Mutagenetix > Incidental Mutation

Incidental Mutation 'R5898:Pcdhb8'

457700

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb8

Ensembl Gene

ENSMUSG00000045876

Gene Name

protocadherin beta 8

Synonyms

PcdhbH, Pcdhb5C

MMRRC Submission

044097-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37488324-37490663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37490537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 738 (D738E)

Ref Sequence

ENSEMBL: ENSMUSP00000054371 (fasta)

Gene Model

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

AlphaFold

Q91XZ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051163
AA Change: D738E

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: D738E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,448,762 (GRCm39)	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,451,070 (GRCm39)	M179I	probably benign	Het
Abhd12	T	C	2: 150,681,698 (GRCm39)	I231V	possibly damaging	Het
Adsl	A	G	15: 80,845,554 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,991,131 (GRCm39)	N4138K	possibly damaging	Het
Ahnak	T	C	19: 8,995,575 (GRCm39)	S5620P	probably damaging	Het
Akap13	C	T	7: 75,378,894 (GRCm39)	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,440,694 (GRCm39)	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,557,732 (GRCm39)	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,162,916 (GRCm39)	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,957 (GRCm39)	I48V	probably benign	Het
BC051665	A	C	13: 60,930,518 (GRCm39)	V278G	probably damaging	Het
Bicd1	A	T	6: 149,415,201 (GRCm39)	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,251,192 (GRCm39)	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,094,538 (GRCm39)	R496L	probably benign	Het
Cdcp3	T	G	7: 130,843,696 (GRCm39)		probably null	Het
Cep44	C	G	8: 56,994,056 (GRCm39)	V174L	probably damaging	Het
Clca3a1	G	T	3: 144,722,522 (GRCm39)	F283L	possibly damaging	Het
Csk	T	C	9: 57,537,585 (GRCm39)	T110A	probably benign	Het
Cspg4	T	A	9: 56,792,506 (GRCm39)		probably null	Het
Cutc	A	G	19: 43,748,468 (GRCm39)	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,339,725 (GRCm39)	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,465,951 (GRCm39)	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,046,577 (GRCm39)		probably null	Het
Dcaf15	G	T	8: 84,825,081 (GRCm39)	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,840,125 (GRCm39)	I723K	probably damaging	Het
Dnah17	C	T	11: 118,005,039 (GRCm39)	A782T	probably benign	Het
Dnah3	T	C	7: 119,677,724 (GRCm39)	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717 (GRCm39)	N909S	probably benign	Het
Erbin	A	G	13: 103,975,813 (GRCm39)		probably null	Het
Fanci	G	A	7: 79,083,069 (GRCm39)	V682I	probably benign	Het
Fap	A	T	2: 62,403,847 (GRCm39)	F9L	probably benign	Het
Fat3	T	C	9: 15,849,757 (GRCm39)	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,244,294 (GRCm39)		probably null	Het
Fsd2	T	C	7: 81,186,975 (GRCm39)	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,599,468 (GRCm39)		noncoding transcript	Het
Gramd4	G	T	15: 85,984,985 (GRCm39)	G82V	probably damaging	Het
Hc	C	T	2: 34,887,449 (GRCm39)	V1352I	probably benign	Het
Hsph1	A	T	5: 149,548,623 (GRCm39)	N466K	probably damaging	Het
Ice2	T	A	9: 69,315,544 (GRCm39)	D133E	probably benign	Het
Ifi213	T	C	1: 173,396,545 (GRCm39)	M510V	probably benign	Het
Itpkb	T	G	1: 180,248,880 (GRCm39)	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476 (GRCm39)	D283E	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Masp1	T	A	16: 23,310,677 (GRCm39)	I252F	probably damaging	Het
Megf11	G	T	9: 64,593,246 (GRCm39)	C586F	probably damaging	Het
Myh2	C	A	11: 67,083,545 (GRCm39)	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,950,196 (GRCm39)		probably null	Het
Naip6	A	T	13: 100,435,829 (GRCm39)	V898E	possibly damaging	Het
Nav1	T	C	1: 135,512,884 (GRCm39)	M59V	probably benign	Het
Nlrp3	A	T	11: 59,437,678 (GRCm39)	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,600,758 (GRCm39)	I77N	possibly damaging	Het
Pdia5	A	T	16: 35,243,335 (GRCm39)	W269R	probably damaging	Het
Peak1	T	A	9: 56,114,622 (GRCm39)	T1440S	probably benign	Het
Piezo1	A	G	8: 123,214,682 (GRCm39)	V1547A	probably benign	Het
Pkp1	T	C	1: 135,810,259 (GRCm39)	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,253,104 (GRCm39)	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,671,887 (GRCm39)		probably benign	Het
Prrg4	C	T	2: 104,675,378 (GRCm39)	S75N	probably benign	Het
Psmb9	T	A	17: 34,401,266 (GRCm39)	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,399,405 (GRCm39)	L23*	probably null	Het
Sbno1	A	T	5: 124,524,854 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,345,039 (GRCm39)	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,652,388 (GRCm39)	D46E	probably benign	Het
Selenov	A	G	7: 27,987,579 (GRCm39)	F293L	probably damaging	Het
Septin2	A	C	1: 93,407,023 (GRCm39)	D20A	probably benign	Het
Shc1	T	A	3: 89,334,274 (GRCm39)	Y313*	probably null	Het
Siglec1	T	A	2: 130,915,553 (GRCm39)	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,764,559 (GRCm39)	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,365,123 (GRCm39)	N152S	probably damaging	Het
Smoc1	C	T	12: 81,151,531 (GRCm39)	R83*	probably null	Het
Ssx2ip	A	G	3: 146,133,586 (GRCm39)	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,567,372 (GRCm39)	D576G	probably damaging	Het
Tbx20	T	A	9: 24,670,155 (GRCm39)	Y226F	probably damaging	Het
Trav10d	G	T	14: 53,048,929 (GRCm39)	A107S	probably damaging	Het
Trim60	A	T	8: 65,453,016 (GRCm39)	L411*	probably null	Het
Ttbk2	A	T	2: 120,575,521 (GRCm39)	V1083D	probably benign	Het
Unc93a	T	A	17: 13,344,464 (GRCm39)	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819 (GRCm39)	N65I	possibly damaging	Het
Vip	A	T	10: 5,593,988 (GRCm39)	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,534,813 (GRCm39)	I179F	probably damaging	Het
Wdr47	T	A	3: 108,545,201 (GRCm39)		probably null	Het
Zfp975	A	T	7: 42,311,963 (GRCm39)	C217S	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
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
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'- TCATGCTGCAGGTGCTAGTG -3'
(R):5'- CCAAGACACTCATTTGGATTCTG -3'

Sequencing Primer
(F):5'- TACCTGCCTCTGCCAGAG -3'
(R):5'- GTTATAGAATTGTAGGTCTTCCTGAC -3'

Posted On

2017-02-15