Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Pcdhb2'

207056

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb2

Ensembl Gene

ENSMUSG00000051599

Gene Name

protocadherin beta 2

Synonyms

PcdhbB

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37427893-37430667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37429038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 337 (V337D)

Ref Sequence

ENSEMBL: ENSMUSP00000057921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]

AlphaFold

Q91Y00

Predicted Effect

probably benign
Transcript: ENSMUST00000051754

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
CA	44	131	6.29e-1	SMART
CA	155	240	7.16e-21	SMART
CA	264	345	1.22e-23	SMART
CA	368	449	2.86e-20	SMART
CA	473	559	2.55e-26	SMART
CA	589	670	1.11e-8	SMART
Pfam:Cadherin_C_2	687	770	9.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056522
AA Change: V337D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: V337D

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	32	114	5.2e-33	PFAM
CA	157	242	1.74e-19	SMART
CA	266	347	5.99e-23	SMART
CA	370	451	1.16e-20	SMART
CA	475	561	5.94e-27	SMART
CA	591	672	2.03e-11	SMART
Pfam:Cadherin_C_2	688	771	3.5e-26	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: ENSMUST00000193137

SMART Domains

Protein: ENSMUSP00000141439
Gene: ENSMUSG00000051599

Domain	Start	End	E-Value	Type
CA	13	94	1.8e-22	SMART

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

0.4676

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	possibly damaging	Het

Other mutations in Pcdhb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Pcdhb2	APN	18	37,429,516 (GRCm39)	splice site	probably null
IGL01538:Pcdhb2	APN	18	37,428,375 (GRCm39)	nonsense	probably null
IGL01716:Pcdhb2	APN	18	37,429,791 (GRCm39)	missense	probably damaging	0.99
IGL01747:Pcdhb2	APN	18	37,429,356 (GRCm39)	missense	probably damaging	1.00
IGL01770:Pcdhb2	APN	18	37,429,356 (GRCm39)	missense	probably damaging	1.00
IGL01999:Pcdhb2	APN	18	37,429,890 (GRCm39)	missense	probably damaging	1.00
IGL02174:Pcdhb2	APN	18	37,429,551 (GRCm39)	missense	probably damaging	1.00
IGL02325:Pcdhb2	APN	18	37,429,733 (GRCm39)	missense	possibly damaging	0.91
IGL03148:Pcdhb2	APN	18	37,429,831 (GRCm39)	missense	probably damaging	1.00
IGL03263:Pcdhb2	APN	18	37,429,059 (GRCm39)	missense	probably damaging	1.00
R0158:Pcdhb2	UTSW	18	37,430,283 (GRCm39)	missense	probably damaging	1.00
R0512:Pcdhb2	UTSW	18	37,429,032 (GRCm39)	missense	probably damaging	1.00
R0656:Pcdhb2	UTSW	18	37,428,543 (GRCm39)	missense	probably damaging	1.00
R0670:Pcdhb2	UTSW	18	37,429,701 (GRCm39)	missense	probably damaging	1.00
R0698:Pcdhb2	UTSW	18	37,430,419 (GRCm39)	missense	probably benign	0.00
R0825:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0827:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0862:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0863:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R1344:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R1440:Pcdhb2	UTSW	18	37,429,343 (GRCm39)	missense	probably benign	0.22
R1826:Pcdhb2	UTSW	18	37,429,038 (GRCm39)	missense	probably damaging	0.99
R1869:Pcdhb2	UTSW	18	37,430,408 (GRCm39)	splice site	probably null
R1871:Pcdhb2	UTSW	18	37,430,408 (GRCm39)	splice site	probably null
R2292:Pcdhb2	UTSW	18	37,430,297 (GRCm39)	splice site	probably null
R3743:Pcdhb2	UTSW	18	37,429,470 (GRCm39)	missense	probably damaging	1.00
R4067:Pcdhb2	UTSW	18	37,430,367 (GRCm39)	splice site	probably null
R4127:Pcdhb2	UTSW	18	37,428,594 (GRCm39)	missense	probably damaging	0.97
R4402:Pcdhb2	UTSW	18	37,428,455 (GRCm39)	missense	probably benign	0.05
R4579:Pcdhb2	UTSW	18	37,429,168 (GRCm39)	missense	probably damaging	1.00
R4621:Pcdhb2	UTSW	18	37,428,980 (GRCm39)	missense	probably benign	0.44
R4678:Pcdhb2	UTSW	18	37,429,260 (GRCm39)	missense	probably damaging	1.00
R5143:Pcdhb2	UTSW	18	37,429,785 (GRCm39)	missense	probably damaging	1.00
R5152:Pcdhb2	UTSW	18	37,429,179 (GRCm39)	missense	probably damaging	0.97
R6552:Pcdhb2	UTSW	18	37,429,046 (GRCm39)	missense	probably benign
R6908:Pcdhb2	UTSW	18	37,429,577 (GRCm39)	missense	probably damaging	1.00
R6973:Pcdhb2	UTSW	18	37,429,416 (GRCm39)	missense	probably benign	0.03
R7143:Pcdhb2	UTSW	18	37,428,934 (GRCm39)	missense	probably benign	0.05
R7248:Pcdhb2	UTSW	18	37,429,547 (GRCm39)	missense	probably damaging	1.00
R7586:Pcdhb2	UTSW	18	37,428,857 (GRCm39)	nonsense	probably null
R7634:Pcdhb2	UTSW	18	37,428,000 (GRCm39)	intron	probably benign
R7796:Pcdhb2	UTSW	18	37,428,446 (GRCm39)	missense	possibly damaging	0.63
R7862:Pcdhb2	UTSW	18	37,429,113 (GRCm39)	missense	probably benign	0.25
R8415:Pcdhb2	UTSW	18	37,429,110 (GRCm39)	missense	probably damaging	0.97
R8950:Pcdhb2	UTSW	18	37,429,715 (GRCm39)	missense	probably damaging	1.00
R9351:Pcdhb2	UTSW	18	37,429,369 (GRCm39)	missense	probably damaging	1.00
R9360:Pcdhb2	UTSW	18	37,429,551 (GRCm39)	missense	probably damaging	1.00
R9592:Pcdhb2	UTSW	18	37,429,266 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTACGCCTTTTCCCAAG -3'
(R):5'- TGATCTGGTCTCTCGATCCAG -3'

Sequencing Primer
(F):5'- AAGCCTCTGAAGACATTCGG -3'
(R):5'- TCTCTCGATCCAGGGCTGTG -3'

Posted On

2014-06-23