Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Pcdhb6'

280697

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb6

Ensembl Gene

ENSMUSG00000051678

Gene Name

protocadherin beta 6

Synonyms

Pcdhb5B, PcdhbF

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

37333921-37337674 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37335820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 598 (N598I)

Ref Sequence

ENSEMBL: ENSMUSP00000058592 (fasta)

Gene Model

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

AlphaFold

Q91XZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061717
AA Change: N598I

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

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678
AA Change: N598I

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	C	7: 28,629,489	T31A	probably benign	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ampd3	T	C	7: 110,802,559	V429A	possibly damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cldn11	C	T	3: 31,150,187	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,662,458		probably null	Het
Copa	T	A	1: 172,112,128	L621H	probably damaging	Het
Dbn1	T	C	13: 55,476,740	D332G	possibly damaging	Het
Drc1	T	C	5: 30,347,104	S197P	probably benign	Het
E2f2	A	G	4: 136,172,848	N23S	probably benign	Het
Epb41l2	T	A	10: 25,460,844	L246H	probably damaging	Het
Fam13b	G	A	18: 34,445,618		probably benign	Het
Fam184b	A	G	5: 45,639,151	M30T	possibly damaging	Het
Fam71d	T	C	12: 78,734,207		probably null	Het
Fn3krp	G	A	11: 121,429,444	R205H	probably benign	Het
Fndc11	A	G	2: 181,221,650	I83V	probably benign	Het
Gm3460	C	T	14: 6,619,542	R150H	probably benign	Het
Hs6st1	T	A	1: 36,103,871	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,318,660	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,779,923	F385L	probably benign	Het
Krt83	A	T	15: 101,487,585	M302K	possibly damaging	Het
Lrrc43	A	T	5: 123,494,279	I162F	probably damaging	Het
Map3k21	A	G	8: 125,926,110	E325G	probably damaging	Het
Mpo	A	T	11: 87,794,795	N33I	probably benign	Het
Mpp4	A	G	1: 59,161,466		probably null	Het
Muc5b	C	T	7: 141,863,757	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,264,272		probably benign	Het
Nostrin	C	T	2: 69,156,109		probably benign	Het
Nphp1	T	C	2: 127,754,049	M498V	probably benign	Het
Nr4a2	A	T	2: 57,111,655	L199Q	possibly damaging	Het
Pex19	T	A	1: 172,134,286	M207K	probably damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Plekha2	T	C	8: 25,042,729	K409E	probably damaging	Het
Plxna2	T	C	1: 194,794,383	L1169P	probably damaging	Het
Pmpcb	A	G	5: 21,743,375		probably benign	Het
Ptrh1	T	C	2: 32,776,814		probably benign	Het
Rc3h2	T	C	2: 37,398,253	E439G	probably damaging	Het
Ric1	C	T	19: 29,594,800	A665V	probably benign	Het
Stx18	T	A	5: 38,128,103	V219D	probably damaging	Het
Taf7	A	T	18: 37,642,480		probably benign	Het
Tbc1d8	A	G	1: 39,376,907	I895T	possibly damaging	Het
Tbc1d8	A	G	1: 39,380,236	S766P	probably damaging	Het
Tekt3	C	A	11: 63,083,940	H362N	probably benign	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Tmem94	T	C	11: 115,787,538	S196P	possibly damaging	Het
Vmn2r14	T	C	5: 109,220,067	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,733,482	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,080,679	C648S	probably damaging	Het
Zfpm2	G	A	15: 41,102,195	C560Y	probably damaging	Het

Other mutations in Pcdhb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Pcdhb6	APN	18	37334224	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
R8917:Pcdhb6	UTSW	18	37335378	missense	possibly damaging	0.92
R9397:Pcdhb6	UTSW	18	37336300	missense	probably benign	0.00
Z1088:Pcdhb6	UTSW	18	37335146	missense	probably damaging	1.00

Posted On

2015-04-16