Mutagenetix > Incidental Mutation

Incidental Mutation 'R5396:Pcdhb21'

429714

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb21

Ensembl Gene

ENSMUSG00000044022

Gene Name

protocadherin beta 21

Synonyms

PcdhbU, Pcdhb18

MMRRC Submission

044394-MU

Accession Numbers

Essential gene?

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

Stock #

R5396 (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: 98.7%
10x: 97.3%
20x: 95.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	C	2: 127,028,873 (GRCm39)	T109A	probably damaging	Het
A430005L14Rik	GCC	G	4: 154,045,410 (GRCm39)		probably null	Het
Actr1a	T	C	19: 46,384,103 (GRCm39)	D5G	possibly damaging	Het
Adra2c	A	G	5: 35,438,217 (GRCm39)	T330A	probably benign	Het
Ahcyl2	C	T	6: 29,859,697 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,984,539 (GRCm39)	V1941A	probably damaging	Het
Akr1b7	G	A	6: 34,389,411 (GRCm39)		probably null	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ank2	A	G	3: 126,746,875 (GRCm39)	V570A	probably damaging	Het
Ano4	T	C	10: 88,948,702 (GRCm39)	E302G	probably damaging	Het
Bop1	A	T	15: 76,339,489 (GRCm39)	H285Q	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Catsperb	A	T	12: 101,560,543 (GRCm39)	I845L	possibly damaging	Het
Ccdc28b	G	T	4: 129,513,238 (GRCm39)	Q184K	probably damaging	Het
Cd101	A	G	3: 100,926,126 (GRCm39)	S198P	probably damaging	Het
Cdc7	A	T	5: 107,117,163 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,884,269 (GRCm39)	D1268G	probably benign	Het
Celsr3	C	T	9: 108,705,781 (GRCm39)	R755W	probably damaging	Het
Chrnb1	T	A	11: 69,684,979 (GRCm39)	N117I	probably damaging	Het
Chst11	C	A	10: 83,027,083 (GRCm39)	P170Q	probably damaging	Het
Clca3b	A	G	3: 144,552,932 (GRCm39)	Y98H	probably damaging	Het
Crnkl1	A	G	2: 145,770,132 (GRCm39)	V237A	possibly damaging	Het
Ctnnbl1	G	A	2: 157,659,752 (GRCm39)		probably null	Het
Dbndd1	C	A	8: 124,236,582 (GRCm39)	R95S	probably damaging	Het
Ddx3y	A	G	Y: 1,265,965 (GRCm39)	V344A	probably damaging	Het
Defb30	A	T	14: 63,273,559 (GRCm39)		probably null	Het
Dennd10	T	C	19: 60,823,274 (GRCm39)	L303P	probably benign	Het
Dnah17	C	T	11: 118,018,108 (GRCm39)	R129Q	probably benign	Het
Dnhd1	A	T	7: 105,362,891 (GRCm39)	M3818L	probably benign	Het
Dusp4	G	T	8: 35,284,458 (GRCm39)	D258Y	probably damaging	Het
E2f1	A	T	2: 154,406,368 (GRCm39)	F103I	probably benign	Het
Elavl2	T	C	4: 91,149,055 (GRCm39)	Y248C	probably damaging	Het
Ephb3	T	C	16: 21,037,855 (GRCm39)	V310A	possibly damaging	Het
Erbin	A	G	13: 103,993,917 (GRCm39)		probably null	Het
Etv4	A	T	11: 101,666,167 (GRCm39)	H120Q	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,608 (GRCm39)	F474L	probably benign	Het
Flot2	T	A	11: 77,940,314 (GRCm39)	C20*	probably null	Het
Fsip2	G	A	2: 82,821,262 (GRCm39)	G5665D	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Glrp1	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	1: 88,431,066 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,427,955 (GRCm39)	L202*	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hnf1b	A	T	11: 83,746,863 (GRCm39)	M160L	probably damaging	Het
Inhbe	T	C	10: 127,186,470 (GRCm39)	T237A	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kmt2c	A	T	5: 25,499,732 (GRCm39)		probably null	Het
Kyat3	A	G	3: 142,440,367 (GRCm39)	K364E	probably benign	Het
Lars1	T	A	18: 42,350,024 (GRCm39)	T927S	probably benign	Het
Mfap1b	A	T	2: 121,304,371 (GRCm39)	M8K	probably benign	Het
Mroh8	G	A	2: 157,070,576 (GRCm39)	P592S	possibly damaging	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1x6	C	T	11: 50,939,297 (GRCm39)	A121V	probably damaging	Het
Or4c110	A	T	2: 88,832,540 (GRCm39)	L31M	probably benign	Het
Or51a24	T	C	7: 103,734,098 (GRCm39)	Y63C	probably benign	Het
Pcdha8	T	A	18: 37,126,787 (GRCm39)	V423E	probably damaging	Het
Pde8a	T	C	7: 80,983,170 (GRCm39)	V791A	probably damaging	Het
Pds5a	A	G	5: 65,795,920 (GRCm39)	S657P	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Rad51d	A	G	11: 82,781,196 (GRCm39)	V17A	possibly damaging	Het
Sdc1	A	T	12: 8,841,743 (GRCm39)		probably null	Het
Sdcbp2	T	A	2: 151,429,057 (GRCm39)	I152N	probably damaging	Het
Slc4a4	G	T	5: 89,194,076 (GRCm39)	M141I	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spata6	T	C	4: 111,656,315 (GRCm39)	C320R	probably damaging	Het
Spata6l	T	C	19: 28,905,089 (GRCm39)	H325R	possibly damaging	Het
Ssu2	T	A	6: 112,357,957 (GRCm39)	T129S	probably damaging	Het
Stat5a	T	A	11: 100,771,409 (GRCm39)	W631R	probably damaging	Het
Sult1c2	T	A	17: 54,143,939 (GRCm39)	N122I	possibly damaging	Het
Synpo2	G	A	3: 122,911,331 (GRCm39)	Q105*	probably null	Het
Tert	G	A	13: 73,787,362 (GRCm39)	V783I	probably damaging	Het
Ticam1	G	T	17: 56,578,117 (GRCm39)	T326K	probably benign	Het
Tmem63b	T	C	17: 45,980,888 (GRCm39)	M269V	possibly damaging	Het
Tmem86a	T	A	7: 46,702,794 (GRCm39)	V73E	possibly damaging	Het
Trpv4	G	A	5: 114,761,675 (GRCm39)	R818C	possibly damaging	Het
Tstd2	A	G	4: 46,135,542 (GRCm39)	S4P	probably benign	Het
Ttn	A	T	2: 76,644,715 (GRCm39)	V4686E	probably damaging	Het
Ubash3b	A	G	9: 40,954,769 (GRCm39)		probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Usp33	A	G	3: 152,089,824 (GRCm39)	E780G	possibly damaging	Het
Vapb	T	A	2: 173,613,336 (GRCm39)	Y78*	probably null	Het
Vps13b	G	A	15: 35,887,094 (GRCm39)	R3227Q	probably damaging	Het
Vps33a	A	T	5: 123,696,693 (GRCm39)	I320N	probably damaging	Het
Wnt5a	T	C	14: 28,244,727 (GRCm39)	C305R	probably damaging	Het
Zbtb38	A	G	9: 96,569,696 (GRCm39)	C463R	probably damaging	Het
Zc3h12d	G	A	10: 7,742,090 (GRCm39)	C263Y	probably damaging	Het
Zfp971	G	A	2: 177,675,526 (GRCm39)	R375Q	probably damaging	Het
Znrf1	T	A	8: 112,345,826 (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
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
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'- ATGACAATGCGCCCTTCGTG -3'
(R):5'- AATAGAGTGTGAGCGCTTCCTC -3'

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

Posted On

2016-09-06