Mutagenetix > Incidental Mutation

Incidental Mutation 'R5399:Pcdhb21'

429905

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb21

Ensembl Gene

ENSMUSG00000044022

Gene Name

protocadherin beta 21

Synonyms

PcdhbU, Pcdhb18

MMRRC Submission

042970-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5399 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37646678-37650260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37648772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 634 (V634L)

Ref Sequence

ENSEMBL: ENSMUSP00000056424 (fasta)

Gene Model

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

AlphaFold

Q91V48

Predicted Effect

probably benign
Transcript: ENSMUST00000061405
AA Change: V634L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022
AA Change: V634L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	T	2: 152,282,788 (GRCm39)	L214F	probably damaging	Het
Abcb1b	T	C	5: 8,877,410 (GRCm39)	S657P	probably benign	Het
Abcb5	T	A	12: 118,875,234 (GRCm39)	Y646F	probably benign	Het
Agl	A	T	3: 116,575,277 (GRCm39)	L620Q	probably damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Arhgap23	A	G	11: 97,391,743 (GRCm39)	N1420S	probably damaging	Het
Barx2	A	G	9: 31,765,407 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,911,573 (GRCm39)	S28R	possibly damaging	Het
Bmal2	T	G	6: 146,724,159 (GRCm39)	D350E	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Casp4	A	T	9: 5,324,928 (GRCm39)	K247*	probably null	Het
Ccdc196	A	C	12: 78,244,227 (GRCm39)	N60T	probably damaging	Het
Clk4	T	C	11: 51,166,084 (GRCm39)	Y17H	probably damaging	Het
Cntnap1	A	G	11: 101,074,142 (GRCm39)	Q722R	probably benign	Het
Col6a6	A	G	9: 105,586,306 (GRCm39)	V1905A	possibly damaging	Het
Csmd1	C	A	8: 16,760,613 (GRCm39)	G174V	probably damaging	Het
Cul1	T	A	6: 47,462,018 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,281,458 (GRCm39)	E568G	possibly damaging	Het
Dnaaf2	A	G	12: 69,243,516 (GRCm39)	I515T	probably damaging	Het
Fbn1	T	C	2: 125,174,253 (GRCm39)	I1868V	possibly damaging	Het
Fcgbp	G	T	7: 27,804,480 (GRCm39)	V1863L	probably benign	Het
G2e3	T	C	12: 51,403,977 (GRCm39)		probably null	Het
Gabrr2	T	C	4: 33,071,458 (GRCm39)		probably null	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gbgt1	C	T	2: 28,393,230 (GRCm39)	P106L	probably damaging	Het
Golga3	A	G	5: 110,352,890 (GRCm39)	E927G	probably damaging	Het
Hfm1	T	A	5: 107,065,428 (GRCm39)	I84F	possibly damaging	Het
Htt	G	T	5: 35,034,495 (GRCm39)	D1989Y	probably damaging	Het
Ihh	C	T	1: 74,985,436 (GRCm39)	A350T	probably benign	Het
Irx4	G	C	13: 73,413,658 (GRCm39)	A43P	probably benign	Het
Itk	A	G	11: 46,228,938 (GRCm39)	V414A	probably benign	Het
Itsn2	A	T	12: 4,703,535 (GRCm39)	I744L	probably benign	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kif14	A	G	1: 136,431,062 (GRCm39)	D1153G	probably benign	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msc	A	T	1: 14,825,780 (GRCm39)	C65S	probably benign	Het
Mybpc1	A	G	10: 88,358,876 (GRCm39)	V343A	probably damaging	Het
Myo5c	T	C	9: 75,195,356 (GRCm39)	I1218T	possibly damaging	Het
Mypn	C	T	10: 62,955,965 (GRCm39)	V1163I	probably benign	Het
Obox3	A	T	7: 15,360,213 (GRCm39)	M152K	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t47	A	G	11: 58,442,969 (GRCm39)	V32A	probably benign	Het
Or4c106	T	A	2: 88,682,999 (GRCm39)	L235H	probably damaging	Het
Or4c3	T	A	2: 89,852,267 (GRCm39)	T48S	probably benign	Het
Ppp1r9b	G	A	11: 94,882,974 (GRCm39)	A201T	probably benign	Het
Pramel25	T	C	4: 143,521,602 (GRCm39)	F406S	probably benign	Het
Prss23	A	T	7: 89,159,174 (GRCm39)	D298E	probably benign	Het
Rab4b	A	T	7: 26,875,587 (GRCm39)	N31K	probably benign	Het
Ros1	A	G	10: 51,967,040 (GRCm39)		probably null	Het
Rragb	G	A	X: 151,923,550 (GRCm39)	G24E	probably damaging	Het
Rtl1	A	T	12: 109,556,736 (GRCm39)	L1701Q	probably damaging	Het
Sbno1	T	A	5: 124,530,804 (GRCm39)	N831Y	probably benign	Het
Selp	A	G	1: 163,954,155 (GRCm39)	K152E	possibly damaging	Het
Sema4b	A	G	7: 79,874,634 (GRCm39)	T675A	probably benign	Het
Slc36a3	T	C	11: 55,037,006 (GRCm39)	I100V	possibly damaging	Het
Slco1a4	T	A	6: 141,776,433 (GRCm39)	I196F	probably damaging	Het
Spata13	G	A	14: 60,984,990 (GRCm39)	S828N	probably benign	Het
Stard13	A	T	5: 150,971,266 (GRCm39)	Y643*	probably null	Het
Tll1	T	C	8: 64,538,522 (GRCm39)	H374R	probably damaging	Het
Trmt10a	T	A	3: 137,853,265 (GRCm39)	I42K	probably damaging	Het
Trmu	A	T	15: 85,780,609 (GRCm39)		probably null	Het
Trp53	T	A	11: 69,479,372 (GRCm39)	D183E	probably benign	Het
Ttc22	T	G	4: 106,493,954 (GRCm39)	F305V	probably damaging	Het
Unc13c	A	G	9: 73,656,970 (GRCm39)	F1077S	possibly damaging	Het
Utrn	T	A	10: 12,516,727 (GRCm39)	Q2289L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,809 (GRCm39)	E142*	probably null	Het
Vmn2r63	A	T	7: 42,577,701 (GRCm39)	V279D	probably benign	Het
Zfp810	G	A	9: 22,190,125 (GRCm39)	T261I	possibly damaging	Het
Zkscan17	A	G	11: 59,393,744 (GRCm39)		probably null	Het

Other mutations in Pcdhb21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Pcdhb21	APN	18	37,647,606 (GRCm39)	missense	probably damaging	1.00
IGL01860:Pcdhb21	APN	18	37,647,958 (GRCm39)	missense	probably benign	0.00
IGL02139:Pcdhb21	APN	18	37,648,299 (GRCm39)	missense	probably damaging	1.00
IGL02370:Pcdhb21	APN	18	37,647,645 (GRCm39)	splice site	probably null
IGL03108:Pcdhb21	APN	18	37,648,944 (GRCm39)	splice site	probably null
IGL03265:Pcdhb21	APN	18	37,648,206 (GRCm39)	missense	probably damaging	1.00
R0454:Pcdhb21	UTSW	18	37,647,566 (GRCm39)	missense	probably damaging	1.00
R0519:Pcdhb21	UTSW	18	37,649,085 (GRCm39)	missense	possibly damaging	0.95
R0647:Pcdhb21	UTSW	18	37,646,913 (GRCm39)	missense	probably damaging	0.99
R0689:Pcdhb21	UTSW	18	37,648,370 (GRCm39)	missense	probably benign	0.00
R1607:Pcdhb21	UTSW	18	37,648,532 (GRCm39)	missense	probably damaging	1.00
R1649:Pcdhb21	UTSW	18	37,648,666 (GRCm39)	missense	probably damaging	1.00
R1777:Pcdhb21	UTSW	18	37,648,771 (GRCm39)	missense	possibly damaging	0.80
R1865:Pcdhb21	UTSW	18	37,647,648 (GRCm39)	missense	possibly damaging	0.95
R4595:Pcdhb21	UTSW	18	37,647,568 (GRCm39)	missense	probably damaging	1.00
R4888:Pcdhb21	UTSW	18	37,648,130 (GRCm39)	missense	possibly damaging	0.76
R5281:Pcdhb21	UTSW	18	37,646,988 (GRCm39)	missense	probably benign	0.00
R5396:Pcdhb21	UTSW	18	37,648,772 (GRCm39)	missense	probably benign	0.03
R5398:Pcdhb21	UTSW	18	37,648,772 (GRCm39)	missense	probably benign	0.03
R5635:Pcdhb21	UTSW	18	37,646,970 (GRCm39)	missense	probably benign	0.33
R6134:Pcdhb21	UTSW	18	37,647,461 (GRCm39)	missense	probably benign	0.03
R6387:Pcdhb21	UTSW	18	37,648,385 (GRCm39)	missense	probably benign	0.35
R6595:Pcdhb21	UTSW	18	37,648,961 (GRCm39)	missense	probably damaging	1.00
R6750:Pcdhb21	UTSW	18	37,647,501 (GRCm39)	missense	probably damaging	1.00
R6754:Pcdhb21	UTSW	18	37,647,736 (GRCm39)	missense	probably benign	0.28
R6928:Pcdhb21	UTSW	18	37,647,474 (GRCm39)	missense	probably damaging	1.00
R7420:Pcdhb21	UTSW	18	37,648,256 (GRCm39)	missense	probably damaging	1.00
R7503:Pcdhb21	UTSW	18	37,648,028 (GRCm39)	missense	probably benign	0.07
R8164:Pcdhb21	UTSW	18	37,649,057 (GRCm39)	missense	probably benign	0.32
R8219:Pcdhb21	UTSW	18	37,647,708 (GRCm39)	missense	probably damaging	1.00
R8271:Pcdhb21	UTSW	18	37,648,921 (GRCm39)	missense	probably benign	0.00
R8336:Pcdhb21	UTSW	18	37,648,942 (GRCm39)	nonsense	probably null
R8442:Pcdhb21	UTSW	18	37,646,841 (GRCm39)	intron	probably benign
R8678:Pcdhb21	UTSW	18	37,647,939 (GRCm39)	missense	probably damaging	1.00
R9096:Pcdhb21	UTSW	18	37,648,071 (GRCm39)	missense	probably damaging	1.00
R9564:Pcdhb21	UTSW	18	37,646,972 (GRCm39)	missense	possibly damaging	0.48
R9601:Pcdhb21	UTSW	18	37,648,385 (GRCm39)	missense	probably damaging	1.00
Z1088:Pcdhb21	UTSW	18	37,647,594 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACGACAATGACAATGCGCC -3'
(R):5'- AGTGTGAGCGCTTCCTCATC -3'

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

Posted On

2016-09-06