Mutagenetix > Incidental Mutations

Incidental Mutation 'R1649:Pcdhb21'

174138

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb21

Ensembl Gene

ENSMUSG00000044022

Gene Name

protocadherin beta 21

Synonyms

Pcdhb18, PcdhbU

MMRRC Submission

039685-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37513621-37518325 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37515613 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 598 (N598K)

Ref Sequence

ENSEMBL: ENSMUSP00000056424 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000061405
AA Change: N598K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022
AA Change: N598K

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 benign
Transcript: ENSMUST00000097609

SMART Domains

Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591

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 benign
Transcript: ENSMUST00000192409

SMART Domains

Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Gse1	T	C	8: 120,578,515		probably benign	Het
Ildr1	T	C	16: 36,708,319	L42P	probably damaging	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Nsd2	T	C	5: 33,854,640	V264A	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,315,224	Y144H	probably damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Sept14	T	C	5: 129,697,755	N119D	probably benign	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,936,262	G443C	probably damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp618	T	C	4: 63,095,537	F213S	probably damaging	Het
Zfp759	T	A	13: 67,139,604	N406K	probably benign	Het

Other mutations in Pcdhb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Pcdhb21	APN	18	37514553	missense	probably damaging	1.00
IGL01860:Pcdhb21	APN	18	37514905	missense	probably benign	0.00
IGL02139:Pcdhb21	APN	18	37515246	missense	probably damaging	1.00
IGL02370:Pcdhb21	APN	18	37514592	unclassified	probably null
IGL03108:Pcdhb21	APN	18	37515891	unclassified	probably null
IGL03265:Pcdhb21	APN	18	37515153	missense	probably damaging	1.00
R0454:Pcdhb21	UTSW	18	37514513	missense	probably damaging	1.00
R0519:Pcdhb21	UTSW	18	37516032	missense	possibly damaging	0.95
R0647:Pcdhb21	UTSW	18	37513860	missense	probably damaging	0.99
R0689:Pcdhb21	UTSW	18	37515317	missense	probably benign	0.00
R1607:Pcdhb21	UTSW	18	37515479	missense	probably damaging	1.00
R1777:Pcdhb21	UTSW	18	37515718	missense	possibly damaging	0.80
R1865:Pcdhb21	UTSW	18	37514595	missense	possibly damaging	0.95
R4595:Pcdhb21	UTSW	18	37514515	missense	probably damaging	1.00
R4888:Pcdhb21	UTSW	18	37515077	missense	possibly damaging	0.76
R5281:Pcdhb21	UTSW	18	37513935	missense	probably benign	0.00
R5396:Pcdhb21	UTSW	18	37515719	missense	probably benign	0.03
R5398:Pcdhb21	UTSW	18	37515719	missense	probably benign	0.03
R5399:Pcdhb21	UTSW	18	37515719	missense	probably benign	0.03
R5635:Pcdhb21	UTSW	18	37513917	missense	probably benign	0.33
R6134:Pcdhb21	UTSW	18	37514408	missense	probably benign	0.03
R6387:Pcdhb21	UTSW	18	37515332	missense	probably benign	0.35
R6595:Pcdhb21	UTSW	18	37515908	missense	probably damaging	1.00
R6750:Pcdhb21	UTSW	18	37514448	missense	probably damaging	1.00
R6754:Pcdhb21	UTSW	18	37514683	missense	probably benign	0.28
R6928:Pcdhb21	UTSW	18	37514421	missense	probably damaging	1.00
R7420:Pcdhb21	UTSW	18	37515203	missense	probably damaging	1.00
R7503:Pcdhb21	UTSW	18	37514975	missense	probably benign	0.07
Z1088:Pcdhb21	UTSW	18	37514541	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCAGATTTAGGCTCCAATGCCCAC -3'
(R):5'- TGTCCATCAGGTTCAGAGTAGCCAC -3'

Sequencing Primer
(F):5'- GCTGGACTATGAAACCCTACAGG -3'
(R):5'- CTCATCCACTTGGGTAGAGTCG -3'

Posted On

2014-04-24