Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Pcdhgb2'

616380

Institutional Source

Beutler Lab

Gene Symbol

Pcdhgb2

Ensembl Gene

ENSMUSG00000102748

Gene Name

protocadherin gamma subfamily B, 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37689828-37841873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37690634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 226 (Q226L)

Ref Sequence

ENSEMBL: ENSMUSP00000141449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073447] [ENSMUST00000115661] [ENSMUST00000192931] [ENSMUST00000193414] [ENSMUST00000193869] [ENSMUST00000194190] [ENSMUST00000194418] [ENSMUST00000194544] [ENSMUST00000195112]

AlphaFold

Q91XX7

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: 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: 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: 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: ENSMUST00000195112
AA Change: Q226L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
AA Change: Q226L

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: ENSMUST00000195163

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,286,732	I265V	probably benign	Het
Erich3	T	C	3: 154,713,916	S19P	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Psg22	A	T	7: 18,719,746	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snap47	T	A	11: 59,438,354	T41S	probably benign	Het
Snx21	T	C	2: 164,786,737	L100P	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stk32a	A	T	18: 43,315,144	N396I	possibly damaging	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,047,287	M1V	probably null	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	Het
Zfp619	A	G	7: 39,535,221	K225R	probably benign	Het

Other mutations in Pcdhgb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2906:Pcdhgb2	UTSW	18	37690855	missense	probably damaging	1.00
R3081:Pcdhgb2	UTSW	18	37691513	missense	probably damaging	1.00
R3780:Pcdhgb2	UTSW	18	37691757	missense	probably damaging	1.00
R4095:Pcdhgb2	UTSW	18	37690950	missense	probably benign	0.01
R4258:Pcdhgb2	UTSW	18	37692049	missense	probably damaging	1.00
R4261:Pcdhgb2	UTSW	18	37691897	missense	probably damaging	1.00
R4695:Pcdhgb2	UTSW	18	37692322	missense	probably benign	0.00
R4741:Pcdhgb2	UTSW	18	37691684	splice site	probably null
R4824:Pcdhgb2	UTSW	18	37690449	missense	probably damaging	1.00
R4852:Pcdhgb2	UTSW	18	37692050	missense	probably damaging	1.00
R4858:Pcdhgb2	UTSW	18	37692100	missense	probably benign	0.22
R4933:Pcdhgb2	UTSW	18	37692214	missense	probably benign	0.07
R5240:Pcdhgb2	UTSW	18	37691050	missense	possibly damaging	0.87
R5791:Pcdhgb2	UTSW	18	37692340	missense	possibly damaging	0.92
R5973:Pcdhgb2	UTSW	18	37690507	missense	probably benign	0.00
R6059:Pcdhgb2	UTSW	18	37690025	nonsense	probably null
R6217:Pcdhgb2	UTSW	18	37690001	missense	possibly damaging	0.71
R6903:Pcdhgb2	UTSW	18	37692170	missense	possibly damaging	0.94
R6953:Pcdhgb2	UTSW	18	37690754	missense	possibly damaging	0.95
R7150:Pcdhgb2	UTSW	18	37692247	missense	possibly damaging	0.89
R7214:Pcdhgb2	UTSW	18	37690106	missense	probably damaging	1.00
R7453:Pcdhgb2	UTSW	18	37691015	missense	probably damaging	0.96
R7728:Pcdhgb2	UTSW	18	37691207	missense	probably damaging	1.00
R7754:Pcdhgb2	UTSW	18	37689970	missense	probably benign	0.23
R7846:Pcdhgb2	UTSW	18	37692220	missense	possibly damaging	0.88
R8079:Pcdhgb2	UTSW	18	37690763	missense	probably damaging	1.00
R8438:Pcdhgb2	UTSW	18	37692179	missense	probably benign	0.20
R8873:Pcdhgb2	UTSW	18	37691288	missense	probably damaging	0.98
R9655:Pcdhgb2	UTSW	18	37690232	missense	probably damaging	1.00
Z1177:Pcdhgb2	UTSW	18	37692148	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGATCCAGCCCTCGATTTAG -3'
(R):5'- TGTTCATCCACATTGTGAAAAGCG -3'

Sequencing Primer
(F):5'- CAGCCCTCGATTTAGATGCTGG -3'
(R):5'- GTAGGTGATTTCTGCATTGACACCC -3'

Posted On

2020-01-23