Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Pcdhb5'

33010

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb5

Ensembl Gene

ENSMUSG00000063687

Gene Name

protocadherin beta 5

Synonyms

PcdhbE, Pcdhb4A

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R0047 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

37453434-37456966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37454321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 234 (I234F)

Ref Sequence

ENSEMBL: ENSMUSP00000077389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078271] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91XZ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078271
AA Change: I234F

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: I234F

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	46	130	1.55e0	SMART
CA	154	239	2.42e-18	SMART
CA	263	344	1.27e-26	SMART
CA	367	448	1.14e-23	SMART
CA	472	558	2.38e-26	SMART
CA	588	669	7.06e-11	SMART
Pfam:Cadherin_C_2	686	769	3.1e-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: 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

0.2291

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,460,168 (GRCm39)	I395V	probably benign	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,591,379 (GRCm39)	K555R	probably benign	Het
Arhgap35	A	T	7: 16,295,917 (GRCm39)	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,242,555 (GRCm39)		probably null	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,109,733 (GRCm39)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Camk2g	G	A	14: 20,821,136 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Cdkl4	T	G	17: 80,858,274 (GRCm39)	N115T	probably benign	Het
Chchd1	T	C	14: 20,754,231 (GRCm39)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,022,573 (GRCm39)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Crh	T	C	3: 19,748,201 (GRCm39)	E147G	probably damaging	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Dctn1	G	T	6: 83,159,614 (GRCm39)	G31*	probably null	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Ffar4	A	G	19: 38,102,452 (GRCm39)		probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Hrc	T	A	7: 44,986,113 (GRCm39)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Insr	A	G	8: 3,252,947 (GRCm39)	V404A	probably damaging	Het
Irak2	G	T	6: 113,649,914 (GRCm39)		probably benign	Het
Irak2	G	A	6: 113,655,699 (GRCm39)	V367I	probably benign	Het
Kat7	A	C	11: 95,191,034 (GRCm39)	N119K	probably benign	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Klf17	A	G	4: 117,618,229 (GRCm39)	Y43H	probably benign	Het
Kng2	T	A	16: 22,806,313 (GRCm39)	T629S	possibly damaging	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Lrp12	T	C	15: 39,741,635 (GRCm39)	E360G	probably damaging	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,300,814 (GRCm39)	L72*	probably null	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Or5h18	T	A	16: 58,847,587 (GRCm39)	M228L	probably benign	Het
Or5p80	A	G	7: 108,229,759 (GRCm39)	I187V	probably benign	Het
Pgm5	T	A	19: 24,661,920 (GRCm39)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rtel1	T	G	2: 180,965,198 (GRCm39)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,206,543 (GRCm39)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx13	C	A	12: 35,151,123 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tbx3	A	T	5: 119,818,511 (GRCm39)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trim26	T	C	17: 37,168,756 (GRCm39)		probably benign	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,460,858 (GRCm39)	V728A	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,146,795 (GRCm39)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	probably damaging	Het
Zan	A	G	5: 137,401,918 (GRCm39)	M4058T	unknown	Het
Zfp236	C	T	18: 82,698,817 (GRCm39)	C88Y	probably damaging	Het

Other mutations in Pcdhb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Pcdhb5	APN	18	37,455,162 (GRCm39)	missense	probably damaging	1.00
IGL00895:Pcdhb5	APN	18	37,454,036 (GRCm39)	missense	probably benign	0.42
IGL00896:Pcdhb5	APN	18	37,455,838 (GRCm39)	splice site	probably null
IGL01385:Pcdhb5	APN	18	37,455,267 (GRCm39)	missense	probably benign	0.00
IGL01619:Pcdhb5	APN	18	37,455,992 (GRCm39)	missense	probably damaging	1.00
IGL01712:Pcdhb5	APN	18	37,454,306 (GRCm39)	missense	probably damaging	1.00
IGL01716:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01719:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01720:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01723:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01724:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01839:Pcdhb5	APN	18	37,454,502 (GRCm39)	missense	probably damaging	0.98
IGL01884:Pcdhb5	APN	18	37,454,387 (GRCm39)	missense	probably benign	0.00
IGL01962:Pcdhb5	APN	18	37,454,093 (GRCm39)	missense	probably damaging	1.00
IGL02088:Pcdhb5	APN	18	37,455,012 (GRCm39)	missense	probably benign	0.11
IGL02299:Pcdhb5	APN	18	37,453,943 (GRCm39)	missense	probably benign
IGL02444:Pcdhb5	APN	18	37,454,103 (GRCm39)	missense	probably benign	0.01
IGL03372:Pcdhb5	APN	18	37,453,713 (GRCm39)	missense	probably benign	0.22
R0034:Pcdhb5	UTSW	18	37,455,137 (GRCm39)	missense	probably damaging	1.00
R0179:Pcdhb5	UTSW	18	37,455,612 (GRCm39)	missense	probably damaging	1.00
R0466:Pcdhb5	UTSW	18	37,455,596 (GRCm39)	missense	probably damaging	1.00
R0471:Pcdhb5	UTSW	18	37,454,359 (GRCm39)	nonsense	probably null
R0565:Pcdhb5	UTSW	18	37,453,820 (GRCm39)	missense	possibly damaging	0.91
R0646:Pcdhb5	UTSW	18	37,454,675 (GRCm39)	missense	probably benign
R1014:Pcdhb5	UTSW	18	37,455,303 (GRCm39)	missense	probably damaging	1.00
R1617:Pcdhb5	UTSW	18	37,454,455 (GRCm39)	nonsense	probably null
R1676:Pcdhb5	UTSW	18	37,453,805 (GRCm39)	missense	probably benign	0.01
R1774:Pcdhb5	UTSW	18	37,455,725 (GRCm39)	missense	probably damaging	0.99
R1826:Pcdhb5	UTSW	18	37,454,522 (GRCm39)	nonsense	probably null
R1854:Pcdhb5	UTSW	18	37,455,393 (GRCm39)	missense	possibly damaging	0.94
R2355:Pcdhb5	UTSW	18	37,455,169 (GRCm39)	missense	probably benign
R4290:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4292:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4293:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4294:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4295:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4391:Pcdhb5	UTSW	18	37,455,789 (GRCm39)	missense	possibly damaging	0.88
R4411:Pcdhb5	UTSW	18	37,455,050 (GRCm39)	missense	possibly damaging	0.80
R4480:Pcdhb5	UTSW	18	37,453,805 (GRCm39)	missense	probably benign	0.43
R4852:Pcdhb5	UTSW	18	37,455,524 (GRCm39)	missense	probably benign	0.04
R5121:Pcdhb5	UTSW	18	37,454,170 (GRCm39)	missense	probably benign	0.11
R5133:Pcdhb5	UTSW	18	37,453,943 (GRCm39)	missense	probably benign
R5630:Pcdhb5	UTSW	18	37,454,208 (GRCm39)	missense	possibly damaging	0.88
R5833:Pcdhb5	UTSW	18	37,454,155 (GRCm39)	missense	probably damaging	0.99
R5896:Pcdhb5	UTSW	18	37,455,732 (GRCm39)	nonsense	probably null
R5942:Pcdhb5	UTSW	18	37,453,838 (GRCm39)	nonsense	probably null
R5945:Pcdhb5	UTSW	18	37,454,523 (GRCm39)	missense	probably benign	0.08
R5970:Pcdhb5	UTSW	18	37,454,826 (GRCm39)	missense	probably damaging	1.00
R6045:Pcdhb5	UTSW	18	37,454,628 (GRCm39)	missense	probably damaging	1.00
R6054:Pcdhb5	UTSW	18	37,454,133 (GRCm39)	missense	probably damaging	0.98
R6147:Pcdhb5	UTSW	18	37,453,779 (GRCm39)	missense	probably damaging	1.00
R6152:Pcdhb5	UTSW	18	37,455,886 (GRCm39)	nonsense	probably null
R6193:Pcdhb5	UTSW	18	37,455,080 (GRCm39)	missense	probably damaging	1.00
R6397:Pcdhb5	UTSW	18	37,454,558 (GRCm39)	missense	probably benign	0.08
R6505:Pcdhb5	UTSW	18	37,453,933 (GRCm39)	missense	probably benign	0.00
R6608:Pcdhb5	UTSW	18	37,454,876 (GRCm39)	missense	probably damaging	0.98
R6737:Pcdhb5	UTSW	18	37,455,723 (GRCm39)	missense	probably damaging	1.00
R7146:Pcdhb5	UTSW	18	37,454,409 (GRCm39)	missense	probably damaging	1.00
R7162:Pcdhb5	UTSW	18	37,454,739 (GRCm39)	missense	probably benign	0.16
R7584:Pcdhb5	UTSW	18	37,455,425 (GRCm39)	missense	possibly damaging	0.90
R8214:Pcdhb5	UTSW	18	37,454,636 (GRCm39)	missense	probably benign	0.37
R8327:Pcdhb5	UTSW	18	37,453,953 (GRCm39)	missense	probably benign	0.00
R8676:Pcdhb5	UTSW	18	37,454,129 (GRCm39)	missense	probably benign	0.01
R9234:Pcdhb5	UTSW	18	37,453,695 (GRCm39)	missense	probably benign
R9424:Pcdhb5	UTSW	18	37,454,120 (GRCm39)	missense	probably damaging	1.00
R9505:Pcdhb5	UTSW	18	37,454,664 (GRCm39)	missense	possibly damaging	0.87
R9635:Pcdhb5	UTSW	18	37,454,510 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGCAGCAATGGGCTTCAACAATAC -3'
(R):5'- GCATTGTCGTTCACATCCAACACC -3'

Sequencing Primer
(F):5'- GGGCTTCAACAATACACAGTCAAC -3'
(R):5'- GTGGCCTCAATTTCTACATGGTAAG -3'

Posted On

2013-05-09