Mutagenetix > Incidental Mutation

Incidental Mutation 'R1232:Pcdhb8'

152332

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb8

Ensembl Gene

ENSMUSG00000045876

Gene Name

protocadherin beta 8

Synonyms

PcdhbH, Pcdhb5C

MMRRC Submission

039301-MU

Accession Numbers

Essential gene?

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

Stock #

R1232 (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 37488828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 169 (N169D)

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: N169D

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: N169D

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: 99.1%
3x: 98.0%
10x: 95.0%
20x: 88.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,469,300 (GRCm39)	L751M	probably damaging	Het
Arhgap29	A	G	3: 121,796,989 (GRCm39)	D525G	probably damaging	Het
Ccdc168	T	C	1: 44,095,752 (GRCm39)	Y1782C	possibly damaging	Het
Ces2h	T	C	8: 105,741,287 (GRCm39)	M93T	probably benign	Het
Cyp4a12b	A	T	4: 115,289,760 (GRCm39)	D209V	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Fbxo38	A	G	18: 62,643,882 (GRCm39)	V925A	probably damaging	Het
Glp1r	A	C	17: 31,137,905 (GRCm39)	H112P	probably benign	Het
Gtf3c5	A	G	2: 28,461,227 (GRCm39)	W296R	probably damaging	Het
Ints8	A	G	4: 11,234,587 (GRCm39)	I415T	possibly damaging	Het
Krt1c	A	G	15: 101,720,219 (GRCm39)	S513P	probably damaging	Het
Loxhd1	G	A	18: 77,493,699 (GRCm39)		probably null	Het
Mfsd3	A	G	15: 76,587,382 (GRCm39)	Q355R	probably damaging	Het
Mms22l	C	T	4: 24,536,274 (GRCm39)	T621I	probably benign	Het
Or8g54	G	A	9: 39,707,264 (GRCm39)	V198I	probably benign	Het
Rnls	T	G	19: 33,180,046 (GRCm39)	I135L	probably benign	Het
Sgsm1	G	T	5: 113,421,577 (GRCm39)	C558*	probably null	Het
Spata31d1c	T	A	13: 65,184,428 (GRCm39)	C657S	probably benign	Het
Vmn2r15	T	C	5: 109,441,168 (GRCm39)	D230G	probably benign	Het
Zfp429	T	C	13: 67,538,751 (GRCm39)	Y231C	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTAGAGGGGCACGAATCCATCAC -3'
(R):5'- TGTCCACGACTTCAATCCGAACAG -3'

Sequencing Primer
(F):5'- ACAGAACCCTGTGTGCTG -3'
(R):5'- CAATCCGAACAGTGGTTGTC -3'

Posted On

2014-01-29