Mutagenetix > Incidental Mutation

Incidental Mutation 'R8219:Pcdhb21'

636582

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb21

Ensembl Gene

ENSMUSG00000044022

Gene Name

protocadherin beta 21

Synonyms

PcdhbU, Pcdhb18

MMRRC Submission

067659-MU

Accession Numbers

Essential gene?

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

Stock #

R8219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37646678-37650260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37647708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 279 (F279S)

Ref Sequence

ENSEMBL: ENSMUSP00000056424 (fasta)

Gene Model

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

AlphaFold

Q91V48

Predicted Effect

probably damaging
Transcript: ENSMUST00000061405
AA Change: F279S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022
AA Change: F279S

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (62/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,833,363 (GRCm39)	S80T	unknown	Het
Acnat1	T	A	4: 49,447,748 (GRCm39)	I278F	probably benign	Het
Adgrf5	A	T	17: 43,760,750 (GRCm39)	Q815L	probably benign	Het
Aff1	T	A	5: 103,994,199 (GRCm39)	Y1022N	probably damaging	Het
Ahi1	A	G	10: 20,950,335 (GRCm39)	K1034E	probably benign	Het
Ano8	A	T	8: 71,933,357 (GRCm39)	L645Q	unknown	Het
Atg9b	A	G	5: 24,591,330 (GRCm39)	L756P	probably damaging	Het
Atp2b2	A	T	6: 113,770,811 (GRCm39)	I411N	probably damaging	Het
Bmp6	T	A	13: 38,529,963 (GRCm39)	C19S	unknown	Het
Borcs5	A	G	6: 134,621,313 (GRCm39)	H27R	probably benign	Het
Cachd1	C	A	4: 100,848,159 (GRCm39)	D1091E	probably benign	Het
Ccdc186	T	A	19: 56,781,777 (GRCm39)	M801L	probably benign	Het
Clcn3	A	T	8: 61,376,000 (GRCm39)	M658K	probably damaging	Het
Col1a1	C	T	11: 94,834,184 (GRCm39)	R500C	probably damaging	Het
Cul4a	T	A	8: 13,196,540 (GRCm39)	D731E	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E2f7	T	A	10: 110,595,704 (GRCm39)	V133E	probably damaging	Het
Fam161b	T	C	12: 84,393,648 (GRCm39)	E575G	probably benign	Het
Fubp1	T	A	3: 151,926,103 (GRCm39)	V275D	probably damaging	Het
Gabrg1	T	A	5: 70,931,643 (GRCm39)	R367*	probably null	Het
Gm6902	G	A	7: 22,973,143 (GRCm39)	A128V	probably benign	Het
Gnptab	A	G	10: 88,269,654 (GRCm39)	T786A	probably benign	Het
Golga2	A	G	2: 32,196,492 (GRCm39)	N981D	probably damaging	Het
Gsap	A	T	5: 21,456,113 (GRCm39)	I437L	probably benign	Het
Gulp1	A	G	1: 44,793,501 (GRCm39)		probably null	Het
Kcnn1	T	C	8: 71,305,499 (GRCm39)	Y237C	probably damaging	Het
Klhl28	A	T	12: 64,998,431 (GRCm39)	N354K	probably benign	Het
Lama3	T	C	18: 12,572,417 (GRCm39)	Y541H	probably benign	Het
Lamc1	A	G	1: 153,123,073 (GRCm39)	Y706H	probably damaging	Het
Lima1	G	T	15: 99,678,671 (GRCm39)	T590K	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mrgprb8	G	A	7: 48,038,649 (GRCm39)	V107M	possibly damaging	Het
Mrpl3	T	A	9: 104,934,271 (GRCm39)	N139K	possibly damaging	Het
Nhsl3	T	A	4: 129,141,946 (GRCm39)	D65V	possibly damaging	Het
Nudt16	T	A	9: 105,007,636 (GRCm39)	N161I	probably damaging	Het
Obscn	G	A	11: 59,013,574 (GRCm39)	S1091L	probably benign	Het
Oog4	T	C	4: 143,166,508 (GRCm39)	M99V	probably benign	Het
Or5b105	A	C	19: 13,080,284 (GRCm39)	L122R	probably damaging	Het
Or8c16	A	C	9: 38,130,668 (GRCm39)	D183A	probably damaging	Het
Osbpl6	A	T	2: 76,386,247 (GRCm39)	D303V	probably damaging	Het
Peg3	G	A	7: 6,711,364 (GRCm39)	T1286I	probably benign	Het
Phax	A	G	18: 56,708,754 (GRCm39)	N106S	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprn2	C	A	12: 117,148,357 (GRCm39)	Q706K	probably benign	Het
Rdh11	T	G	12: 79,235,880 (GRCm39)	K23Q	probably benign	Het
Rit2	T	A	18: 31,108,547 (GRCm39)	E146V	probably damaging	Het
Rnf141	T	C	7: 110,436,472 (GRCm39)		probably benign	Het
Sars1	T	A	3: 108,352,378 (GRCm39)	E24V	probably benign	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Slc10a5	G	T	3: 10,400,384 (GRCm39)	P92Q	probably benign	Het
Slc24a5	A	T	2: 124,927,575 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Slc6a5	A	G	7: 49,561,911 (GRCm39)	M148V	probably benign	Het
Sorl1	T	C	9: 41,952,857 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,874,117 (GRCm39)	Y119F	probably benign	Het
Tgm6	A	G	2: 129,993,200 (GRCm39)	K562R	probably benign	Het
Tlr3	T	C	8: 45,851,016 (GRCm39)	E627G	possibly damaging	Het
Tmprss11f	A	G	5: 86,677,878 (GRCm39)	L297P	probably damaging	Het
Tpbgl	T	C	7: 99,274,978 (GRCm39)	H293R	probably benign	Het
Trank1	A	C	9: 111,193,977 (GRCm39)	K667T	probably damaging	Het
Trpm1	A	T	7: 63,851,699 (GRCm39)	Q139L	probably benign	Het
Ttf2	T	G	3: 100,869,879 (GRCm39)	K398T	possibly damaging	Het
Xpa	A	T	4: 46,183,150 (GRCm39)	M213K	probably benign	Het
Zmym2	T	A	14: 57,163,316 (GRCm39)	S623T	probably benign	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
R5399: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
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'- ACAGCTATGGATGGTGGGTC -3'
(R):5'- CTGGTGGGTTGTCATTCACATC -3'

Sequencing Primer
(F):5'- CTATGGATGGTGGGTCCCTGC -3'
(R):5'- CTGTAACCTGGACAATAATGGCTG -3'

Posted On

2020-07-13