Mutagenetix > Incidental Mutation

Incidental Mutation 'R4192:Pcdhgb8'

318375

Institutional Source

Beutler Lab

Gene Symbol

Pcdhgb8

Ensembl Gene

ENSMUSG00000103081

Gene Name

protocadherin gamma subfamily B, 8

Synonyms

MMRRC Submission

041023-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4192 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37761801-37841870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 37763541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 555 (D555H)

Ref Sequence

ENSEMBL: ENSMUSP00000146671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003599] [ENSMUST00000044851] [ENSMUST00000061279] [ENSMUST00000066149] [ENSMUST00000073447] [ENSMUST00000091935] [ENSMUST00000115661] [ENSMUST00000192511] [ENSMUST00000195764] [ENSMUST00000208907] [ENSMUST00000193404] [ENSMUST00000195823] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000195112] [ENSMUST00000194928] [ENSMUST00000194544] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000192931] [ENSMUST00000195363] [ENSMUST00000192535]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003599

SMART Domains

Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088

Domain	Start	End	E-Value	Type
CA	47	131	8.06e-6	SMART
CA	155	240	2.29e-19	SMART
CA	264	345	3.36e-26	SMART
CA	369	450	4.94e-24	SMART
CA	474	560	7.6e-25	SMART
CA	591	672	9.18e-10	SMART
Pfam:Cadherin_C_2	687	768	3.5e-20	PFAM
Pfam:Cadherin_tail	807	930	8.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044851

SMART Domains

Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
CA	45	131	3.28e-1	SMART
CA	155	240	1.8e-17	SMART
CA	264	345	9.22e-24	SMART
CA	369	450	1.28e-22	SMART
CA	474	560	1.09e-25	SMART
CA	591	669	9.24e-15	SMART
Pfam:Cadherin_C_2	688	772	3.6e-25	PFAM
Pfam:Cadherin_tail	809	932	8.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061279

SMART Domains

Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742

Domain	Start	End	E-Value	Type
CA	45	131	3.23e-2	SMART
CA	155	240	2.22e-17	SMART
CA	264	345	3.36e-26	SMART
CA	369	450	7.09e-25	SMART
CA	474	560	3.55e-25	SMART
CA	591	669	2.53e-12	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	914	933	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066149

SMART Domains

Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
CA	31	131	4.84e-2	SMART
CA	155	240	1.48e-22	SMART
CA	264	345	1.14e-23	SMART
CA	369	450	9.44e-21	SMART
CA	474	560	1.03e-26	SMART
CA	591	669	3.64e-13	SMART
Pfam:Cadherin_C_2	688	772	3e-25	PFAM
Pfam:Cadherin_tail	809	932	8.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073447

SMART Domains

Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	42	128	2.15e-2	SMART
CA	152	237	4.8e-13	SMART
CA	261	342	9.36e-25	SMART
CA	366	447	6.62e-25	SMART
CA	471	557	6.72e-26	SMART
CA	588	666	2.15e-15	SMART
Pfam:Cadherin_C_2	685	768	4.8e-24	PFAM
Pfam:Cadherin_tail	805	928	8.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091935

SMART Domains

Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
CA	32	132	8.37e-3	SMART
CA	156	241	5.51e-22	SMART
CA	265	346	8.27e-26	SMART
CA	370	451	1.4e-23	SMART
CA	475	561	2.97e-27	SMART
CA	592	670	1.18e-12	SMART
Pfam:Cadherin_C_2	688	772	3.9e-24	PFAM
Pfam:Cadherin_tail	809	932	8.1e-38	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

noncoding transcript
Transcript: ENSMUST00000180922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192501

Predicted Effect

probably benign
Transcript: ENSMUST00000192511

SMART Domains

Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472

Domain	Start	End	E-Value	Type
CA	47	133	1.57e-2	SMART
CA	157	242	3.24e-19	SMART
CA	266	347	3.21e-23	SMART
CA	371	452	9.08e-23	SMART
CA	476	562	1.32e-24	SMART
CA	593	671	3.5e-15	SMART
transmembrane domain	694	716	N/A	INTRINSIC
low complexity region	916	935	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000195764
AA Change: D555H

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

SMART Domains

Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: D555H

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
CA	57	132	1.5e-4	SMART
CA	156	241	1.2e-20	SMART
CA	265	346	7.8e-29	SMART
CA	370	451	1.7e-26	SMART
CA	475	561	2.2e-26	SMART
CA	592	673	6.4e-12	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	911	930	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000208907
AA Change: D555H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193045

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000193404

SMART Domains

Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222

Domain	Start	End	E-Value	Type
CA	43	129	2.76e-2	SMART
CA	153	238	1.16e-20	SMART
CA	262	343	1.25e-25	SMART
CA	367	448	4.75e-26	SMART
CA	472	558	3.69e-23	SMART
CA	589	667	3.84e-12	SMART
transmembrane domain	690	712	N/A	INTRINSIC
low complexity region	911	930	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195823

SMART Domains

Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
CA	45	131	2.41e-2	SMART
CA	155	240	5.77e-16	SMART
CA	264	345	1.1e-21	SMART
CA	369	450	2.75e-22	SMART
low complexity region	453	462	N/A	INTRINSIC
CA	474	560	9.22e-24	SMART
CA	591	669	2.4e-13	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	913	932	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193414

SMART Domains

Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567

Domain	Start	End	E-Value	Type
CA	45	131	2.45e-1	SMART
CA	155	240	1.05e-18	SMART
CA	264	345	6.52e-24	SMART
CA	369	450	5.99e-23	SMART
CA	474	560	6.99e-24	SMART
CA	591	669	5.31e-15	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	913	932	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193869

SMART Domains

Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	45	131	1.64e-2	SMART
CA	155	240	6.42e-23	SMART
CA	264	345	1.76e-20	SMART
CA	369	450	2.27e-23	SMART
CA	474	560	1.5e-23	SMART
CA	591	669	1.17e-16	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	912	931	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195112

SMART Domains

Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748

Domain	Start	End	E-Value	Type
CA	24	130	8.18e-3	SMART
CA	154	239	1.39e-18	SMART
CA	263	344	7.91e-23	SMART
CA	368	449	2.27e-23	SMART
CA	473	559	1.24e-24	SMART
CA	590	671	1.3e-9	SMART
transmembrane domain	690	712	N/A	INTRINSIC
low complexity region	909	928	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194928

SMART Domains

Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063

Domain	Start	End	E-Value	Type
CA	47	131	2.48e-6	SMART
CA	155	240	1.57e-17	SMART
CA	264	343	1.29e-27	SMART
CA	367	448	9.14e-28	SMART
CA	472	558	1.24e-24	SMART
CA	589	670	3.73e-10	SMART
transmembrane domain	689	711	N/A	INTRINSIC
low complexity region	716	721	N/A	INTRINSIC
low complexity region	910	929	N/A	INTRINSIC

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194190

SMART Domains

Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	31	131	3.16e-2	SMART
CA	155	240	5.39e-16	SMART
CA	264	345	6.72e-26	SMART
CA	369	450	1.32e-24	SMART
CA	474	560	4.17e-22	SMART
CA	591	669	4.48e-13	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	912	931	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194418

SMART Domains

Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677

Domain	Start	End	E-Value	Type
CA	44	130	1.64e-2	SMART
CA	154	239	3.93e-18	SMART
CA	263	344	5.22e-23	SMART
CA	368	449	5.02e-25	SMART
CA	473	559	2.07e-26	SMART
CA	590	668	6.84e-18	SMART
transmembrane domain	690	712	N/A	INTRINSIC
low complexity region	911	930	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192931

SMART Domains

Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037

Domain	Start	End	E-Value	Type
CA	36	119	8e-3	SMART
CA	143	228	1.34e-20	SMART
CA	252	333	1.52e-24	SMART
CA	357	438	9.22e-24	SMART
CA	462	548	1.24e-24	SMART
CA	579	660	1.3e-9	SMART
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	899	918	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195363

SMART Domains

Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585

Domain	Start	End	E-Value	Type
low complexity region	17	25	N/A	INTRINSIC
CA	56	131	1.47e-2	SMART
CA	155	240	1.23e-19	SMART
CA	264	343	5.54e-27	SMART
CA	367	448	5.09e-26	SMART
CA	472	558	1.98e-23	SMART
CA	589	670	1.3e-9	SMART
transmembrane domain	689	711	N/A	INTRINSIC
low complexity region	893	912	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192535

SMART Domains

Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749

Domain	Start	End	E-Value	Type
low complexity region	17	25	N/A	INTRINSIC
CA	56	131	8e-3	SMART
CA	155	240	2.49e-20	SMART
CA	264	341	4.97e-29	SMART
CA	365	446	1.09e-25	SMART
CA	470	556	1.75e-24	SMART
CA	587	668	9.18e-10	SMART
transmembrane domain	687	709	N/A	INTRINSIC
low complexity region	907	926	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 36,096,579	R178L	possibly damaging	Het
Acot4	T	C	12: 84,043,174		probably benign	Het
Add3	C	A	19: 53,242,524	D543E	probably benign	Het
Angpt4	A	C	2: 151,943,318	D418A	probably benign	Het
Ano8	A	T	8: 71,483,292	V260D	probably damaging	Het
Cfh	C	T	1: 140,102,716	R860H	possibly damaging	Het
Csmd3	T	C	15: 47,847,271	D1536G	probably damaging	Het
Dnajb9	A	T	12: 44,207,077	D182E	probably benign	Het
E330021D16Rik	T	C	6: 136,401,437	T132A	probably benign	Het
Epb42	G	T	2: 121,030,089		probably null	Het
Fam185a	T	A	5: 21,425,124		probably benign	Het
Fam205c	A	T	4: 42,874,185		probably benign	Het
Fer1l6	A	G	15: 58,647,149	D1710G	probably damaging	Het
Gabra2	G	A	5: 71,007,998	P210S	probably benign	Het
Gm8369	C	T	19: 11,502,232	P9S	probably damaging	Het
Il17ra	A	G	6: 120,481,511	D541G	probably damaging	Het
Ints4	T	G	7: 97,507,733	H337Q	probably damaging	Het
Itgam	A	G	7: 128,064,732	T44A	probably benign	Het
Lyst	C	A	13: 13,740,513	T3264N	probably damaging	Het
Macf1	A	G	4: 123,473,042	F1077S	possibly damaging	Het
Myo3a	T	A	2: 22,407,377	F728I	probably damaging	Het
Nacad	T	C	11: 6,605,534	E72G	probably benign	Het
Nkain3	G	A	4: 20,485,003	Q25*	probably null	Het
Oca2	T	C	7: 56,297,249	F342S	probably damaging	Het
Olfr934	T	A	9: 38,983,017	Q9L	probably benign	Het
Osbpl6	T	A	2: 76,585,229	L499Q	probably damaging	Het
Peak1	A	T	9: 56,258,741	N634K	probably damaging	Het
Pitpnm3	T	C	11: 72,051,959	K818R	possibly damaging	Het
Rab3gap1	T	A	1: 127,925,470		probably benign	Het
Rcc1l	T	C	5: 134,155,809	T385A	probably benign	Het
Rrm2	T	C	12: 24,708,378	I11T	probably benign	Het
Scnn1b	A	G	7: 121,902,739	T207A	possibly damaging	Het
Syt12	T	A	19: 4,447,681		probably benign	Het
Tmprss6	A	T	15: 78,446,657		probably null	Het
Ttbk1	A	T	17: 46,479,247	C91S	probably damaging	Het
Vit	A	G	17: 78,586,826	H219R	probably benign	Het
Vmn1r27	A	C	6: 58,215,827	I14R	probably damaging	Het

Other mutations in Pcdhgb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Pcdhgb8	APN	18	37825036	missense	probably damaging	1.00
R0011:Pcdhgb8	UTSW	18	37764282	missense	probably benign	0.03
R2763:Pcdhgb8	UTSW	18	37762262	missense	probably damaging	1.00
R3797:Pcdhgb8	UTSW	18	37762675	missense	probably benign	0.00
R3926:Pcdhgb8	UTSW	18	37762390	missense	probably damaging	1.00
R4012:Pcdhgb8	UTSW	18	37763361	missense	probably benign	0.32
R4167:Pcdhgb8	UTSW	18	37762543	missense	possibly damaging	0.82
R4183:Pcdhgb8	UTSW	18	37763541	missense	probably damaging	1.00
R4190:Pcdhgb8	UTSW	18	37763541	missense	probably damaging	1.00
R4191:Pcdhgb8	UTSW	18	37763541	missense	probably damaging	1.00
R4193:Pcdhgb8	UTSW	18	37763541	missense	probably damaging	1.00
R4441:Pcdhgb8	UTSW	18	37763061	missense	possibly damaging	0.84
R4585:Pcdhgb8	UTSW	18	37762360	missense	probably benign	0.24
R4762:Pcdhgb8	UTSW	18	37762366	missense	probably damaging	1.00
R4917:Pcdhgb8	UTSW	18	37764138	missense	probably damaging	1.00
R5825:Pcdhgb8	UTSW	18	37762236	missense	probably benign	0.03
R5992:Pcdhgb8	UTSW	18	37763449	missense	probably damaging	1.00
R6034:Pcdhgb8	UTSW	18	37762548	missense	possibly damaging	0.54
R6034:Pcdhgb8	UTSW	18	37762548	missense	possibly damaging	0.54
R6346:Pcdhgb8	UTSW	18	37762078	missense	probably damaging	1.00
R6800:Pcdhgb8	UTSW	18	37763527	missense	probably benign	0.40
R6833:Pcdhgb8	UTSW	18	37762089	missense	probably benign	0.14
R6834:Pcdhgb8	UTSW	18	37762089	missense	probably benign	0.14
R7032:Pcdhgb8	UTSW	18	37763909	missense	probably benign	0.00
R7035:Pcdhgb8	UTSW	18	37763148	missense	possibly damaging	0.93
R7145:Pcdhgb8	UTSW	18	37762997	nonsense	probably null
R7165:Pcdhgb8	UTSW	18	37763178	missense	possibly damaging	0.82
R7240:Pcdhgb8	UTSW	18	37763703	missense	probably damaging	0.99
R7314:Pcdhgb8	UTSW	18	37762999	missense	probably damaging	1.00
R7463:Pcdhgb8	UTSW	18	37763427	missense	probably damaging	1.00
R7922:Pcdhgb8	UTSW	18	37763949	missense	probably benign	0.00
R8052:Pcdhgb8	UTSW	18	37763502	missense	probably benign	0.00
R8477:Pcdhgb8	UTSW	18	37763312	missense	probably benign	0.00
R8826:Pcdhgb8	UTSW	18	37762248	missense	probably damaging	1.00
R8885:Pcdhgb8	UTSW	18	37763124	missense	possibly damaging	0.58
R9095:Pcdhgb8	UTSW	18	37762999	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCCATTGCTCAGGTCAGC -3'
(R):5'- GCAGCACGTGGTAAGATAGC -3'

Sequencing Primer
(F):5'- GGGATCCAATGGTTTCATCTCC -3'
(R):5'- TAAGATAGCCAGGCATTGTGTCC -3'

Posted On

2015-06-10