Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01413:Pcdhb8'

278431

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: 0.068) question?

Stock #

IGL01413

Quality Score

Status

Chromosome

Chromosomal Location

37488324-37490663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37489029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 236 (N236D)

Ref Sequence

ENSEMBL: ENSMUSP00000054371 (fasta)

Gene Model

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

AlphaFold

Q91XZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000051163
AA Change: N236D

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

SMART Domains

Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: N236D

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	T	18: 74,939,015 (GRCm39)		probably benign	Het
Adgrl1	T	A	8: 84,656,486 (GRCm39)	I268N	probably damaging	Het
Asic1	T	A	15: 99,569,998 (GRCm39)	N106K	probably damaging	Het
Ass1	A	G	2: 31,366,934 (GRCm39)	Y11C	probably damaging	Het
Cd44	T	C	2: 102,644,632 (GRCm39)	E448G	probably damaging	Het
Cdca2	A	G	14: 67,915,343 (GRCm39)	S639P	probably damaging	Het
Cfap221	T	A	1: 119,912,801 (GRCm39)	H91L	possibly damaging	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cnga4	A	T	7: 105,054,169 (GRCm39)	M46L	probably benign	Het
Col4a4	C	T	1: 82,448,969 (GRCm39)	G1207E	unknown	Het
Cracdl	G	A	1: 37,651,387 (GRCm39)	A1160V	possibly damaging	Het
Cthrc1	T	A	15: 38,943,894 (GRCm39)	L58Q	possibly damaging	Het
Cyb561a3	T	A	19: 10,562,610 (GRCm39)	H83Q	probably damaging	Het
Dlgap1	C	A	17: 70,823,069 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,323,790 (GRCm39)	L3707F	probably damaging	Het
Dnai7	A	T	6: 145,120,812 (GRCm39)	M669K	probably damaging	Het
Duox1	A	G	2: 122,151,191 (GRCm39)	N289D	probably benign	Het
Fbrsl1	T	A	5: 110,526,114 (GRCm39)	E443D	probably damaging	Het
Fgfr1	T	A	8: 26,052,239 (GRCm39)	C288*	probably null	Het
Gabbr1	A	G	17: 37,373,598 (GRCm39)	N498S	possibly damaging	Het
Gja10	T	C	4: 32,602,070 (GRCm39)	K105E	probably damaging	Het
Glra4	C	T	X: 135,663,493 (GRCm39)	R352H	probably benign	Het
Gm19402	G	T	10: 77,526,323 (GRCm39)		probably benign	Het
Hadha	T	A	5: 30,346,025 (GRCm39)	M200L	probably benign	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Huwe1	A	T	X: 150,665,676 (GRCm39)	Q1231L	possibly damaging	Het
Ifi214	T	A	1: 173,356,995 (GRCm39)	N36I	probably damaging	Het
Il17ra	A	G	6: 120,452,542 (GRCm39)	N242D	probably benign	Het
Il1rl1	A	T	1: 40,485,329 (GRCm39)	K260N	possibly damaging	Het
Lhx6	C	A	2: 35,993,528 (GRCm39)	A57S	probably benign	Het
Mdh2	T	A	5: 135,814,879 (GRCm39)	I116N	probably damaging	Het
Met	T	C	6: 17,558,895 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,638,211 (GRCm39)	D387G	probably damaging	Het
Myo3a	T	C	2: 22,302,411 (GRCm39)	S287P	probably benign	Het
Nol8	T	G	13: 49,813,428 (GRCm39)	N140K	possibly damaging	Het
Nrap	C	A	19: 56,377,823 (GRCm39)	A56S	probably damaging	Het
Nuggc	A	G	14: 65,876,030 (GRCm39)	T548A	probably benign	Het
Or10j2	T	A	1: 173,098,275 (GRCm39)	C178S	probably damaging	Het
Or2i1	A	T	17: 37,508,554 (GRCm39)	F102I	possibly damaging	Het
Pcdh11x	A	G	X: 119,309,282 (GRCm39)	T242A	probably benign	Het
Pdzph1	T	C	17: 59,186,147 (GRCm39)	I1215V	possibly damaging	Het
Plekha8	C	T	6: 54,599,261 (GRCm39)	T265I	probably benign	Het
Pou4f2	T	A	8: 79,161,734 (GRCm39)	I290F	probably damaging	Het
Pramel22	A	T	4: 143,381,887 (GRCm39)	F270I	probably benign	Het
Ptpn3	G	A	4: 57,270,156 (GRCm39)	T2I	probably damaging	Het
Rab28	A	T	5: 41,855,790 (GRCm39)	D68E	probably damaging	Het
Rbl1	T	C	2: 156,994,812 (GRCm39)		probably null	Het
Samd4	A	G	14: 47,254,249 (GRCm39)	T137A	probably benign	Het
Serpinb1b	T	G	13: 33,277,842 (GRCm39)	D358E	probably damaging	Het
Serpinb9c	G	A	13: 33,335,787 (GRCm39)	L222F	probably damaging	Het
Slc24a3	A	G	2: 145,482,169 (GRCm39)	D609G	probably damaging	Het
Slc25a40	A	C	5: 8,503,298 (GRCm39)	*338Y	probably null	Het
Spef2	T	A	15: 9,676,376 (GRCm39)	I732L	probably benign	Het
Srrm2	T	C	17: 24,034,999 (GRCm39)		probably benign	Het
Ssxb13	A	G	X: 8,615,692 (GRCm39)	E75G	probably benign	Het
Stmnd1	A	T	13: 46,453,157 (GRCm39)	I278L	probably benign	Het
Strap	C	A	6: 137,722,502 (GRCm39)		probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tcf4	A	C	18: 69,788,090 (GRCm39)	E160D	probably damaging	Het
Themis3	A	G	17: 66,863,092 (GRCm39)	Y289H	probably benign	Het
Tmem87a	T	C	2: 120,216,351 (GRCm39)	T180A	probably benign	Het
Trappc10	A	G	10: 78,033,678 (GRCm39)	V963A	possibly damaging	Het
Trav19	G	T	14: 54,083,072 (GRCm39)	C49F	probably damaging	Het
Trim30c	A	G	7: 104,031,541 (GRCm39)	S425P	possibly damaging	Het
Ubap1	A	T	4: 41,387,333 (GRCm39)	R414S	probably benign	Het
Usp9x	A	G	X: 13,017,579 (GRCm39)	S1696G	probably benign	Het
Vipas39	G	A	12: 87,296,171 (GRCm39)	T274I	probably benign	Het
Vmn1r185	A	T	7: 26,311,046 (GRCm39)	V153E	probably damaging	Het
Vmn2r124	A	G	17: 18,282,827 (GRCm39)	T174A	probably benign	Het
Wdr59	T	A	8: 112,227,706 (GRCm39)	S124C	probably benign	Het
Xirp2	A	T	2: 67,340,270 (GRCm39)	D837V	probably damaging	Het
Zfp185	A	G	X: 72,061,997 (GRCm39)	D403G	possibly damaging	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	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
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
IGL02607:Pcdhb8	APN	18	37,490,634 (GRCm39)	missense	probably benign	0.00
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