Mutagenetix > Incidental Mutation

Incidental Mutation 'R7354:Pcdhb22'

570848

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb22

Ensembl Gene

ENSMUSG00000073591

Gene Name

protocadherin beta 22

Synonyms

Pcdhb15, PcdhbV

MMRRC Submission

045440-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37651402-37657532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37653311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 336 (D336G)

Ref Sequence

ENSEMBL: ENSMUSP00000095214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061405] [ENSMUST00000097609] [ENSMUST00000115661] [ENSMUST00000192409] [ENSMUST00000194544]

AlphaFold

Q91XZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000061405

SMART Domains

Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Cadherin_2	30	110	4.2e-30	PFAM
CA	153	238	1.8e-17	SMART
CA	262	343	1.54e-25	SMART
CA	367	448	1.03e-21	SMART
CA	472	558	3.41e-27	SMART
CA	588	669	1.54e-11	SMART
Pfam:Cadherin_C_2	686	769	1.5e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097609
AA Change: D336G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591
AA Change: D336G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cadherin_2	28	110	5.8e-32	PFAM
CA	153	238	3.99e-19	SMART
CA	262	343	2.18e-25	SMART
CA	366	447	1.53e-20	SMART
CA	471	557	3.6e-26	SMART
CA	587	668	5.35e-11	SMART
Pfam:Cadherin_C_2	685	768	4.5e-28	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 damaging
Transcript: ENSMUST00000192409
AA Change: D593G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591
AA Change: D593G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cadherin_2	27	110	2.5e-32	PFAM
CA	153	238	3.99e-19	SMART
CA	262	343	2.18e-25	SMART
CA	366	447	1.53e-20	SMART
CA	471	557	3.6e-26	SMART
CA	587	668	5.35e-11	SMART
transmembrane domain	689	711	N/A	INTRINSIC

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

0.5114

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (82/82)

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
Ago3	T	A	4: 126,311,099 (GRCm39)	Q38L	possibly damaging	Het
Apon	T	A	10: 128,090,607 (GRCm39)	I95N	probably benign	Het
Arid1a	G	T	4: 133,421,258 (GRCm39)	P464Q	unknown	Het
Arid4b	A	G	13: 14,339,455 (GRCm39)	D503G	probably benign	Het
Asxl2	T	C	12: 3,505,637 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,048,028 (GRCm39)	V594D	probably damaging	Het
Begain	A	G	12: 108,999,215 (GRCm39)	F519L	possibly damaging	Het
Bora	A	G	14: 99,284,794 (GRCm39)	T15A	probably damaging	Het
Btbd7	A	T	12: 102,804,464 (GRCm39)	M192K	probably benign	Het
Ccdc125	T	G	13: 100,814,382 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,858,458 (GRCm39)	C1042Y	possibly damaging	Het
Cdcp3	G	T	7: 130,873,762 (GRCm39)	C1696F	unknown	Het
Cfap74	G	T	4: 155,549,804 (GRCm39)	V146L	unknown	Het
Crisp1	G	A	17: 40,630,071 (GRCm39)		probably benign	Het
Ctbp1	A	T	5: 33,407,732 (GRCm39)	H292Q	possibly damaging	Het
Defb5	T	A	8: 19,300,750 (GRCm39)	M34K	probably benign	Het
Dnajc27	A	G	12: 4,146,249 (GRCm39)	I93V	probably benign	Het
Dqx1	T	A	6: 83,037,957 (GRCm39)	Y448*	probably null	Het
Dynap	A	T	18: 70,374,371 (GRCm39)	C52S	possibly damaging	Het
Ehd4	C	A	2: 119,932,613 (GRCm39)	R271L	probably damaging	Het
Ercc2	T	G	7: 19,127,579 (GRCm39)	I619S	possibly damaging	Het
Etf1	A	G	18: 35,039,040 (GRCm39)	I409T	probably damaging	Het
Fam117a	A	G	11: 95,271,529 (GRCm39)	D367G	probably damaging	Het
Fancd2	A	G	6: 113,572,907 (GRCm39)	D1447G	unknown	Het
Fbxw9	T	C	8: 85,788,825 (GRCm39)	S192P	probably damaging	Het
Frzb	A	T	2: 80,277,153 (GRCm39)	L11Q	probably damaging	Het
Gm14496	T	C	2: 181,642,479 (GRCm39)	S717P	probably damaging	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gm4353	C	T	7: 115,683,146 (GRCm39)	R145Q	probably benign	Het
Gpr12	A	T	5: 146,520,772 (GRCm39)	V50D	probably damaging	Het
Hes1	T	C	16: 29,884,746 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,682,196 (GRCm39)	C451*	probably null	Het
Iars1	T	C	13: 49,857,796 (GRCm39)	V347A	probably benign	Het
Igfn1	A	G	1: 135,903,770 (GRCm39)	S323P	possibly damaging	Het
Itga6	G	A	2: 71,650,574 (GRCm39)	A207T	probably damaging	Het
Lgi4	T	A	7: 30,760,047 (GRCm39)	L81H	probably damaging	Het
Lrp1	T	C	10: 127,407,277 (GRCm39)	E1888G	probably damaging	Het
Man2a1	C	T	17: 65,059,539 (GRCm39)	T1142M	probably damaging	Het
Mdfic2	T	A	6: 98,215,242 (GRCm39)	D127V	probably damaging	Het
Mgam	A	T	6: 40,721,732 (GRCm39)	Y350F	probably damaging	Het
Miga1	T	C	3: 151,996,137 (GRCm39)	D351G	probably damaging	Het
Mro	A	G	18: 74,006,385 (GRCm39)	T111A	probably benign	Het
Mtrr	A	T	13: 68,714,326 (GRCm39)	V471E	probably damaging	Het
Myh3	C	A	11: 66,987,708 (GRCm39)	L1394I	probably damaging	Het
Myocd	A	G	11: 65,078,319 (GRCm39)	V492A	probably benign	Het
Nbeal2	A	G	9: 110,458,247 (GRCm39)	F2115S	probably damaging	Het
Nlrp1b	A	T	11: 71,072,376 (GRCm39)	M489K	possibly damaging	Het
Or12j5	A	C	7: 140,084,099 (GRCm39)	I91R	probably damaging	Het
Or14j7	A	G	17: 38,235,284 (GRCm39)	I276V	probably benign	Het
Or1e1c	A	T	11: 73,266,201 (GRCm39)	I212F	probably benign	Het
Or4c122	T	C	2: 89,079,031 (GRCm39)		probably null	Het
Or4k44	C	T	2: 111,367,909 (GRCm39)	A242T	possibly damaging	Het
Orc2	A	G	1: 58,508,906 (GRCm39)	S462P	possibly damaging	Het
Pcdh9	T	C	14: 94,125,706 (GRCm39)	T155A	probably benign	Het
Pcdhb16	G	A	18: 37,611,177 (GRCm39)	V46I	possibly damaging	Het
Pde4dip	T	A	3: 97,626,646 (GRCm39)	R1297S	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Plxnb2	A	G	15: 89,049,928 (GRCm39)	M531T	possibly damaging	Het
Poc5	T	C	13: 96,531,033 (GRCm39)	V77A	probably benign	Het
Recql5	G	A	11: 115,819,027 (GRCm39)	R180C	probably damaging	Het
Rho	C	A	6: 115,912,464 (GRCm39)	Y268*	probably null	Het
Riok1	A	T	13: 38,231,288 (GRCm39)	H182L	probably benign	Het
Rnf207	T	C	4: 152,398,548 (GRCm39)	D273G	probably damaging	Het
Serpinb11	A	G	1: 107,305,263 (GRCm39)	Y213C	probably benign	Het
Slc16a10	T	C	10: 39,952,951 (GRCm39)	Y181C	probably damaging	Het
Slc22a15	G	A	3: 101,771,897 (GRCm39)	H401Y	probably benign	Het
Slc5a5	C	A	8: 71,342,247 (GRCm39)	R268L	probably damaging	Het
Slc9a8	T	C	2: 167,316,051 (GRCm39)	F576S	possibly damaging	Het
Slx4	T	C	16: 3,804,963 (GRCm39)	E617G	probably benign	Het
Spata31d1e	A	T	13: 59,889,648 (GRCm39)	L724*	probably null	Het
Top1	T	C	2: 160,546,878 (GRCm39)	I386T	probably damaging	Het
Tor1aip1	G	T	1: 155,911,859 (GRCm39)	D41E	probably damaging	Het
Tsc22d4	G	A	5: 137,766,371 (GRCm39)	R479Q	probably benign	Het
Unc79	C	T	12: 103,108,961 (GRCm39)	T2191I	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,043 (GRCm39)	D771E	probably damaging	Het
Vmn2r82	A	C	10: 79,192,464 (GRCm39)	M14L	probably benign	Het
Zc3h7a	C	T	16: 10,966,378 (GRCm39)	S583N	probably damaging	Het
Zfp518b	G	A	5: 38,840,122 (GRCm39)		probably benign	Het
Zswim4	A	G	8: 84,955,478 (GRCm39)	W314R	probably damaging	Het

Other mutations in Pcdhb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Pcdhb22	APN	18	37,653,185 (GRCm39)	missense	probably damaging	1.00
IGL00775:Pcdhb22	APN	18	37,652,795 (GRCm39)	missense	probably benign	0.09
IGL01414:Pcdhb22	APN	18	37,652,549 (GRCm39)	missense	probably damaging	1.00
IGL01819:Pcdhb22	APN	18	37,652,974 (GRCm39)	missense	probably damaging	1.00
IGL02232:Pcdhb22	APN	18	37,653,602 (GRCm39)	missense	probably damaging	1.00
IGL03226:Pcdhb22	APN	18	37,652,009 (GRCm39)	missense	probably damaging	1.00
chipper	UTSW	18	37,652,155 (GRCm39)	missense	probably benign	0.39
timber	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R0071:Pcdhb22	UTSW	18	37,653,131 (GRCm39)	missense	probably damaging	1.00
R0363:Pcdhb22	UTSW	18	37,652,213 (GRCm39)	missense	probably benign	0.01
R0454:Pcdhb22	UTSW	18	37,651,925 (GRCm39)	missense	probably damaging	0.99
R0624:Pcdhb22	UTSW	18	37,651,780 (GRCm39)	missense	probably benign	0.00
R0707:Pcdhb22	UTSW	18	37,651,904 (GRCm39)	missense	probably damaging	1.00
R0918:Pcdhb22	UTSW	18	37,653,067 (GRCm39)	missense	probably damaging	1.00
R1112:Pcdhb22	UTSW	18	37,652,821 (GRCm39)	missense	possibly damaging	0.61
R1299:Pcdhb22	UTSW	18	37,653,643 (GRCm39)	missense	probably damaging	0.99
R1351:Pcdhb22	UTSW	18	37,651,627 (GRCm39)	missense	probably benign	0.10
R1488:Pcdhb22	UTSW	18	37,652,941 (GRCm39)	missense	possibly damaging	0.79
R1595:Pcdhb22	UTSW	18	37,653,506 (GRCm39)	missense	probably damaging	1.00
R1709:Pcdhb22	UTSW	18	37,651,553 (GRCm39)	missense	probably benign	0.31
R1725:Pcdhb22	UTSW	18	37,653,241 (GRCm39)	missense	probably benign	0.04
R1869:Pcdhb22	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R1871:Pcdhb22	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R1891:Pcdhb22	UTSW	18	37,652,357 (GRCm39)	missense	probably damaging	0.97
R4523:Pcdhb22	UTSW	18	37,653,474 (GRCm39)	missense	probably benign	0.05
R4825:Pcdhb22	UTSW	18	37,653,713 (GRCm39)	missense	possibly damaging	0.80
R4831:Pcdhb22	UTSW	18	37,653,615 (GRCm39)	missense	probably damaging	1.00
R4851:Pcdhb22	UTSW	18	37,652,087 (GRCm39)	missense	possibly damaging	0.89
R4978:Pcdhb22	UTSW	18	37,651,654 (GRCm39)	missense	probably benign	0.16
R5047:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5061:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5063:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5467:Pcdhb22	UTSW	18	37,653,188 (GRCm39)	missense	probably benign	0.02
R6005:Pcdhb22	UTSW	18	37,652,789 (GRCm39)	missense	possibly damaging	0.75
R6375:Pcdhb22	UTSW	18	37,651,357 (GRCm39)	intron	probably benign
R6418:Pcdhb22	UTSW	18	37,652,959 (GRCm39)	missense	possibly damaging	0.88
R6447:Pcdhb22	UTSW	18	37,653,269 (GRCm39)	missense	possibly damaging	0.91
R6748:Pcdhb22	UTSW	18	37,651,799 (GRCm39)	missense	probably damaging	0.99
R7195:Pcdhb22	UTSW	18	37,652,341 (GRCm39)	missense	probably damaging	1.00
R7243:Pcdhb22	UTSW	18	37,653,685 (GRCm39)	missense	probably benign	0.00
R7503:Pcdhb22	UTSW	18	37,652,155 (GRCm39)	missense	probably benign	0.39
R7765:Pcdhb22	UTSW	18	37,652,158 (GRCm39)	missense	probably damaging	0.99
R8201:Pcdhb22	UTSW	18	37,651,518 (GRCm39)	intron	probably benign
R8976:Pcdhb22	UTSW	18	37,651,396 (GRCm39)	intron	probably benign
R9059:Pcdhb22	UTSW	18	37,652,722 (GRCm39)	missense	probably damaging	1.00
R9072:Pcdhb22	UTSW	18	37,651,813 (GRCm39)	missense	probably damaging	1.00
R9082:Pcdhb22	UTSW	18	37,653,047 (GRCm39)	missense	probably damaging	1.00
R9299:Pcdhb22	UTSW	18	37,651,885 (GRCm39)	nonsense	probably null
R9725:Pcdhb22	UTSW	18	37,652,794 (GRCm39)	missense	probably damaging	0.99
R9796:Pcdhb22	UTSW	18	37,652,404 (GRCm39)	missense	possibly damaging	0.79
X0027:Pcdhb22	UTSW	18	37,653,904 (GRCm39)	missense	probably benign
Z1088:Pcdhb22	UTSW	18	37,652,398 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TCATCTCCATCAACGCTGAC -3'
(R):5'- TCCACCATTAGCACCTGCAG -3'

Sequencing Primer
(F):5'- TGACAACGGGCAGCTGTTC -3'
(R):5'- ACCTGCAGTGTGACGCTAG -3'

Posted On

2019-09-13