411:Pcdhb6	UTSW	18	37335892	missense	probably damaging	1.00
R3625:Pcdhb6	UTSW	18	37336140	missense	probably damaging	1.00
R3716:Pcdhb6	UTSW	18	37336206	missense	probably benign	0.01
R4745:Pcdhb6	UTSW	18	37335373	missense	possibly damaging	0.86
R4821:Pcdhb6	UTSW	18	37334328	missense	probably damaging	1.00
R5218:Pcdhb6	UTSW	18	37334335	missense	possibly damaging	0.95
R5465:Pcdhb6	UTSW	18	37334730	missense	probably damaging	0.97
R5522:Pcdhb6	UTSW	18	37334349	missense	probably benign
R5556:Pcdhb6	UTSW	18	37334389	missense	probably damaging	1.00
R5703:Pcdhb6	UTSW	18	37334700	missense	probably benign	0.15
R6154:Pcdhb6	UTSW	18	37334913	missense	probably benign	0.00
R6256:Pcdhb6	UTSW	18	37335925	missense	probably damaging	0.98
R6304:Pcdhb6	UTSW	18	37335921	nonsense	probably null
R6528:Pcdhb6	UTSW	18	37334503	missense	probably damaging	1.00
R6883:Pcdhb6	UTSW	18	37335145	missense	probably damaging	1.00
R7045:Pcdhb6	UTSW	18	37336276	missense	possibly damaging	0.88
R7307:Pcdhb6	UTSW	18	37335478	missense	probably benign
R7313:Pcdhb6	UTSW	18	37335208	missense	probably damaging	0.99
R7378:Pcdhb6	UTSW	18	37335172	missense	probably damaging	1.00
R7555:Pcdhb6	UTSW	18	37335279	missense	possibly damaging	0.60
R7606:Pcdhb6	UTSW	18	37335606	missense	probably damaging	0.99
R7701:Pcdhb6	UTSW	18	37334509	missense	probably damaging	1.00
R7830:Pcdhb6	UTSW	18	37336312	missense	probably benign	0.05
R7905:Pcdhb6	UTSW	18	37334554	missense	probably benign	0.00
R7982:Pcdhb6	UTSW	18	37334220	nonsense	probably null
R8818:Pcdhb6	UTSW	18	37335784	missense	probably benign	0.06
Z1088:Pcdhb6	UTSW	18	37335146	missense	probably damaging	1.00

Posted On

2012-04-20