Mutagenetix > Incidental Mutation

Incidental Mutation 'R1731:Pcdhb8'

199351

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb8

Ensembl Gene

ENSMUSG00000045876

Gene Name

protocadherin beta 8

Synonyms

PcdhbH, Pcdhb5C

MMRRC Submission

039763-MU

Accession Numbers

Essential gene?

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

Stock #

R1731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37488324-37490663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37488891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 190 (K190E)

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: K190E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: K190E

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

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,762,805 (GRCm39)	Y140F	probably damaging	Het
Adgrl4	T	G	3: 151,246,623 (GRCm39)	I641S	possibly damaging	Het
Aqp9	A	G	9: 71,030,250 (GRCm39)	I205T	possibly damaging	Het
Arap3	C	T	18: 38,122,965 (GRCm39)	V512I	probably benign	Het
Atf2	C	T	2: 73,675,853 (GRCm39)	G123E	probably damaging	Het
Baz1a	T	C	12: 54,965,330 (GRCm39)	D708G	possibly damaging	Het
Calcrl	A	G	2: 84,175,512 (GRCm39)		probably null	Het
Capzb	T	A	4: 139,007,341 (GRCm39)	W110R	probably damaging	Het
Casp8ap2	A	T	4: 32,641,442 (GRCm39)	N832I	possibly damaging	Het
Cecr2	T	A	6: 120,735,141 (GRCm39)	H764Q	possibly damaging	Het
Cep131	T	C	11: 119,967,742 (GRCm39)		probably null	Het
Ces2e	T	C	8: 105,656,208 (GRCm39)	V173A	probably damaging	Het
Clstn3	T	C	6: 124,408,591 (GRCm39)	D944G	probably benign	Het
Cyb5rl	C	A	4: 106,938,110 (GRCm39)	A189E	probably damaging	Het
Cyp2c40	A	G	19: 39,801,133 (GRCm39)	S41P	probably damaging	Het
Dscam	A	G	16: 96,621,076 (GRCm39)	L544P	probably damaging	Het
Epha2	A	G	4: 141,049,063 (GRCm39)	K640E	possibly damaging	Het
Erap1	T	A	13: 74,814,241 (GRCm39)	C8*	probably null	Het
Fat3	A	G	9: 15,907,233 (GRCm39)	V2923A	probably benign	Het
Fat4	A	T	3: 38,945,459 (GRCm39)	I1451F	probably damaging	Het
Fcsk	A	T	8: 111,621,455 (GRCm39)	I163N	probably damaging	Het
Fzd6	G	A	15: 38,894,722 (GRCm39)	G296D	probably damaging	Het
Gm3486	T	A	14: 41,206,492 (GRCm39)	M194L	probably benign	Het
Gm5592	C	T	7: 40,937,837 (GRCm39)	A373V	probably damaging	Het
Hectd3	T	A	4: 116,853,652 (GRCm39)		probably null	Het
Hira	T	A	16: 18,751,764 (GRCm39)	V521E	probably benign	Het
Hsd17b6	A	G	10: 127,830,348 (GRCm39)	L141S	possibly damaging	Het
Idua	A	G	5: 108,829,538 (GRCm39)	D467G	probably benign	Het
Ikzf4	G	A	10: 128,470,401 (GRCm39)	P373L	probably benign	Het
Kcng1	T	C	2: 168,110,609 (GRCm39)	E185G	probably benign	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lpcat4	T	C	2: 112,074,188 (GRCm39)	L250P	probably damaging	Het
Lrrc49	A	G	9: 60,528,914 (GRCm39)	Y281H	probably damaging	Het
Mta2	C	A	19: 8,925,088 (GRCm39)		probably null	Het
Myo15b	T	C	11: 115,782,386 (GRCm39)	I372T	possibly damaging	Het
Myocd	T	A	11: 65,091,714 (GRCm39)	N76I	probably benign	Het
Nav2	T	A	7: 49,197,922 (GRCm39)	Y1123N	probably damaging	Het
Otogl	A	T	10: 107,652,972 (GRCm39)	C1127S	probably damaging	Het
Pcnx1	A	G	12: 82,037,478 (GRCm39)	H1918R	probably damaging	Het
Pde2a	T	A	7: 101,150,867 (GRCm39)	Y272N	probably damaging	Het
Phldb3	T	C	7: 24,318,660 (GRCm39)	V313A	probably benign	Het
Plch2	C	T	4: 155,091,451 (GRCm39)	V116I	possibly damaging	Het
Plod2	G	A	9: 92,466,657 (GRCm39)		probably null	Het
Ppfibp2	T	C	7: 107,339,796 (GRCm39)	Y730H	probably damaging	Het
Ptprh	T	C	7: 4,604,912 (GRCm39)	E44G	probably benign	Het
Rab11fip1	T	C	8: 27,642,438 (GRCm39)	E787G	probably damaging	Het
Rabep2	T	A	7: 126,043,444 (GRCm39)	L448Q	probably damaging	Het
Rbfox3	A	G	11: 118,387,762 (GRCm39)		probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf125	A	G	18: 21,110,873 (GRCm39)	T44A	probably benign	Het
Rusc2	G	T	4: 43,426,046 (GRCm39)	A1384S	probably benign	Het
Selp	T	A	1: 163,969,009 (GRCm39)	C536*	probably null	Het
Serpinb3c	G	A	1: 107,199,504 (GRCm39)	T339I	probably damaging	Het
Slc4a5	C	T	6: 83,273,617 (GRCm39)	R986C	probably damaging	Het
Slc8b1	T	C	5: 120,659,180 (GRCm39)	I208T	probably benign	Het
Sp3	G	A	2: 72,776,999 (GRCm39)	H533Y	probably damaging	Het
Speer1e	T	A	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Tiam2	A	G	17: 3,568,698 (GRCm39)	R1615G	probably damaging	Het
Tie1	T	C	4: 118,333,460 (GRCm39)	E802G	probably damaging	Het
Tinagl1	A	G	4: 130,061,842 (GRCm39)	V164A	probably benign	Het
Vmn1r68	A	G	7: 10,261,802 (GRCm39)	Y99H	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r56	T	C	7: 12,466,972 (GRCm39)	T21A	probably benign	Het
Zfp108	C	A	7: 23,957,964 (GRCm39)	H34Q	possibly damaging	Het
Zfp267	T	A	3: 36,218,620 (GRCm39)	F214L	probably benign	Het
Zfp456	C	T	13: 67,514,674 (GRCm39)	S344N	probably benign	Het
Zscan22	T	C	7: 12,640,907 (GRCm39)	C384R	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTCCCTGACACAGAAATGCTCC -3'
(R):5'- CCTGGCAGAGACAGTGACAACTAAG -3'

Sequencing Primer
(F):5'- GCTCCTAAAAATTCAAGAAATTGCC -3'
(R):5'- TCCACCGCATAGAGTGACTG -3'

Posted On

2014-05-23