Mutagenetix > Incidental Mutations

Incidental Mutation 'R7922:Pcdhgb8'

648495

Institutional Source

Beutler Lab

Gene Symbol

Pcdhgb8

Ensembl Gene

ENSMUSG00000103081

Gene Name

protocadherin gamma subfamily B, 8

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R7922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37761801-37841870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37763949 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 691 (F691L)

Ref Sequence

ENSEMBL: ENSMUSP00000146671 (fasta)

Gene Model

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

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

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

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: ENSMUST00000208907
AA Change: F691L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

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: ENSMUST00000193984

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: 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: 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: 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: 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

SMART Domains

Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: F691L

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,164,406	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 68,949,996		probably null	Het
Abi3	A	T	11: 95,832,793	Y342N	unknown	Het
Adk	G	A	14: 21,318,043	V195I	probably benign	Het
Ago2	C	T	15: 73,126,526	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,999,753	I1077V	probably benign	Het
Arap1	A	T	7: 101,404,414	K1317*	probably null	Het
Auts2	T	A	5: 131,440,373	D493V		Het
Baz1b	A	T	5: 135,231,679	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,993,220	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,274,884	M511K	probably benign	Het
Cdh23	T	A	10: 60,382,706	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,403,980	L427V	unknown	Het
Cnga1	A	G	5: 72,604,882	F430L	possibly damaging	Het
Dnhd1	A	T	7: 105,668,514	D472V	probably damaging	Het
Dock2	T	A	11: 34,707,327	E339V	probably benign	Het
Eif3a	A	T	19: 60,775,842	V379E	probably damaging	Het
Erich4	T	A	7: 25,615,743	N36Y	probably damaging	Het
Fam60a	T	A	6: 148,926,146	T125S	probably benign	Het
Frem2	T	C	3: 53,653,304	T1261A	probably damaging	Het
Fzd6	A	T	15: 39,031,108	D223V	probably damaging	Het
Gabra2	A	T	5: 71,007,972	Y218*	probably null	Het
Gcn1l1	G	T	5: 115,614,468	M2177I	probably benign	Het
Ghr	G	A	15: 3,341,074	T103I	possibly damaging	Het
Gipc1	T	C	8: 83,661,228	V79A	probably benign	Het
Gm10031	A	T	1: 156,524,992	L254F	probably damaging	Het
Gm13272	T	A	4: 88,780,340	V164D	probably damaging	Het
Gramd4	C	A	15: 86,131,958	H503Q	probably benign	Het
Gstm4	A	T	3: 108,044,671	M1K	probably null	Het
Heatr5b	T	A	17: 78,760,559	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,790,195	K826*	probably null	Het
Hoxa9	T	C	6: 52,224,309	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,674,366	I46F	possibly damaging	Het
Ints2	T	A	11: 86,244,627	R320S	probably benign	Het
Iscu	A	T	5: 113,774,282	N46I	probably damaging	Het
Iscu	G	A	5: 113,774,349	R60Q	unknown	Het
Kcnk3	A	T	5: 30,588,531	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,842,860	S1228R	unknown	Het
Mbl2	T	A	19: 30,239,238	L150Q	probably damaging	Het
Med13	A	T	11: 86,271,005	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,301,553	L246*	probably null	Het
Muc16	T	C	9: 18,584,825	Q6690R	probably benign	Het
Myh10	T	A	11: 68,808,893	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,327,628	M237V	probably benign	Het
Olfml1	A	G	7: 107,571,149	Y81C	probably damaging	Het
Olfr735	A	G	14: 50,346,415	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,716,173	N411I	probably benign	Het
Pik3c2a	A	G	7: 116,391,282	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,533,875	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,849,013	H2250Y		Het
Pkd1l1	A	G	11: 8,909,857	S1034P		Het
Plcd1	C	A	9: 119,074,652	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 20,954,617	T58A	probably benign	Het
Ppp5c	T	C	7: 17,027,800	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,447,968	F82L	probably benign	Het
Prkag3	A	T	1: 74,741,257	S416R	probably benign	Het
Rab3gap2	T	C	1: 185,249,920	C390R	probably benign	Het
Rhot1	A	G	11: 80,265,803	T655A	probably benign	Het
Rorc	A	G	3: 94,391,188	I348V	probably damaging	Het
Ryr1	A	T	7: 29,097,224	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,658,256		probably null	Het
Serpinb3c	G	A	1: 107,272,014	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,019,438	M70K	probably damaging	Het
Slc7a4	C	T	16: 17,573,366	V607I	probably benign	Het
Spop	A	T	11: 95,471,328	N62Y	probably damaging	Het
Spout1	A	G	2: 30,176,811	F130S	probably benign	Het
Tab1	A	G	15: 80,158,865	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,932,642		probably null	Het
Tnxb	G	C	17: 34,714,603	K2332N	probably damaging	Het
Togaram1	T	C	12: 64,967,738	Y588H	probably damaging	Het
Trim71	G	A	9: 114,513,085	R710C	probably damaging	Het
Tsen54	C	T	11: 115,820,782	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812	N235K	unknown	Het
Utrn	C	A	10: 12,667,527	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 21,133,662	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 20,167,711	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,524,683	R369W	probably damaging	Het
Vwa7	G	T	17: 35,024,433	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,425,722	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,875	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,381,537	V415D	possibly damaging	Het
Zfp553	A	G	7: 127,236,596	H441R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TATCTTACCACGTGCTGCAGG -3'
(R):5'- CCCTCGCCTTAGTTGAGAGAAAC -3'

Sequencing Primer
(F):5'- TCTTCAGCCTGGGACTGC -3'
(R):5'- CGCCTTAGTTGAGAGAAACCTCTG -3'

Posted On

2020-09-15