Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Plxnb2'

514288

Institutional Source

Beutler Lab

Gene Symbol

Plxnb2

Ensembl Gene

ENSMUSG00000036606

Gene Name

plexin B2

Synonyms

Debt, 1110007H23Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R6351 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

89155549-89180788 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89157770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1642 (N1642S)

Ref Sequence

ENSEMBL: ENSMUSP00000104955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060808] [ENSMUST00000109331]

AlphaFold

B2RXS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060808
AA Change: N1642S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051731
Gene: ENSMUSG00000036606
AA Change: N1642S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Sema	34	452	8.87e-92	SMART
PSI	470	521	1.94e-10	SMART
PSI	616	669	4.09e-1	SMART
PSI	761	804	7.02e-8	SMART
IPT	805	896	8.14e-19	SMART
IPT	897	983	1.1e-15	SMART
IPT	985	1096	5.06e-6	SMART
Pfam:Plexin_cytopl	1275	1809	1.6e-225	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109331
AA Change: N1642S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104955
Gene: ENSMUSG00000036606
AA Change: N1642S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Sema	34	452	8.87e-92	SMART
PSI	470	521	1.94e-10	SMART
PSI	616	669	4.09e-1	SMART
PSI	761	804	7.02e-8	SMART
IPT	805	896	8.14e-19	SMART
IPT	897	983	1.1e-15	SMART
IPT	985	1096	5.06e-6	SMART
Pfam:Plexin_cytopl	1274	1809	4.4e-251	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230393

Meta Mutation Damage Score

0.1754

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a targeted mutation of this gene die perinatally of exencephaly or survive and seem normal despite severe abnormalities in cerebellar layering and foliation; the external granule cell layer is disorganized due to continued proliferation and migration of differentiated granule cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	C	T	19: 11,142,401	G14D	probably damaging	Het
4932438A13Rik	G	A	3: 36,908,228	A493T	probably damaging	Het
Acaa1a	C	A	9: 119,341,564	S17*	probably null	Het
Adamts16	T	A	13: 70,836,203	S114C	probably damaging	Het
Agpat5	T	C	8: 18,846,708	V50A	probably benign	Het
Agrn	T	C	4: 156,179,434	N124S	probably benign	Het
AI481877	T	C	4: 59,069,317	D703G	probably benign	Het
Ak8	T	C	2: 28,735,626	I227T	probably benign	Het
Akap6	A	G	12: 53,142,025	E2074G	probably damaging	Het
Apc	T	A	18: 34,312,212	S702R	probably damaging	Het
Ascc3	T	C	10: 50,720,673	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,385,832	F318I	probably damaging	Het
Bnc2	T	C	4: 84,293,143	T397A	probably benign	Het
Bpifb4	C	T	2: 153,957,134	T528I	probably damaging	Het
Brinp3	A	G	1: 146,901,585	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,385,135	S372P	probably benign	Het
Cdhr2	A	G	13: 54,726,776	H887R	probably benign	Het
Clcn6	C	T	4: 148,017,500	V376I	probably benign	Het
Cntln	T	G	4: 85,115,354	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,892,644	D1564G	probably benign	Het
Cux1	A	T	5: 136,309,792	S582T	probably damaging	Het
Cwh43	G	A	5: 73,411,905	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,086,769	F781L	probably damaging	Het
Dsc3	G	T	18: 19,966,291	H723N	probably benign	Het
Ear10	A	T	14: 43,923,055	V105D	probably damaging	Het
Ecel1	A	G	1: 87,149,509	V659A	possibly damaging	Het
Eogt	A	T	6: 97,120,194	F316I	probably damaging	Het
Etaa1	T	C	11: 17,947,188	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,469,708	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,941,742	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,977,599	Y178H	probably damaging	Het
Fat1	A	T	8: 45,033,495	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,938,398	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,992,684	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,413,780	T299A	probably damaging	Het
Gbp11	T	C	5: 105,327,598	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203	Q44*	probably null	Het
Gpc5	A	T	14: 115,399,200	T432S	probably benign	Het
Grhl1	G	A	12: 24,584,858	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,709		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ints9	A	G	14: 64,993,007	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,375,112	N130I	probably damaging	Het
Krba1	T	C	6: 48,414,128	V717A	probably benign	Het
Lrp12	T	A	15: 39,878,188	D377V	probably damaging	Het
Magi1	G	T	6: 93,943,229	D135E	possibly damaging	Het
Map10	T	A	8: 125,671,245	L459Q	probably damaging	Het
Mitf	A	G	6: 98,003,912	D238G	possibly damaging	Het
Mylk	G	T	16: 34,921,971	R951L	probably benign	Het
Nacad	T	A	11: 6,599,235	D1272V	probably damaging	Het
Nacad	T	A	11: 6,600,165	K1009*	probably null	Het
Ncor1	T	C	11: 62,373,298	D786G	probably benign	Het
Oas2	G	A	5: 120,748,538	R188C	probably benign	Het
Odf2l	A	G	3: 145,135,718	I300V	probably benign	Het
Olfr1502	A	G	19: 13,861,822	T10A	probably benign	Het
Olfr338	T	A	2: 36,377,196	V140D	possibly damaging	Het
Olfr484	A	G	7: 108,124,430	S278P	probably damaging	Het
Olfr624	A	G	7: 103,670,956	I25T	possibly damaging	Het
Olfr64	A	T	7: 103,893,135	L200*	probably null	Het
Pes1	T	A	11: 3,978,865	D574E	probably benign	Het
Phf20	C	T	2: 156,294,210	R650C	possibly damaging	Het
Pias4	G	A	10: 81,157,264	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,211,951	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,102,167		probably null	Het
Plekha7	A	G	7: 116,176,898	F194L	probably damaging	Het
Pnpla7	A	T	2: 25,011,564	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,554,879	S279C	probably damaging	Het
Ptprq	T	A	10: 107,708,668	T334S	probably damaging	Het
Rab39	T	C	9: 53,686,521	D148G	probably benign	Het
Reep3	A	T	10: 67,034,653	F121L	probably benign	Het
Reln	G	T	5: 21,901,663	C3236*	probably null	Het
Rrp8	C	T	7: 105,734,809	C162Y	probably damaging	Het
Scrib	C	A	15: 76,064,986	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,489,799	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,201,824	V63A	possibly damaging	Het
Slc46a1	T	C	11: 78,467,159	M346T	probably benign	Het
Sycp2	A	G	2: 178,363,416	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,874,759	I105F	probably benign	Het
Thumpd1	A	T	7: 119,720,605	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,127,853	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 69,773,401	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439	T455A	probably benign	Het
Tox	T	C	4: 6,741,536	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,269,945	S109R	probably damaging	Het
Tshz2	A	T	2: 169,884,968	T26S	probably benign	Het
Tubb4a	T	A	17: 57,081,016	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,401,388	V119E	probably damaging	Het
Unk	C	T	11: 116,054,946	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,601,278	T44I	probably benign	Het
Vstm5	G	A	9: 15,257,533	G131D	probably damaging	Het
Wscd1	T	C	11: 71,759,883	L12P	probably damaging	Het
Zfp369	T	A	13: 65,296,230	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,009,343	C302*	probably null	Het
Zfp972	A	T	2: 177,906,935		probably null	Het
Zfyve21	C	A	12: 111,827,594	A212E	probably benign	Het

Other mutations in Plxnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Plxnb2	APN	15	89162366	splice site	probably benign
IGL01574:Plxnb2	APN	15	89162683	splice site	probably null
IGL01695:Plxnb2	APN	15	89157214	missense	possibly damaging	0.96
IGL01763:Plxnb2	APN	15	89161981	splice site	probably null
IGL01921:Plxnb2	APN	15	89164271	missense	possibly damaging	0.78
IGL02129:Plxnb2	APN	15	89160410	missense	probably benign	0.04
IGL02153:Plxnb2	APN	15	89165813	nonsense	probably null
IGL02637:Plxnb2	APN	15	89164057	missense	possibly damaging	0.53
IGL02892:Plxnb2	APN	15	89161222	critical splice donor site	probably null
IGL03108:Plxnb2	APN	15	89158031	missense	probably benign	0.32
IGL03115:Plxnb2	APN	15	89162438	splice site	probably benign
P0040:Plxnb2	UTSW	15	89162935	missense	probably damaging	1.00
R0022:Plxnb2	UTSW	15	89163276	critical splice donor site	probably null
R0095:Plxnb2	UTSW	15	89165331	missense	probably benign
R0103:Plxnb2	UTSW	15	89161769	missense	possibly damaging	0.85
R0544:Plxnb2	UTSW	15	89158613	splice site	probably benign
R0671:Plxnb2	UTSW	15	89157981	missense	probably benign	0.14
R1279:Plxnb2	UTSW	15	89162321	missense	probably benign	0.02
R1530:Plxnb2	UTSW	15	89167192	missense	probably benign
R1542:Plxnb2	UTSW	15	89165921	missense	probably damaging	1.00
R1610:Plxnb2	UTSW	15	89158493	missense	probably damaging	1.00
R1686:Plxnb2	UTSW	15	89162462	missense	probably damaging	1.00
R1702:Plxnb2	UTSW	15	89161984	critical splice donor site	probably null
R1996:Plxnb2	UTSW	15	89158768	missense	probably benign	0.13
R1997:Plxnb2	UTSW	15	89158768	missense	probably benign	0.13
R2031:Plxnb2	UTSW	15	89162810	nonsense	probably null
R2049:Plxnb2	UTSW	15	89159002	missense	probably damaging	1.00
R2072:Plxnb2	UTSW	15	89158451	missense	probably damaging	1.00
R2076:Plxnb2	UTSW	15	89158026	missense	probably damaging	1.00
R2140:Plxnb2	UTSW	15	89156562	missense	probably benign	0.04
R2418:Plxnb2	UTSW	15	89161069	missense	possibly damaging	0.72
R2419:Plxnb2	UTSW	15	89161069	missense	possibly damaging	0.72
R3752:Plxnb2	UTSW	15	89157255	splice site	probably benign
R3825:Plxnb2	UTSW	15	89166399	missense	probably benign	0.05
R4154:Plxnb2	UTSW	15	89159642	missense	probably damaging	0.98
R4197:Plxnb2	UTSW	15	89157018	missense	probably damaging	1.00
R4385:Plxnb2	UTSW	15	89160623	missense	probably damaging	0.96
R4434:Plxnb2	UTSW	15	89162803	missense	probably damaging	1.00
R4678:Plxnb2	UTSW	15	89160928	missense	probably benign	0.37
R4717:Plxnb2	UTSW	15	89157419	nonsense	probably null
R4773:Plxnb2	UTSW	15	89166947	missense	probably benign	0.06
R4905:Plxnb2	UTSW	15	89157411	missense	probably damaging	1.00
R5368:Plxnb2	UTSW	15	89159593	missense	possibly damaging	0.94
R5418:Plxnb2	UTSW	15	89166491	missense	probably benign	0.00
R5484:Plxnb2	UTSW	15	89164209	splice site	probably null
R5520:Plxnb2	UTSW	15	89167543	missense	possibly damaging	0.65
R5566:Plxnb2	UTSW	15	89164020	missense	probably benign	0.05
R5568:Plxnb2	UTSW	15	89157435	missense	probably damaging	1.00
R5619:Plxnb2	UTSW	15	89162809	missense	possibly damaging	0.92
R5685:Plxnb2	UTSW	15	89167032	missense	probably damaging	1.00
R5688:Plxnb2	UTSW	15	89158696	missense	probably damaging	1.00
R5809:Plxnb2	UTSW	15	89167571	missense	possibly damaging	0.61
R5813:Plxnb2	UTSW	15	89160759	missense	possibly damaging	0.81
R5866:Plxnb2	UTSW	15	89167572	missense	probably damaging	1.00
R6016:Plxnb2	UTSW	15	89161022	missense	possibly damaging	0.55
R6117:Plxnb2	UTSW	15	89158000	missense	probably benign	0.04
R6187:Plxnb2	UTSW	15	89167258	missense	probably damaging	1.00
R6260:Plxnb2	UTSW	15	89165291	missense	probably benign	0.22
R6263:Plxnb2	UTSW	15	89161986	missense	probably damaging	0.99
R6269:Plxnb2	UTSW	15	89160713	missense	probably benign	0.18
R6522:Plxnb2	UTSW	15	89164426	missense	probably benign	0.18
R6856:Plxnb2	UTSW	15	89164320	missense	probably benign	0.27
R6930:Plxnb2	UTSW	15	89160389	missense	probably benign
R7354:Plxnb2	UTSW	15	89165725	missense	possibly damaging	0.92
R7513:Plxnb2	UTSW	15	89158322	critical splice acceptor site	probably null
R7522:Plxnb2	UTSW	15	89161774	missense	probably benign	0.20
R7730:Plxnb2	UTSW	15	89162330	missense	probably benign
R7766:Plxnb2	UTSW	15	89161271	missense	probably benign	0.01
R7781:Plxnb2	UTSW	15	89157022	missense	possibly damaging	0.89
R8126:Plxnb2	UTSW	15	89163303	missense	probably benign
R8131:Plxnb2	UTSW	15	89158713	missense	probably damaging	1.00
R8372:Plxnb2	UTSW	15	89158493	missense	probably damaging	1.00
R8736:Plxnb2	UTSW	15	89162058	missense	probably damaging	1.00
R8772:Plxnb2	UTSW	15	89162746	missense	probably damaging	1.00
R9022:Plxnb2	UTSW	15	89164268	missense	possibly damaging	0.59
R9044:Plxnb2	UTSW	15	89160363	splice site	probably benign
R9253:Plxnb2	UTSW	15	89167812	missense	probably benign
R9398:Plxnb2	UTSW	15	89160919	missense	probably benign	0.02
R9562:Plxnb2	UTSW	15	89165933	missense	probably damaging	1.00
R9568:Plxnb2	UTSW	15	89160957	nonsense	probably null
R9613:Plxnb2	UTSW	15	89164293	missense	probably benign	0.01
X0027:Plxnb2	UTSW	15	89160713	missense	probably benign	0.18
Z1177:Plxnb2	UTSW	15	89159096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGAAGTGGTAAACTGCAGC -3'
(R):5'- CATCACAGAGATCTACCTGACG -3'

Sequencing Primer
(F):5'- TAAACTGCAGCGGGGAGAC -3'
(R):5'- TATTGCCTCCAGTGTGTC -3'

Posted On

2018-04-27