Mutagenetix > Incidental Mutation

Incidental Mutation 'R7143:Pcdhb2'

553583

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb2

Ensembl Gene

ENSMUSG00000051599

Gene Name

protocadherin beta 2

Synonyms

PcdhbB

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37294812-37297624 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37295881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 302 (E302D)

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 benign
Transcript: ENSMUST00000056522
AA Change: E302D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: E302D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	C	T	7: 104,059,215	C129Y	probably damaging	Het
Agbl4	A	G	4: 111,617,136	N374S	probably damaging	Het
Agl	A	G	3: 116,792,021	S153P	probably damaging	Het
Akap6	T	G	12: 52,887,364	D546E	probably benign	Het
Ankrd17	C	A	5: 90,285,961	A650S	possibly damaging	Het
Ankrd53	A	G	6: 83,762,911	R16G	possibly damaging	Het
Apba2	T	C	7: 64,744,417	L570P	probably damaging	Het
Asap1	A	G	15: 64,191,528	F101L	probably damaging	Het
Cadm4	T	A	7: 24,499,567	I89N	possibly damaging	Het
Cadps	C	T	14: 12,491,838	V771I	probably benign	Het
Cenph	A	G	13: 100,761,777	V206A	possibly damaging	Het
Cenpn	A	G	8: 116,937,227	T253A	probably benign	Het
Cep120	C	T	18: 53,683,385	G939R	probably benign	Het
Cfap57	G	A	4: 118,620,709		probably benign	Het
Clip1	T	C	5: 123,653,610	I166V	probably benign	Het
Cstf3	T	A	2: 104,646,616	V144E	probably benign	Het
Cyp21a1	T	A	17: 34,802,326	H357L	probably damaging	Het
Cyth3	T	A	5: 143,684,396	V12E	unknown	Het
Dgat2	T	C	7: 99,157,124	I289V	probably benign	Het
Dip2a	A	G	10: 76,297,791	C527R	probably damaging	Het
Dnah17	A	C	11: 118,086,130	W1879G	probably damaging	Het
Dnaic2	A	G	11: 114,754,250	T504A	possibly damaging	Het
Efl1	C	T	7: 82,762,680	P759L	probably damaging	Het
Egfr	A	C	11: 16,871,627	I351L	probably benign	Het
Ercc6	G	A	14: 32,570,305	E1209K	probably damaging	Het
Fam135b	A	T	15: 71,479,151	M292K	probably benign	Het
Fbxl7	C	A	15: 26,543,158	V468L	probably benign	Het
Fhl2	G	T	1: 43,141,851	H60N	probably damaging	Het
G6pc	G	T	11: 101,370,723	R83L	probably damaging	Het
Gata4	C	A	14: 63,204,617	R252L	probably damaging	Het
Glt8d1	T	A	14: 31,006,645	I10N	probably damaging	Het
Gm10471	T	A	5: 26,085,676	I166F	probably benign	Het
Gm10803	T	A	2: 93,563,959	Y25*	probably null	Het
Gm19345	T	C	7: 19,857,834	F108S	unknown	Het
Gm4952	A	G	19: 12,618,407	T54A	possibly damaging	Het
Gprc6a	C	T	10: 51,614,890	R921H	probably benign	Het
Hc	A	T	2: 35,050,438	H129Q	probably benign	Het
Heatr5a	T	C	12: 51,961,468	R31G	probably benign	Het
Hephl1	T	C	9: 15,060,810	K945E	possibly damaging	Het
Ik	G	T	18: 36,751,177	M237I	probably damaging	Het
Izumo1	T	A	7: 45,627,095	S361T	probably benign	Het
Kcnq4	A	G	4: 120,711,239	F427L	probably benign	Het
Kifap3	A	T	1: 163,825,859	N338I	possibly damaging	Het
Kifap3	T	A	1: 163,856,040	M430K	possibly damaging	Het
Lamb3	A	G	1: 193,304,565	E53G	probably damaging	Het
Lrp1b	A	T	2: 41,312,643	I1266K		Het
Nat8	A	T	6: 85,830,503	I216K	probably benign	Het
Ncapd2	T	C	6: 125,179,561	I454V	probably benign	Het
Nlrp4f	A	T	13: 65,195,306	V153E	probably damaging	Het
Nlrp4f	G	C	13: 65,199,352	Q9E	possibly damaging	Het
Npy2r	A	T	3: 82,540,943	I175N	probably benign	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr1247	T	C	2: 89,610,019	M28V	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,874	T221A	probably benign	Het
Olfr665	C	T	7: 104,881,186	P160S	probably damaging	Het
Pcdh9	T	C	14: 93,888,272	N154S	probably damaging	Het
Pclo	T	A	5: 14,858,822	V5048E	unknown	Het
Pcnt	A	G	10: 76,389,060	L1870S	possibly damaging	Het
Pigc	T	C	1: 161,970,592	Y48H	probably damaging	Het
Pisd	C	T	5: 32,738,502	V241I	possibly damaging	Het
Pkhd1l1	A	T	15: 44,573,637	M3464L	possibly damaging	Het
Pofut2	T	A	10: 77,259,426	I35N	probably benign	Het
Prss27	A	G	17: 24,045,658	Y265C	probably damaging	Het
Prss56	T	A	1: 87,188,153	I583K	probably benign	Het
Rnpep	T	C	1: 135,283,749	E87G	probably benign	Het
Shtn1	T	C	19: 59,018,906	H304R	probably damaging	Het
Slc23a4	A	T	6: 34,978,913	I62N	probably damaging	Het
Slc35e2	A	T	4: 155,618,594	I355F	probably benign	Het
Snx25	T	C	8: 46,035,715	I868V	possibly damaging	Het
Spatc1l	T	A	10: 76,569,931	L323Q	probably damaging	Het
Taok1	A	G	11: 77,537,988	V962A	probably benign	Het
Tas2r140	A	G	6: 133,055,519	I92T	probably benign	Het
Trim17	C	A	11: 58,965,184	Y22*	probably null	Het
Tti1	T	A	2: 158,007,676	M548L	probably benign	Het
Unc93b1	T	C	19: 3,935,204	V4A	unknown	Het
Utp3	G	C	5: 88,554,517		probably benign	Het
Vmn1r225	A	T	17: 20,502,384	Y29F	probably benign	Het
Vmn1r34	A	T	6: 66,637,664	I30N	probably benign	Het
Vmn2r67	T	A	7: 85,152,638	M152L	probably benign	Het
Wdr20rt	T	G	12: 65,225,918	F52V	probably benign	Het
Zfp869	G	T	8: 69,706,656	H422Q	probably damaging	Het

Other mutations in Pcdhb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Pcdhb2	APN	18	37296463	splice site	probably null
IGL01538:Pcdhb2	APN	18	37295322	nonsense	probably null
IGL01716:Pcdhb2	APN	18	37296738	missense	probably damaging	0.99
IGL01747:Pcdhb2	APN	18	37296303	missense	probably damaging	1.00
IGL01770:Pcdhb2	APN	18	37296303	missense	probably damaging	1.00
IGL01999:Pcdhb2	APN	18	37296837	missense	probably damaging	1.00
IGL02174:Pcdhb2	APN	18	37296498	missense	probably damaging	1.00
IGL02325:Pcdhb2	APN	18	37296680	missense	possibly damaging	0.91
IGL03148:Pcdhb2	APN	18	37296778	missense	probably damaging	1.00
IGL03263:Pcdhb2	APN	18	37296006	missense	probably damaging	1.00
R0158:Pcdhb2	UTSW	18	37297230	missense	probably damaging	1.00
R0512:Pcdhb2	UTSW	18	37295979	missense	probably damaging	1.00
R0656:Pcdhb2	UTSW	18	37295490	missense	probably damaging	1.00
R0670:Pcdhb2	UTSW	18	37296648	missense	probably damaging	1.00
R0698:Pcdhb2	UTSW	18	37297366	missense	probably benign	0.00
R0825:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R0827:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R0862:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R0863:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R1344:Pcdhb2	UTSW	18	37295657	missense	possibly damaging	0.61
R1440:Pcdhb2	UTSW	18	37296290	missense	probably benign	0.22
R1826:Pcdhb2	UTSW	18	37295985	missense	probably damaging	0.99
R1828:Pcdhb2	UTSW	18	37295985	missense	probably damaging	0.99
R1869:Pcdhb2	UTSW	18	37297355	splice site	probably null
R1871:Pcdhb2	UTSW	18	37297355	splice site	probably null
R2292:Pcdhb2	UTSW	18	37297244	splice site	probably null
R3743:Pcdhb2	UTSW	18	37296417	missense	probably damaging	1.00
R4067:Pcdhb2	UTSW	18	37297314	splice site	probably null
R4127:Pcdhb2	UTSW	18	37295541	missense	probably damaging	0.97
R4402:Pcdhb2	UTSW	18	37295402	missense	probably benign	0.05
R4579:Pcdhb2	UTSW	18	37296115	missense	probably damaging	1.00
R4621:Pcdhb2	UTSW	18	37295927	missense	probably benign	0.44
R4678:Pcdhb2	UTSW	18	37296207	missense	probably damaging	1.00
R5143:Pcdhb2	UTSW	18	37296732	missense	probably damaging	1.00
R5152:Pcdhb2	UTSW	18	37296126	missense	probably damaging	0.97
R6552:Pcdhb2	UTSW	18	37295993	missense	probably benign
R6908:Pcdhb2	UTSW	18	37296524	missense	probably damaging	1.00
R6973:Pcdhb2	UTSW	18	37296363	missense	probably benign	0.03
R7248:Pcdhb2	UTSW	18	37296494	missense	probably damaging	1.00
R7586:Pcdhb2	UTSW	18	37295804	nonsense	probably null
R7634:Pcdhb2	UTSW	18	37294947	intron	probably benign
R7796:Pcdhb2	UTSW	18	37295393	missense	possibly damaging	0.63
R7862:Pcdhb2	UTSW	18	37296060	missense	probably benign	0.25
R8415:Pcdhb2	UTSW	18	37296057	missense	probably damaging	0.97
R8950:Pcdhb2	UTSW	18	37296662	missense	probably damaging	1.00
R9351:Pcdhb2	UTSW	18	37296316	missense	probably damaging	1.00
R9360:Pcdhb2	UTSW	18	37296498	missense	probably damaging	1.00
R9592:Pcdhb2	UTSW	18	37296213	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTCGCTATGAGGTTCAGATC -3'
(R):5'- TGTCTCCAGAGTCAGAATCTGC -3'

Sequencing Primer
(F):5'- CGCTATGAGGTTCAGATCCCAGAG -3'
(R):5'- TAAACACAGCAATTACGGTTTCC -3'

Posted On

2019-05-15