Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02607:Pcdhb8'

300307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb8

Ensembl Gene

ENSMUSG00000045876

Gene Name

protocadherin beta 8

Synonyms

PcdhbH, Pcdhb5C

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02607

Quality Score

Status

Chromosome

Chromosomal Location

37488324-37490663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37490634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 771 (I771F)

Ref Sequence

ENSEMBL: ENSMUSP00000054371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051163] [ENSMUST00000115661] [ENSMUST00000192867] [ENSMUST00000194544]

AlphaFold

Q91XZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000051163
AA Change: I771F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: I771F

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	6.6e-33	PFAM
CA	155	240	7.79e-22	SMART
CA	264	344	3.02e-28	SMART
CA	367	448	1.14e-23	SMART
CA	472	558	9.51e-26	SMART
CA	588	669	5.65e-10	SMART
Pfam:Cadherin_C_2	685	768	1.1e-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: ENSMUST00000192867

SMART Domains

Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876

Domain	Start	End	E-Value	Type
CA	26	104	7e-18	SMART

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

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,546,679 (GRCm39)	W307*	probably null	Het
Cfap298	G	A	16: 90,726,835 (GRCm39)	T98M	probably damaging	Het
Cit	A	G	5: 115,997,268 (GRCm39)	I84V	probably benign	Het
Cltc	T	C	11: 86,597,540 (GRCm39)	D1132G	probably benign	Het
Cobll1	A	T	2: 64,981,429 (GRCm39)	S54T	probably damaging	Het
Dcstamp	A	G	15: 39,617,980 (GRCm39)	R130G	possibly damaging	Het
Dennd4a	A	G	9: 64,769,609 (GRCm39)	M439V	probably damaging	Het
Dnajc15	T	A	14: 78,077,656 (GRCm39)	I110F	probably damaging	Het
Dock1	T	C	7: 134,453,242 (GRCm39)	F824L	probably benign	Het
Eml2	A	G	7: 18,940,036 (GRCm39)	H617R	probably damaging	Het
Fgd6	A	T	10: 93,880,310 (GRCm39)	Q388L	possibly damaging	Het
Fkbp4	A	T	6: 128,411,433 (GRCm39)		probably benign	Het
Fmnl3	A	T	15: 99,222,653 (GRCm39)	L431Q	probably damaging	Het
Gng8	T	C	7: 16,628,859 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,620,746 (GRCm39)	I1155F	possibly damaging	Het
Muc4	G	T	16: 32,596,193 (GRCm39)	C3135F	possibly damaging	Het
Mycbp2	C	T	14: 103,522,709 (GRCm39)	G685D	probably damaging	Het
Or2y1d	T	C	11: 49,321,339 (GRCm39)	F12S	probably damaging	Het
Pkn2	A	G	3: 142,499,862 (GRCm39)		probably null	Het
Rrn3	G	T	16: 13,624,427 (GRCm39)	V420L	possibly damaging	Het
Samm50	A	T	15: 84,092,039 (GRCm39)	Y338F	probably benign	Het
Slc2a7	C	T	4: 150,239,162 (GRCm39)	T129I	probably benign	Het
Tbc1d8	T	C	1: 39,418,592 (GRCm39)	I806V	probably benign	Het
Tex2	T	C	11: 106,437,573 (GRCm39)	E699G	unknown	Het
Vmn2r85	T	C	10: 130,262,290 (GRCm39)	K150E	possibly damaging	Het

Other mutations in Pcdhb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Pcdhb8	APN	18	37,488,526 (GRCm39)	missense	probably benign	0.00
IGL00574:Pcdhb8	APN	18	37,489,423 (GRCm39)	missense	probably damaging	1.00
IGL00960:Pcdhb8	APN	18	37,489,026 (GRCm39)	missense	probably benign	0.28
IGL01103:Pcdhb8	APN	18	37,490,253 (GRCm39)	missense	probably damaging	1.00
IGL01330:Pcdhb8	APN	18	37,490,631 (GRCm39)	missense	probably benign	0.12
IGL01413:Pcdhb8	APN	18	37,489,029 (GRCm39)	missense	probably damaging	1.00
IGL01418:Pcdhb8	APN	18	37,489,029 (GRCm39)	missense	probably damaging	1.00
IGL01608:Pcdhb8	APN	18	37,489,978 (GRCm39)	missense	probably damaging	1.00
IGL02212:Pcdhb8	APN	18	37,489,465 (GRCm39)	missense	possibly damaging	0.95
IGL02582:Pcdhb8	APN	18	37,488,427 (GRCm39)	missense	possibly damaging	0.79
IGL02882:Pcdhb8	APN	18	37,489,276 (GRCm39)	missense	possibly damaging	0.95
IGL03005:Pcdhb8	APN	18	37,490,587 (GRCm39)	missense	probably damaging	1.00
IGL03108:Pcdhb8	APN	18	37,490,299 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Pcdhb8	UTSW	18	37,489,686 (GRCm39)	missense	probably damaging	1.00
R0104:Pcdhb8	UTSW	18	37,488,718 (GRCm39)	missense	probably benign	0.01
R0490:Pcdhb8	UTSW	18	37,489,833 (GRCm39)	missense	probably damaging	1.00
R0617:Pcdhb8	UTSW	18	37,490,100 (GRCm39)	missense	probably benign	0.02
R1168:Pcdhb8	UTSW	18	37,489,780 (GRCm39)	missense	probably benign
R1189:Pcdhb8	UTSW	18	37,489,620 (GRCm39)	nonsense	probably null
R1232:Pcdhb8	UTSW	18	37,488,828 (GRCm39)	missense	probably benign	0.28
R1503:Pcdhb8	UTSW	18	37,489,572 (GRCm39)	missense	probably damaging	1.00
R1576:Pcdhb8	UTSW	18	37,489,756 (GRCm39)	missense	probably damaging	1.00
R1731:Pcdhb8	UTSW	18	37,488,891 (GRCm39)	missense	probably damaging	1.00
R1908:Pcdhb8	UTSW	18	37,489,015 (GRCm39)	missense	possibly damaging	0.84
R1909:Pcdhb8	UTSW	18	37,489,015 (GRCm39)	missense	possibly damaging	0.84
R2215:Pcdhb8	UTSW	18	37,490,127 (GRCm39)	missense	probably damaging	0.98
R3080:Pcdhb8	UTSW	18	37,489,219 (GRCm39)	missense	probably damaging	1.00
R4394:Pcdhb8	UTSW	18	37,489,935 (GRCm39)	missense	probably damaging	1.00
R4799:Pcdhb8	UTSW	18	37,488,706 (GRCm39)	missense	probably damaging	1.00
R4845:Pcdhb8	UTSW	18	37,489,771 (GRCm39)	missense	probably benign	0.43
R4879:Pcdhb8	UTSW	18	37,489,219 (GRCm39)	missense	probably damaging	1.00
R4941:Pcdhb8	UTSW	18	37,489,059 (GRCm39)	missense	probably benign	0.03
R5086:Pcdhb8	UTSW	18	37,489,159 (GRCm39)	missense	probably damaging	1.00
R5416:Pcdhb8	UTSW	18	37,490,008 (GRCm39)	missense	probably damaging	1.00
R5774:Pcdhb8	UTSW	18	37,489,738 (GRCm39)	missense	probably damaging	1.00
R5898:Pcdhb8	UTSW	18	37,490,537 (GRCm39)	missense	possibly damaging	0.92
R5935:Pcdhb8	UTSW	18	37,489,243 (GRCm39)	missense	probably damaging	1.00
R6191:Pcdhb8	UTSW	18	37,489,279 (GRCm39)	missense	probably benign
R6228:Pcdhb8	UTSW	18	37,490,037 (GRCm39)	missense	probably benign	0.05
R6245:Pcdhb8	UTSW	18	37,490,222 (GRCm39)	missense	possibly damaging	0.80
R6397:Pcdhb8	UTSW	18	37,488,516 (GRCm39)	nonsense	probably null
R7469:Pcdhb8	UTSW	18	37,489,011 (GRCm39)	missense	probably damaging	1.00
R7632:Pcdhb8	UTSW	18	37,488,648 (GRCm39)	missense	probably benign	0.00
R8323:Pcdhb8	UTSW	18	37,488,476 (GRCm39)	missense	probably benign	0.23
R8735:Pcdhb8	UTSW	18	37,489,975 (GRCm39)	missense	possibly damaging	0.91
R8841:Pcdhb8	UTSW	18	37,488,699 (GRCm39)	missense	probably benign	0.26
R8856:Pcdhb8	UTSW	18	37,489,776 (GRCm39)	missense	probably benign	0.01
R9020:Pcdhb8	UTSW	18	37,489,837 (GRCm39)	missense	probably damaging	1.00
R9055:Pcdhb8	UTSW	18	37,490,585 (GRCm39)	nonsense	probably null
R9077:Pcdhb8	UTSW	18	37,489,414 (GRCm39)	missense	probably damaging	0.99
R9387:Pcdhb8	UTSW	18	37,488,751 (GRCm39)	missense	probably benign

Posted On

2015-04-16