Mutagenetix > Incidental Mutation

Incidental Mutation 'R1928:Pcdhb1'

215119

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb1

Ensembl Gene

ENSMUSG00000051663

Gene Name

protocadherin beta 1

Synonyms

PcdhbA

MMRRC Submission

039946-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R1928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37397991-37400578 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 37399233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 395 (K395*)

Ref Sequence

ENSEMBL: ENSMUSP00000057519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052366] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y08

Predicted Effect

probably null
Transcript: ENSMUST00000052366
AA Change: K395*

SMART Domains

Protein: ENSMUSP00000057519
Gene: ENSMUSG00000051663
AA Change: K395*

Domain	Start	End	E-Value	Type
CA	45	131	1.04e-1	SMART
CA	155	240	1.23e-19	SMART
CA	264	345	8.4e-27	SMART
CA	369	450	5.31e-15	SMART
CA	474	560	6.27e-26	SMART
CA	590	671	6.05e-10	SMART
Pfam:Cadherin_C_2	687	772	4.7e-18	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

0.9658

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

98% (120/123)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	G	6: 132,603,564 (GRCm39)	Q64P	unknown	Het
Adgrv1	A	T	13: 81,668,905 (GRCm39)	F1830L	probably benign	Het
Anks3	C	T	16: 4,763,918 (GRCm39)		probably null	Het
Aqp12	G	A	1: 92,934,332 (GRCm39)	D70N	probably damaging	Het
B4galnt4	C	T	7: 140,648,061 (GRCm39)	R526*	probably null	Het
Best2	A	G	8: 85,737,882 (GRCm39)	F171S	probably benign	Het
C2cd5	A	T	6: 142,958,956 (GRCm39)	V965D	probably damaging	Het
Cd33	T	C	7: 43,179,303 (GRCm39)	E282G	probably benign	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chd6	A	T	2: 160,809,920 (GRCm39)		probably benign	Het
Clec4d	A	T	6: 123,244,120 (GRCm39)		probably null	Het
Cntd1	C	T	11: 101,174,678 (GRCm39)	S128L	probably damaging	Het
Col19a1	T	C	1: 24,490,835 (GRCm39)		probably benign	Het
Ctrb1	C	A	8: 112,415,324 (GRCm39)	V117L	probably benign	Het
Dclk1	T	C	3: 55,154,942 (GRCm39)	V124A	possibly damaging	Het
Dcp2	T	C	18: 44,538,638 (GRCm39)		probably null	Het
Dctn1	C	A	6: 83,176,166 (GRCm39)		probably benign	Het
Dennd11	A	G	6: 40,388,648 (GRCm39)	F238L	probably benign	Het
Ephb3	T	A	16: 21,041,045 (GRCm39)	M701K	possibly damaging	Het
Ero1b	A	G	13: 12,616,648 (GRCm39)	E359G	probably damaging	Het
Exosc8	G	T	3: 54,636,266 (GRCm39)	A255E	probably damaging	Het
Fhip1a	G	A	3: 85,595,838 (GRCm39)	P349L	probably damaging	Het
Fndc3c1	C	T	X: 105,477,128 (GRCm39)	A824T	probably benign	Het
Gja10	G	A	4: 32,601,812 (GRCm39)	Q191*	probably null	Het
Gm1587	C	T	14: 78,036,288 (GRCm39)	R6Q	unknown	Het
Gm3409	A	G	5: 146,476,418 (GRCm39)	I190V	probably benign	Het
Gm4952	G	T	19: 12,600,973 (GRCm39)	M64I	probably damaging	Het
Gramd1b	C	T	9: 40,217,765 (GRCm39)	M595I	possibly damaging	Het
Grik1	C	T	16: 87,848,241 (GRCm39)	V176M	probably damaging	Het
Grin2b	A	G	6: 136,021,044 (GRCm39)	C86R	probably damaging	Het
Gtse1	C	T	15: 85,746,264 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,589,719 (GRCm39)	Y615H	probably damaging	Het
Hydin	T	C	8: 111,229,579 (GRCm39)	F1552S	possibly damaging	Het
Ifi207	A	G	1: 173,557,211 (GRCm39)	V516A	possibly damaging	Het
Igfbp5	G	T	1: 72,913,184 (GRCm39)	P39T	probably damaging	Het
Il23r	T	A	6: 67,400,719 (GRCm39)	D537V	possibly damaging	Het
Invs	A	G	4: 48,390,095 (GRCm39)	Y251C	probably damaging	Het
Isl1	G	T	13: 116,444,953 (GRCm39)	H25Q	probably damaging	Het
Kif13a	A	G	13: 46,966,221 (GRCm39)	L399P	probably damaging	Het
Klhl1	A	G	14: 96,584,225 (GRCm39)	V335A	probably benign	Het
Klhl14	C	A	18: 21,784,843 (GRCm39)	A195S	probably damaging	Het
Lepr	A	G	4: 101,639,927 (GRCm39)		probably benign	Het
Map1b	A	C	13: 99,567,454 (GRCm39)	S1756A	unknown	Het
Med23	C	T	10: 24,785,710 (GRCm39)	A877V	probably benign	Het
Mfsd4b2	T	C	10: 39,797,458 (GRCm39)	Y299C	probably damaging	Het
Mipol1	T	A	12: 57,379,205 (GRCm39)	M221K	probably damaging	Het
Muc4	A	T	16: 32,569,350 (GRCm39)	S137C	probably damaging	Het
Mutyh	T	C	4: 116,673,855 (GRCm39)	Y189H	probably damaging	Het
Nabp2	T	C	10: 128,245,182 (GRCm39)	T21A	possibly damaging	Het
Nalf1	T	C	8: 9,820,217 (GRCm39)	T268A	probably benign	Het
Nell1	T	A	7: 50,350,943 (GRCm39)	V530E	possibly damaging	Het
Npc1	G	C	18: 12,346,435 (GRCm39)	P254A	possibly damaging	Het
Nup153	A	G	13: 46,854,502 (GRCm39)	V530A	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or10j5	T	C	1: 172,784,881 (GRCm39)	V173A	probably damaging	Het
Or11h4b	A	G	14: 50,918,872 (GRCm39)	V73A	probably benign	Het
Or7e177	T	C	9: 20,212,354 (GRCm39)	V287A	probably benign	Het
Pabpc1l	T	A	2: 163,874,174 (GRCm39)	I193N	possibly damaging	Het
Pabpc4l	A	G	3: 46,401,066 (GRCm39)	Y193H	probably damaging	Het
Pank1	T	C	19: 34,856,281 (GRCm39)	S66G	probably benign	Het
Pcna	A	G	2: 132,093,817 (GRCm39)		probably benign	Het
Pgr	T	A	9: 8,903,630 (GRCm39)	Y550*	probably null	Het
Phf11a	A	G	14: 59,519,316 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,151,524 (GRCm39)		probably benign	Het
Pofut2	T	A	10: 77,096,642 (GRCm39)	Y122*	probably null	Het
Pole	A	G	5: 110,475,644 (GRCm39)	M1818V	probably benign	Het
Rapgef3	A	G	15: 97,647,914 (GRCm39)	L696P	probably damaging	Het
Rasal3	T	C	17: 32,616,327 (GRCm39)	D310G	probably damaging	Het
Rhoq	A	G	17: 87,302,486 (GRCm39)	K141E	probably benign	Het
Rilpl1	A	G	5: 124,652,813 (GRCm39)		probably benign	Het
Rnaseh1	T	C	12: 28,703,088 (GRCm39)	S91P	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Saa1	C	A	7: 46,391,856 (GRCm39)	G31W	probably null	Het
Saxo5	T	A	8: 3,536,947 (GRCm39)	I431K	possibly damaging	Het
Scaf8	A	G	17: 3,218,352 (GRCm39)	T241A	unknown	Het
Scarb2	C	T	5: 92,592,125 (GRCm39)	A473T	possibly damaging	Het
Scnn1b	T	C	7: 121,509,670 (GRCm39)	F273S	probably damaging	Het
Sdccag8	T	C	1: 176,656,536 (GRCm39)	V136A	probably damaging	Het
Sdr16c6	A	T	4: 4,069,926 (GRCm39)	V138E	probably damaging	Het
Sf3a3	G	A	4: 124,615,886 (GRCm39)	A180T	possibly damaging	Het
Slc16a5	T	A	11: 115,360,842 (GRCm39)	S342T	probably damaging	Het
Slc18a1	A	G	8: 69,526,464 (GRCm39)	S75P	probably benign	Het
Slc7a6	T	A	8: 106,920,120 (GRCm39)		probably benign	Het
Smco3	G	A	6: 136,808,845 (GRCm39)	Q10*	probably null	Het
Spem2	T	C	11: 69,708,290 (GRCm39)	Q225R	probably benign	Het
Ssb	G	T	2: 69,697,901 (GRCm39)		probably null	Het
Stx8	T	C	11: 68,000,106 (GRCm39)	I182T	probably damaging	Het
Synj2	T	A	17: 6,040,542 (GRCm39)	I121N	probably damaging	Het
Tbc1d1	T	C	5: 64,502,643 (GRCm39)	Y1055H	probably damaging	Het
Thbs3	G	T	3: 89,125,067 (GRCm39)	R52L	probably damaging	Het
Tmem101	C	T	11: 102,044,222 (GRCm39)	V222I	probably benign	Het
Tnks2	C	T	19: 36,823,068 (GRCm39)	Q112*	probably null	Het
Tnrc6b	T	A	15: 80,764,924 (GRCm39)	W809R	probably damaging	Het
Trib2	T	A	12: 15,865,454 (GRCm39)	R16S	probably damaging	Het
Trim12a	T	C	7: 103,956,331 (GRCm39)	N70D	probably damaging	Het
Trim55	T	A	3: 19,716,046 (GRCm39)		probably null	Het
Tspyl5	T	A	15: 33,687,153 (GRCm39)	D264V	probably damaging	Het
Ttn	A	G	2: 76,555,388 (GRCm39)	V30539A	probably damaging	Het
Tubgcp3	A	G	8: 12,713,988 (GRCm39)	F43S	possibly damaging	Het
Tut7	A	G	13: 59,964,548 (GRCm39)	L209P	probably damaging	Het
Ube3d	A	G	9: 86,305,056 (GRCm39)	L262P	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,651 (GRCm39)	V270A	probably benign	Het
Vav3	T	A	3: 109,413,738 (GRCm39)	F225L	possibly damaging	Het
Vmn1r21	G	T	6: 57,821,077 (GRCm39)	Y122*	probably null	Het
Vmn1r225	C	A	17: 20,723,071 (GRCm39)	Q171K	probably benign	Het
Vmn2r103	T	C	17: 20,032,029 (GRCm39)	V601A	possibly damaging	Het
Vmn2r19	T	A	6: 123,308,589 (GRCm39)	N555K	probably damaging	Het
Vps33a	G	A	5: 123,696,684 (GRCm39)	A323V	probably benign	Het
Wdr77	C	T	3: 105,874,618 (GRCm39)	P337S	probably benign	Het
Wnk1	A	T	6: 119,929,884 (GRCm39)	I93N	probably damaging	Het
Zbtb9	T	A	17: 27,193,612 (GRCm39)	I339N	probably damaging	Het
Zfp202	T	A	9: 40,121,083 (GRCm39)	D241E	probably damaging	Het
Zfp235	T	A	7: 23,840,563 (GRCm39)	Y327*	probably null	Het
Zfp820	A	C	17: 22,038,316 (GRCm39)	D337E	probably benign	Het
Zfp944	T	C	17: 22,560,065 (GRCm39)	T14A	probably damaging	Het
Zfy1	A	G	Y: 729,733 (GRCm39)	V303A	unknown	Het
Zfyve26	C	T	12: 79,286,744 (GRCm39)	W2281*	probably null	Het

Other mutations in Pcdhb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Pcdhb1	APN	18	37,400,395 (GRCm39)	missense	probably benign	0.06
IGL01622:Pcdhb1	APN	18	37,399,366 (GRCm39)	missense	possibly damaging	0.73
IGL01623:Pcdhb1	APN	18	37,399,366 (GRCm39)	missense	possibly damaging	0.73
IGL01663:Pcdhb1	APN	18	37,400,186 (GRCm39)	missense	possibly damaging	0.83
IGL01665:Pcdhb1	APN	18	37,400,450 (GRCm39)	missense	probably benign	0.01
IGL01780:Pcdhb1	APN	18	37,399,575 (GRCm39)	missense	probably damaging	1.00
IGL02121:Pcdhb1	APN	18	37,398,838 (GRCm39)	missense	probably benign	0.06
IGL02468:Pcdhb1	APN	18	37,399,231 (GRCm39)	missense	probably benign	0.21
IGL02602:Pcdhb1	APN	18	37,399,849 (GRCm39)	missense	probably damaging	1.00
K3955:Pcdhb1	UTSW	18	37,399,026 (GRCm39)	missense	probably damaging	1.00
R0242:Pcdhb1	UTSW	18	37,399,788 (GRCm39)	missense	probably benign	0.17
R0242:Pcdhb1	UTSW	18	37,399,788 (GRCm39)	missense	probably benign	0.17
R0329:Pcdhb1	UTSW	18	37,400,077 (GRCm39)	missense	possibly damaging	0.59
R0627:Pcdhb1	UTSW	18	37,398,774 (GRCm39)	missense	probably damaging	1.00
R0848:Pcdhb1	UTSW	18	37,400,475 (GRCm39)	missense	probably benign	0.00
R1187:Pcdhb1	UTSW	18	37,398,597 (GRCm39)	missense	probably damaging	1.00
R1290:Pcdhb1	UTSW	18	37,398,283 (GRCm39)	missense	possibly damaging	0.54
R1957:Pcdhb1	UTSW	18	37,398,760 (GRCm39)	missense	probably damaging	1.00
R2897:Pcdhb1	UTSW	18	37,399,516 (GRCm39)	missense	probably damaging	1.00
R2898:Pcdhb1	UTSW	18	37,399,516 (GRCm39)	missense	probably damaging	1.00
R3037:Pcdhb1	UTSW	18	37,398,166 (GRCm39)	missense	probably damaging	1.00
R4193:Pcdhb1	UTSW	18	37,400,199 (GRCm39)	missense	probably damaging	0.99
R4291:Pcdhb1	UTSW	18	37,398,470 (GRCm39)	missense	probably damaging	1.00
R4308:Pcdhb1	UTSW	18	37,399,714 (GRCm39)	missense	probably benign	0.00
R4332:Pcdhb1	UTSW	18	37,398,583 (GRCm39)	missense	probably damaging	1.00
R4606:Pcdhb1	UTSW	18	37,398,581 (GRCm39)	nonsense	probably null
R4637:Pcdhb1	UTSW	18	37,398,802 (GRCm39)	missense	possibly damaging	0.95
R5159:Pcdhb1	UTSW	18	37,399,416 (GRCm39)	missense	possibly damaging	0.89
R5207:Pcdhb1	UTSW	18	37,399,515 (GRCm39)	missense	probably damaging	1.00
R5211:Pcdhb1	UTSW	18	37,399,704 (GRCm39)	missense	probably benign	0.06
R5273:Pcdhb1	UTSW	18	37,398,766 (GRCm39)	missense	probably benign	0.23
R5335:Pcdhb1	UTSW	18	37,400,308 (GRCm39)	missense	probably benign	0.00
R5398:Pcdhb1	UTSW	18	37,399,207 (GRCm39)	missense	probably damaging	1.00
R5452:Pcdhb1	UTSW	18	37,398,811 (GRCm39)	missense	possibly damaging	0.94
R5837:Pcdhb1	UTSW	18	37,398,880 (GRCm39)	missense	possibly damaging	0.57
R5882:Pcdhb1	UTSW	18	37,400,230 (GRCm39)	missense	probably benign	0.05
R5947:Pcdhb1	UTSW	18	37,399,726 (GRCm39)	missense	possibly damaging	0.74
R6109:Pcdhb1	UTSW	18	37,398,306 (GRCm39)	missense	possibly damaging	0.69
R7052:Pcdhb1	UTSW	18	37,399,582 (GRCm39)	missense	probably damaging	1.00
R7082:Pcdhb1	UTSW	18	37,400,044 (GRCm39)	missense	probably damaging	0.99
R7137:Pcdhb1	UTSW	18	37,400,445 (GRCm39)	missense	possibly damaging	0.69
R7229:Pcdhb1	UTSW	18	37,399,740 (GRCm39)	missense	probably damaging	1.00
R7392:Pcdhb1	UTSW	18	37,398,171 (GRCm39)	missense	possibly damaging	0.95
R7993:Pcdhb1	UTSW	18	37,400,044 (GRCm39)	missense	probably damaging	1.00
R8704:Pcdhb1	UTSW	18	37,399,402 (GRCm39)	missense	possibly damaging	0.51
R9498:Pcdhb1	UTSW	18	37,398,516 (GRCm39)	missense	probably damaging	0.99
R9703:Pcdhb1	UTSW	18	37,399,019 (GRCm39)	missense	probably damaging	1.00
R9757:Pcdhb1	UTSW	18	37,400,302 (GRCm39)	missense	probably benign	0.24
T0970:Pcdhb1	UTSW	18	37,399,026 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAAGTCTTGGTGGAAGTG -3'
(R):5'- GTTTTCACGAACAGTCAAGACG -3'

Sequencing Primer
(F):5'- GGTGGATGTTAACGACAATCCTCC -3'
(R):5'- AGTCAAGACGTAGGAATCCTCCTG -3'

Posted On

2014-07-14