Mutagenetix > Incidental Mutation

Incidental Mutation 'R1344:Pcdhb2'

200779

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb2

Ensembl Gene

ENSMUSG00000051599

Gene Name

protocadherin beta 2

Synonyms

PcdhbB

MMRRC Submission

039409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1344 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37427893-37430667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37428710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 228 (V228I)

Ref Sequence

ENSEMBL: ENSMUSP00000057921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]

AlphaFold

Q91Y00

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056522
AA Change: V228I

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: V228I

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	32	114	5.2e-33	PFAM
CA	157	242	1.74e-19	SMART
CA	266	347	5.99e-23	SMART
CA	370	451	1.16e-20	SMART
CA	475	561	5.94e-27	SMART
CA	591	672	2.03e-11	SMART
Pfam:Cadherin_C_2	688	771	3.5e-26	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: ENSMUST00000193137

SMART Domains

Protein: ENSMUSP00000141439
Gene: ENSMUSG00000051599

Domain	Start	End	E-Value	Type
CA	13	94	1.8e-22	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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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 beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Aco1	T	C	4: 40,179,008 (GRCm39)	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Asxl2	A	G	12: 3,543,790 (GRCm39)	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
B4galnt2	A	C	11: 95,760,181 (GRCm39)	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,853,288 (GRCm39)	I191T	probably benign	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cd109	A	T	9: 78,579,832 (GRCm39)		probably null	Het
Cdc34	G	A	10: 79,521,134 (GRCm39)	A128T	probably damaging	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,606,837 (GRCm39)	K529*	probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dlec1	G	A	9: 118,959,085 (GRCm39)	E910K	probably benign	Het
Dnajc19	T	A	3: 34,112,161 (GRCm39)	N128I	probably damaging	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Eea1	G	A	10: 95,830,861 (GRCm39)		probably null	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Extl1	T	C	4: 134,086,552 (GRCm39)	D501G	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Fxr2	A	G	11: 69,539,710 (GRCm39)	H247R	possibly damaging	Het
Gask1a	A	T	9: 121,807,452 (GRCm39)	H532L	probably damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Helz2	T	C	2: 180,879,389 (GRCm39)	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Ifitm1	C	T	7: 140,548,263 (GRCm39)	T32M	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lrit2	A	G	14: 36,790,513 (GRCm39)	N64S	probably benign	Het
Lsm14a	A	T	7: 34,052,982 (GRCm39)	D322E	probably damaging	Het
Macf1	T	G	4: 123,327,246 (GRCm39)	R4752S	probably damaging	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,226,556 (GRCm39)	T1360S	probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Myh3	A	G	11: 66,983,158 (GRCm39)	E895G	probably benign	Het
Ncan	A	C	8: 70,560,819 (GRCm39)	I716R	probably benign	Het
Ncor2	C	T	5: 125,102,510 (GRCm39)	R1867K	probably damaging	Het
Oas1d	C	T	5: 121,052,959 (GRCm39)	L5F	probably damaging	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or11h4b	T	A	14: 50,918,315 (GRCm39)	M259L	probably benign	Het
Or13a17	T	C	7: 140,271,712 (GRCm39)	V298A	probably damaging	Het
Or3a4	A	T	11: 73,945,038 (GRCm39)	C182*	probably null	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,338,752 (GRCm39)	I27V	probably benign	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Piezo2	T	A	18: 63,154,325 (GRCm39)	I2485F	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plscr1	C	T	9: 92,141,357 (GRCm39)	T15I	unknown	Het
Rd3	T	C	1: 191,717,262 (GRCm39)	*106R	probably null	Het
Rnf125	A	G	18: 21,114,288 (GRCm39)	I97V	possibly damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Sf3b3	G	C	8: 111,564,935 (GRCm39)	A291G	probably damaging	Het
Simc1	T	C	13: 54,698,292 (GRCm39)	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slco1a8	A	G	6: 141,931,344 (GRCm39)	S474P	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Speer4a3	T	A	5: 26,158,107 (GRCm39)	T82S	probably benign	Het
Stoml2	T	A	4: 43,028,197 (GRCm39)	I344F	probably benign	Het
Tet1	C	T	10: 62,650,300 (GRCm39)	R1636H	probably damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Ust	C	A	10: 8,173,954 (GRCm39)	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,511,563 (GRCm39)	C421Y	probably damaging	Het

Other mutations in Pcdhb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Pcdhb2	APN	18	37,429,516 (GRCm39)	splice site	probably null
IGL01538:Pcdhb2	APN	18	37,428,375 (GRCm39)	nonsense	probably null
IGL01716:Pcdhb2	APN	18	37,429,791 (GRCm39)	missense	probably damaging	0.99
IGL01747:Pcdhb2	APN	18	37,429,356 (GRCm39)	missense	probably damaging	1.00
IGL01770:Pcdhb2	APN	18	37,429,356 (GRCm39)	missense	probably damaging	1.00
IGL01999:Pcdhb2	APN	18	37,429,890 (GRCm39)	missense	probably damaging	1.00
IGL02174:Pcdhb2	APN	18	37,429,551 (GRCm39)	missense	probably damaging	1.00
IGL02325:Pcdhb2	APN	18	37,429,733 (GRCm39)	missense	possibly damaging	0.91
IGL03148:Pcdhb2	APN	18	37,429,831 (GRCm39)	missense	probably damaging	1.00
IGL03263:Pcdhb2	APN	18	37,429,059 (GRCm39)	missense	probably damaging	1.00
R0158:Pcdhb2	UTSW	18	37,430,283 (GRCm39)	missense	probably damaging	1.00
R0512:Pcdhb2	UTSW	18	37,429,032 (GRCm39)	missense	probably damaging	1.00
R0656:Pcdhb2	UTSW	18	37,428,543 (GRCm39)	missense	probably damaging	1.00
R0670:Pcdhb2	UTSW	18	37,429,701 (GRCm39)	missense	probably damaging	1.00
R0698:Pcdhb2	UTSW	18	37,430,419 (GRCm39)	missense	probably benign	0.00
R0825:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0827:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0862:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0863:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R1440:Pcdhb2	UTSW	18	37,429,343 (GRCm39)	missense	probably benign	0.22
R1826:Pcdhb2	UTSW	18	37,429,038 (GRCm39)	missense	probably damaging	0.99
R1828:Pcdhb2	UTSW	18	37,429,038 (GRCm39)	missense	probably damaging	0.99
R1869:Pcdhb2	UTSW	18	37,430,408 (GRCm39)	splice site	probably null
R1871:Pcdhb2	UTSW	18	37,430,408 (GRCm39)	splice site	probably null
R2292:Pcdhb2	UTSW	18	37,430,297 (GRCm39)	splice site	probably null
R3743:Pcdhb2	UTSW	18	37,429,470 (GRCm39)	missense	probably damaging	1.00
R4067:Pcdhb2	UTSW	18	37,430,367 (GRCm39)	splice site	probably null
R4127:Pcdhb2	UTSW	18	37,428,594 (GRCm39)	missense	probably damaging	0.97
R4402:Pcdhb2	UTSW	18	37,428,455 (GRCm39)	missense	probably benign	0.05
R4579:Pcdhb2	UTSW	18	37,429,168 (GRCm39)	missense	probably damaging	1.00
R4621:Pcdhb2	UTSW	18	37,428,980 (GRCm39)	missense	probably benign	0.44
R4678:Pcdhb2	UTSW	18	37,429,260 (GRCm39)	missense	probably damaging	1.00
R5143:Pcdhb2	UTSW	18	37,429,785 (GRCm39)	missense	probably damaging	1.00
R5152:Pcdhb2	UTSW	18	37,429,179 (GRCm39)	missense	probably damaging	0.97
R6552:Pcdhb2	UTSW	18	37,429,046 (GRCm39)	missense	probably benign
R6908:Pcdhb2	UTSW	18	37,429,577 (GRCm39)	missense	probably damaging	1.00
R6973:Pcdhb2	UTSW	18	37,429,416 (GRCm39)	missense	probably benign	0.03
R7143:Pcdhb2	UTSW	18	37,428,934 (GRCm39)	missense	probably benign	0.05
R7248:Pcdhb2	UTSW	18	37,429,547 (GRCm39)	missense	probably damaging	1.00
R7586:Pcdhb2	UTSW	18	37,428,857 (GRCm39)	nonsense	probably null
R7634:Pcdhb2	UTSW	18	37,428,000 (GRCm39)	intron	probably benign
R7796:Pcdhb2	UTSW	18	37,428,446 (GRCm39)	missense	possibly damaging	0.63
R7862:Pcdhb2	UTSW	18	37,429,113 (GRCm39)	missense	probably benign	0.25
R8415:Pcdhb2	UTSW	18	37,429,110 (GRCm39)	missense	probably damaging	0.97
R8950:Pcdhb2	UTSW	18	37,429,715 (GRCm39)	missense	probably damaging	1.00
R9351:Pcdhb2	UTSW	18	37,429,369 (GRCm39)	missense	probably damaging	1.00
R9360:Pcdhb2	UTSW	18	37,429,551 (GRCm39)	missense	probably damaging	1.00
R9592:Pcdhb2	UTSW	18	37,429,266 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAAGCAACGGTCTCCAAACTTAC -3'
(R):5'- CCGGATGTTGCATTCATTCGAAACG -3'

Sequencing Primer
(F):5'- CGGTCTCCAAACTTACACAATC -3'
(R):5'- ACGTTTTCCGAATGTCTTCAGAG -3'

Posted On

2014-05-23