Mutagenetix > Incidental Mutations

Incidental Mutation 'R5825:Pcdhgb8'

450149

Institutional Source

Beutler Lab

Gene Symbol

Pcdhgb8

Ensembl Gene

ENSMUSG00000103081

Gene Name

protocadherin gamma subfamily B, 8

Synonyms

MMRRC Submission

044053-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37761801-37841870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37762236 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 120 (V120I)

Ref Sequence

ENSEMBL: ENSMUSP00000146671 (fasta)

Gene Model

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

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 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

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

noncoding transcript
Transcript: ENSMUST00000193045

Predicted Effect

probably benign
Transcript: ENSMUST00000195764
AA Change: V120I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: V120I

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 benign
Transcript: ENSMUST00000208907
AA Change: V120I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

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: 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: 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: 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: 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: 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: 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: 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

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,920,127	Y217*	probably null	Het
Abca2	A	T	2: 25,436,736	I567F	probably benign	Het
Acss2	T	A	2: 155,549,178		probably null	Het
Atxn7l2	C	A	3: 108,204,811	A320S	probably damaging	Het
Bfsp1	C	T	2: 143,827,459	G400D	probably benign	Het
Ces5a	G	T	8: 93,525,667	A199D	probably damaging	Het
Chd2	A	T	7: 73,484,602		probably null	Het
Crebbp	A	G	16: 4,087,742	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,507,214	Q58L	probably benign	Het
Dlec1	T	A	9: 119,142,968	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,126,601	H593R	probably benign	Het
Ep300	T	A	15: 81,611,472	C412S	probably benign	Het
Fam110a	A	G	2: 151,970,041	S270P	probably damaging	Het
Gcc2	A	G	10: 58,294,821	T1412A	probably damaging	Het
Gm4788	T	A	1: 139,774,598		probably null	Het
Helz2	T	C	2: 181,232,656	E2015G	probably benign	Het
Hormad1	T	C	3: 95,562,559	V39A	probably damaging	Het
Igf2	G	T	7: 142,653,855	H168Q	probably damaging	Het
Il18rap	A	G	1: 40,531,566	T223A	probably benign	Het
Itpr2	T	C	6: 146,144,149	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896	V886E	probably benign	Het
Klra1	T	C	6: 130,380,629	R12G	probably damaging	Het
Lamb1	A	G	12: 31,318,614	I1248V	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mapk7	C	T	11: 61,490,381	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,118,212	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Ninl	A	T	2: 150,940,724	I1182N	probably damaging	Het
Nup160	A	G	2: 90,679,770		probably null	Het
Nynrin	A	G	14: 55,864,226	R451G	probably benign	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr190	T	C	16: 59,074,661	I140V	probably benign	Het
Osbp	A	G	19: 11,970,721	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,768,503	D796A	possibly damaging	Het
Pdgfb	A	T	15: 79,997,668	V213E	probably benign	Het
Phldb2	T	C	16: 45,763,097	M1013V	probably benign	Het
Pnmal1	A	G	7: 16,961,095	S292G	probably benign	Het
Prrt4	A	G	6: 29,177,183	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,955,375	M463V	possibly damaging	Het
Tmprss11g	A	T	5: 86,498,533	S58R	probably damaging	Het
Traf3	C	A	12: 111,255,361	Q319K	probably benign	Het
Trappc8	C	T	18: 20,873,920	V194M	probably damaging	Het
Tyw1	A	G	5: 130,268,088	K182R	probably damaging	Het
Usp48	A	G	4: 137,623,378	T585A	probably benign	Het
Xkr6	G	T	14: 63,819,032	V387L	probably benign	Het
Yod1	T	C	1: 130,719,006	W207R	probably damaging	Het
Zdhhc8	T	C	16: 18,228,674	S63G	probably null	Het
Zfp827	A	G	8: 79,179,016	E874G	probably damaging	Het
Zfy1	T	A	Y: 726,531	K411N	possibly 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
R4192: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
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

Predicted Primers

Posted On

2016-12-20