Mutagenetix > Incidental Mutations

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

Pcdhb5C, PcdhbH

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02607

Quality Score

Status

Chromosome

Chromosomal Location

37355121-37358604 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37357581 bp (GRCm38)

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
1110004E09Rik	G	A	16: 90,929,947	T98M	probably damaging	Het
Abca17	C	T	17: 24,327,705	W307*	probably null	Het
Cit	A	G	5: 115,859,209	I84V	probably benign	Het
Cltc	T	C	11: 86,706,714	D1132G	probably benign	Het
Cobll1	A	T	2: 65,151,085	S54T	probably damaging	Het
Dcstamp	A	G	15: 39,754,584	R130G	possibly damaging	Het
Dennd4a	A	G	9: 64,862,327	M439V	probably damaging	Het
Dnajc15	T	A	14: 77,840,216	I110F	probably damaging	Het
Dock1	T	C	7: 134,851,513	F824L	probably benign	Het
Eml2	A	G	7: 19,206,111	H617R	probably damaging	Het
Fgd6	A	T	10: 94,044,448	Q388L	possibly damaging	Het
Fkbp4	A	T	6: 128,434,470		probably benign	Het
Fmnl3	A	T	15: 99,324,772	L431Q	probably damaging	Het
Gng8	T	C	7: 16,894,934		probably benign	Het
Hmcn1	T	A	1: 150,744,995	I1155F	possibly damaging	Het
Muc4	G	T	16: 32,775,819	C3135F	possibly damaging	Het
Mycbp2	C	T	14: 103,285,273	G685D	probably damaging	Het
Olfr1389	T	C	11: 49,430,512	F12S	probably damaging	Het
Pkn2	A	G	3: 142,794,101		probably null	Het
Rrn3	G	T	16: 13,806,563	V420L	possibly damaging	Het
Samm50	A	T	15: 84,207,838	Y338F	probably benign	Het
Slc2a7	C	T	4: 150,154,705	T129I	probably benign	Het
Tbc1d8	T	C	1: 39,379,511	I806V	probably benign	Het
Tex2	T	C	11: 106,546,747	E699G	unknown	Het
Vmn2r85	T	C	10: 130,426,421	K150E	possibly damaging	Het

Other mutations in Pcdhb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Pcdhb8	APN	18	37355473	missense	probably benign	0.00
IGL00574:Pcdhb8	APN	18	37356370	missense	probably damaging	1.00
IGL00960:Pcdhb8	APN	18	37355973	missense	probably benign	0.28
IGL01103:Pcdhb8	APN	18	37357200	missense	probably damaging	1.00
IGL01330:Pcdhb8	APN	18	37357578	missense	probably benign	0.12
IGL01413:Pcdhb8	APN	18	37355976	missense	probably damaging	1.00
IGL01418:Pcdhb8	APN	18	37355976	missense	probably damaging	1.00
IGL01608:Pcdhb8	APN	18	37356925	missense	probably damaging	1.00
IGL02212:Pcdhb8	APN	18	37356412	missense	possibly damaging	0.95
IGL02582:Pcdhb8	APN	18	37355374	missense	possibly damaging	0.79
IGL02882:Pcdhb8	APN	18	37356223	missense	possibly damaging	0.95
IGL03005:Pcdhb8	APN	18	37357534	missense	probably damaging	1.00
IGL03108:Pcdhb8	APN	18	37357246	missense	probably damaging	1.00
PIT4468001:Pcdhb8	UTSW	18	37356633	missense	probably damaging	1.00
R0104:Pcdhb8	UTSW	18	37355665	missense	probably benign	0.01
R0490:Pcdhb8	UTSW	18	37356780	missense	probably damaging	1.00
R0617:Pcdhb8	UTSW	18	37357047	missense	probably benign	0.02
R1168:Pcdhb8	UTSW	18	37356727	missense	probably benign
R1189:Pcdhb8	UTSW	18	37356567	nonsense	probably null
R1232:Pcdhb8	UTSW	18	37355775	missense	probably benign	0.28
R1503:Pcdhb8	UTSW	18	37356519	missense	probably damaging	1.00
R1576:Pcdhb8	UTSW	18	37356703	missense	probably damaging	1.00
R1731:Pcdhb8	UTSW	18	37355838	missense	probably damaging	1.00
R1908:Pcdhb8	UTSW	18	37355962	missense	possibly damaging	0.84
R1909:Pcdhb8	UTSW	18	37355962	missense	possibly damaging	0.84
R2215:Pcdhb8	UTSW	18	37357074	missense	probably damaging	0.98
R3080:Pcdhb8	UTSW	18	37356166	missense	probably damaging	1.00
R4394:Pcdhb8	UTSW	18	37356882	missense	probably damaging	1.00
R4799:Pcdhb8	UTSW	18	37355653	missense	probably damaging	1.00
R4845:Pcdhb8	UTSW	18	37356718	missense	probably benign	0.43
R4879:Pcdhb8	UTSW	18	37356166	missense	probably damaging	1.00
R4941:Pcdhb8	UTSW	18	37356006	missense	probably benign	0.03
R5086:Pcdhb8	UTSW	18	37356106	missense	probably damaging	1.00
R5416:Pcdhb8	UTSW	18	37356955	missense	probably damaging	1.00
R5774:Pcdhb8	UTSW	18	37356685	missense	probably damaging	1.00
R5898:Pcdhb8	UTSW	18	37357484	missense	possibly damaging	0.92
R5935:Pcdhb8	UTSW	18	37356190	missense	probably damaging	1.00
R6191:Pcdhb8	UTSW	18	37356226	missense	probably benign
R6228:Pcdhb8	UTSW	18	37356984	missense	probably benign	0.05
R6245:Pcdhb8	UTSW	18	37357169	missense	possibly damaging	0.80
R6397:Pcdhb8	UTSW	18	37355463	nonsense	probably null
R7469:Pcdhb8	UTSW	18	37355958	missense	probably damaging	1.00
R7632:Pcdhb8	UTSW	18	37355595	missense	probably benign	0.00
R8323:Pcdhb8	UTSW	18	37355423	missense	probably benign	0.23
R8735:Pcdhb8	UTSW	18	37356922	missense	possibly damaging	0.91
R8841:Pcdhb8	UTSW	18	37355646	missense	probably benign	0.26
R8856:Pcdhb8	UTSW	18	37356723	missense	probably benign	0.01
R9020:Pcdhb8	UTSW	18	37356784	missense	probably damaging	1.00
R9055:Pcdhb8	UTSW	18	37357532	nonsense	probably null
R9077:Pcdhb8	UTSW	18	37356361	missense	probably damaging	0.99
R9387:Pcdhb8	UTSW	18	37355698	missense	probably benign

Posted On

2015-04-16