Mutagenetix > Incidental Mutation

Incidental Mutation 'R4901:Plxnb1'

376169

Institutional Source

Beutler Lab

Gene Symbol

Plxnb1

Ensembl Gene

ENSMUSG00000053646

Gene Name

plexin B1

Synonyms

2900002G15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108924457-108948985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108934027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 752 (P752S)

Ref Sequence

ENSEMBL: ENSMUSP00000071966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072093] [ENSMUST00000130366] [ENSMUST00000131462]

AlphaFold

Q8CJH3

Predicted Effect

probably benign
Transcript: ENSMUST00000072093
AA Change: P752S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: P752S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Sema	35	463	5.84e-101	SMART
PSI	481	534	1.17e-13	SMART
PSI	628	678	6.97e-3	SMART
low complexity region	691	706	N/A	INTRINSIC
low complexity region	752	771	N/A	INTRINSIC
PSI	1019	1066	2.06e-5	SMART
IPT	1067	1158	7.48e-18	SMART
IPT	1159	1247	3.97e-22	SMART
IPT	1249	1359	6.09e-9	SMART
low complexity region	1483	1494	N/A	INTRINSIC
Pfam:Plexin_cytopl	1546	2086	6.5e-230	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130366

SMART Domains

Protein: ENSMUSP00000114358
Gene: ENSMUSG00000053646

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sema	35	138	7.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131462

SMART Domains

Protein: ENSMUSP00000115265
Gene: ENSMUSG00000053646

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sema	35	138	7.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192117

Predicted Effect

silent
Transcript: ENSMUST00000192988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195364

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants are viable and fertile and show no apparent defects in development, adult histology or basic functional parameters. However, a transitory renal phenotype, characterized by increased ureteric branching and enlarged kidneys, is noted over early stages of renal development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,188,954 (GRCm39)		probably null	Het
Arg2	T	C	12: 79,194,485 (GRCm39)	V103A	probably damaging	Het
Bicra	T	A	7: 15,721,526 (GRCm39)	T664S	possibly damaging	Het
Bptf	A	T	11: 107,001,686 (GRCm39)	Y475*	probably null	Het
Calcrl	T	C	2: 84,163,857 (GRCm39)	I445V	probably benign	Het
Ccdc110	G	A	8: 46,396,437 (GRCm39)	R776Q	probably benign	Het
Ccnc	A	G	4: 21,727,894 (GRCm39)	N4S	probably damaging	Het
Ccni	G	A	5: 93,331,003 (GRCm39)	R323W	probably damaging	Het
Celsr2	T	A	3: 108,314,303 (GRCm39)	M1241L	possibly damaging	Het
Cpd	T	C	11: 76,681,707 (GRCm39)	I1145M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2j8	T	A	4: 96,367,323 (GRCm39)	D265V	probably benign	Het
Dennd2a	T	C	6: 39,499,621 (GRCm39)	T315A	probably benign	Het
Dgkz	T	A	2: 91,767,076 (GRCm39)	Q905L	probably benign	Het
Dnah8	G	A	17: 31,059,688 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Gm136	G	A	4: 34,746,580 (GRCm39)	Q144*	probably null	Het
Gon4l	T	C	3: 88,815,458 (GRCm39)	V2008A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Isyna1	A	T	8: 71,049,246 (GRCm39)	H414L	probably damaging	Het
Kif20b	A	G	19: 34,911,836 (GRCm39)	Y233C	probably benign	Het
Klk1	A	T	7: 43,878,139 (GRCm39)	I132F	probably damaging	Het
Klre1	A	T	6: 129,561,188 (GRCm39)	H183L	probably benign	Het
Lrp1b	T	C	2: 40,711,657 (GRCm39)	T3188A	probably damaging	Het
Mapk12	A	T	15: 89,018,841 (GRCm39)	L198*	probably null	Het
Mt4	A	C	8: 94,864,912 (GRCm39)	T29P	possibly damaging	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Nr1h4	T	C	10: 89,314,659 (GRCm39)	Q269R	possibly damaging	Het
Or4p23	C	G	2: 88,577,231 (GRCm39)		probably null	Het
Or51e1	A	G	7: 102,359,405 (GRCm39)	H313R	probably benign	Het
Pde1b	A	G	15: 103,435,112 (GRCm39)	I421V	probably null	Het
Pde3b	A	T	7: 114,107,425 (GRCm39)	T519S	probably damaging	Het
Phf21a	T	A	2: 92,187,346 (GRCm39)	C178*	probably null	Het
Phtf2	A	G	5: 21,010,722 (GRCm39)	S88P	possibly damaging	Het
Pik3c3	A	G	18: 30,435,982 (GRCm39)	M394V	possibly damaging	Het
Pp2d1	C	A	17: 53,822,037 (GRCm39)	G343V	probably benign	Het
Ppp6r2	A	G	15: 89,143,272 (GRCm39)	I140V	possibly damaging	Het
Ppp6r3	C	A	19: 3,517,229 (GRCm39)	V75L	probably damaging	Het
Ptprq	T	A	10: 107,524,275 (GRCm39)	H486L	probably benign	Het
Rasgrf1	C	T	9: 89,877,056 (GRCm39)	T807M	probably benign	Het
Rasgrp3	C	A	17: 75,821,111 (GRCm39)	Y439*	probably null	Het
Rbm44	A	G	1: 91,081,050 (GRCm39)	T413A	probably benign	Het
Rnf135	T	C	11: 80,089,662 (GRCm39)	C333R	probably damaging	Het
Scfd2	A	G	5: 74,680,226 (GRCm39)	V309A	probably damaging	Het
Semp2l1	T	C	1: 32,585,701 (GRCm39)	S70G	probably benign	Het
Serpina3m	A	T	12: 104,355,908 (GRCm39)	K192*	probably null	Het
Sft2d1rt	A	G	11: 45,942,656 (GRCm39)	S156P	probably damaging	Het
Sh3tc2	A	G	18: 62,123,506 (GRCm39)	I756V	probably benign	Het
Slc27a4	T	C	2: 29,702,648 (GRCm39)	V516A	probably damaging	Het
Sult2a5	T	A	7: 13,359,188 (GRCm39)	C55S	probably benign	Het
Tars3	C	T	7: 65,341,042 (GRCm39)	T783M	probably benign	Het
Tet2	A	T	3: 133,172,805 (GRCm39)	I1819N	possibly damaging	Het
Timeless	T	C	10: 128,086,631 (GRCm39)	F1057L	probably damaging	Het
Ttn	T	A	2: 76,628,418 (GRCm39)	I12835F	probably damaging	Het
Uhrf1	T	A	17: 56,617,834 (GRCm39)	D185E	probably benign	Het
Vmn2r74	G	T	7: 85,605,199 (GRCm39)	S483*	probably null	Het
Xpo1	A	T	11: 23,231,327 (GRCm39)	I304F	possibly damaging	Het
Zc3h11a	A	G	1: 133,552,449 (GRCm39)	S553P	probably benign	Het
Zdhhc1	A	G	8: 106,199,484 (GRCm39)	S402P	probably benign	Het
Zwilch	T	C	9: 64,070,028 (GRCm39)	Y101C	probably damaging	Het

Other mutations in Plxnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Plxnb1	APN	9	108,942,936 (GRCm39)	missense	probably benign	0.04
IGL01014:Plxnb1	APN	9	108,935,102 (GRCm39)	missense	probably benign	0.00
IGL01142:Plxnb1	APN	9	108,931,765 (GRCm39)	missense	probably benign	0.05
IGL01454:Plxnb1	APN	9	108,942,422 (GRCm39)	missense	probably damaging	1.00
IGL01469:Plxnb1	APN	9	108,934,483 (GRCm39)	intron	probably benign
IGL01530:Plxnb1	APN	9	108,939,473 (GRCm39)	missense	probably benign	0.02
IGL01599:Plxnb1	APN	9	108,939,672 (GRCm39)	missense	probably damaging	1.00
IGL01968:Plxnb1	APN	9	108,930,052 (GRCm39)	missense	probably benign	0.00
IGL02175:Plxnb1	APN	9	108,929,914 (GRCm39)	missense	possibly damaging	0.85
IGL02216:Plxnb1	APN	9	108,929,918 (GRCm39)	missense	probably damaging	1.00
IGL02277:Plxnb1	APN	9	108,941,201 (GRCm39)	missense	probably damaging	1.00
IGL02311:Plxnb1	APN	9	108,930,190 (GRCm39)	missense	probably benign
IGL02645:Plxnb1	APN	9	108,943,311 (GRCm39)	splice site	probably benign
IGL03076:Plxnb1	APN	9	108,935,970 (GRCm39)	missense	probably damaging	0.96
IGL03107:Plxnb1	APN	9	108,934,054 (GRCm39)	missense	probably benign
IGL03343:Plxnb1	APN	9	108,943,780 (GRCm39)	missense	probably damaging	1.00
PIT4431001:Plxnb1	UTSW	9	108,929,786 (GRCm39)	missense	probably damaging	1.00
R0117:Plxnb1	UTSW	9	108,934,286 (GRCm39)	missense	possibly damaging	0.93
R0211:Plxnb1	UTSW	9	108,932,731 (GRCm39)	nonsense	probably null
R0211:Plxnb1	UTSW	9	108,932,731 (GRCm39)	nonsense	probably null
R0843:Plxnb1	UTSW	9	108,942,769 (GRCm39)	missense	probably benign	0.20
R0970:Plxnb1	UTSW	9	108,932,331 (GRCm39)	missense	probably damaging	1.00
R0973:Plxnb1	UTSW	9	108,931,210 (GRCm39)	missense	possibly damaging	0.47
R1342:Plxnb1	UTSW	9	108,929,720 (GRCm39)	missense	possibly damaging	0.87
R1386:Plxnb1	UTSW	9	108,930,091 (GRCm39)	missense	probably benign	0.27
R1419:Plxnb1	UTSW	9	108,943,454 (GRCm39)	missense	probably damaging	1.00
R1445:Plxnb1	UTSW	9	108,937,989 (GRCm39)	missense	probably null
R1548:Plxnb1	UTSW	9	108,929,968 (GRCm39)	missense	possibly damaging	0.95
R1621:Plxnb1	UTSW	9	108,935,873 (GRCm39)	missense	probably benign	0.04
R1658:Plxnb1	UTSW	9	108,931,939 (GRCm39)	nonsense	probably null
R1727:Plxnb1	UTSW	9	108,930,125 (GRCm39)	splice site	probably null
R1750:Plxnb1	UTSW	9	108,940,836 (GRCm39)	missense	probably benign	0.00
R1795:Plxnb1	UTSW	9	108,929,813 (GRCm39)	missense	probably benign
R1929:Plxnb1	UTSW	9	108,931,776 (GRCm39)	splice site	probably null
R1935:Plxnb1	UTSW	9	108,924,715 (GRCm39)	critical splice donor site	probably null
R1936:Plxnb1	UTSW	9	108,924,715 (GRCm39)	critical splice donor site	probably null
R2014:Plxnb1	UTSW	9	108,935,687 (GRCm39)	splice site	probably benign
R2057:Plxnb1	UTSW	9	108,938,294 (GRCm39)	missense	possibly damaging	0.71
R2102:Plxnb1	UTSW	9	108,944,810 (GRCm39)	missense	probably damaging	1.00
R2271:Plxnb1	UTSW	9	108,931,776 (GRCm39)	splice site	probably null
R2422:Plxnb1	UTSW	9	108,937,506 (GRCm39)	missense	probably benign	0.02
R2881:Plxnb1	UTSW	9	108,943,480 (GRCm39)	missense	probably damaging	1.00
R3409:Plxnb1	UTSW	9	108,935,681 (GRCm39)	splice site	probably null
R3417:Plxnb1	UTSW	9	108,929,828 (GRCm39)	missense	probably damaging	0.97
R3756:Plxnb1	UTSW	9	108,942,526 (GRCm39)	unclassified	probably benign
R3788:Plxnb1	UTSW	9	108,938,355 (GRCm39)	missense	possibly damaging	0.89
R3789:Plxnb1	UTSW	9	108,938,355 (GRCm39)	missense	possibly damaging	0.89
R4042:Plxnb1	UTSW	9	108,934,241 (GRCm39)	missense	probably benign	0.00
R4289:Plxnb1	UTSW	9	108,943,420 (GRCm39)	missense	probably damaging	1.00
R4396:Plxnb1	UTSW	9	108,929,291 (GRCm39)	missense	possibly damaging	0.51
R4564:Plxnb1	UTSW	9	108,942,488 (GRCm39)	missense	probably benign	0.10
R4676:Plxnb1	UTSW	9	108,939,503 (GRCm39)	missense	possibly damaging	0.63
R4706:Plxnb1	UTSW	9	108,941,096 (GRCm39)	missense	probably damaging	1.00
R4792:Plxnb1	UTSW	9	108,939,716 (GRCm39)	missense	probably damaging	1.00
R4796:Plxnb1	UTSW	9	108,943,663 (GRCm39)	missense	probably damaging	1.00
R4835:Plxnb1	UTSW	9	108,934,442 (GRCm39)	missense	probably damaging	0.96
R4952:Plxnb1	UTSW	9	108,943,904 (GRCm39)	missense	probably damaging	1.00
R5005:Plxnb1	UTSW	9	108,935,647 (GRCm39)	missense	probably benign	0.00
R5015:Plxnb1	UTSW	9	108,929,498 (GRCm39)	missense	possibly damaging	0.95
R5029:Plxnb1	UTSW	9	108,943,723 (GRCm39)	missense	probably damaging	1.00
R5180:Plxnb1	UTSW	9	108,940,761 (GRCm39)	splice site	probably null
R5256:Plxnb1	UTSW	9	108,943,661 (GRCm39)	missense	probably damaging	1.00
R5285:Plxnb1	UTSW	9	108,937,527 (GRCm39)	missense	probably damaging	0.99
R5431:Plxnb1	UTSW	9	108,929,840 (GRCm39)	missense	probably damaging	1.00
R5444:Plxnb1	UTSW	9	108,935,521 (GRCm39)	missense	probably benign	0.22
R5546:Plxnb1	UTSW	9	108,929,818 (GRCm39)	missense	probably damaging	1.00
R5852:Plxnb1	UTSW	9	108,935,518 (GRCm39)	missense	probably damaging	1.00
R5892:Plxnb1	UTSW	9	108,940,775 (GRCm39)	missense	probably damaging	1.00
R6020:Plxnb1	UTSW	9	108,945,679 (GRCm39)	missense	probably damaging	1.00
R6053:Plxnb1	UTSW	9	108,940,775 (GRCm39)	missense	probably damaging	1.00
R6177:Plxnb1	UTSW	9	108,931,993 (GRCm39)	splice site	probably null
R6193:Plxnb1	UTSW	9	108,933,971 (GRCm39)	missense	probably benign
R6274:Plxnb1	UTSW	9	108,941,209 (GRCm39)	critical splice donor site	probably null
R6310:Plxnb1	UTSW	9	108,938,796 (GRCm39)	missense	probably damaging	0.96
R6404:Plxnb1	UTSW	9	108,945,705 (GRCm39)	missense	probably damaging	1.00
R6422:Plxnb1	UTSW	9	108,937,992 (GRCm39)	missense	probably damaging	1.00
R6479:Plxnb1	UTSW	9	108,940,733 (GRCm39)	missense	possibly damaging	0.92
R6555:Plxnb1	UTSW	9	108,937,473 (GRCm39)	critical splice acceptor site	probably null
R6646:Plxnb1	UTSW	9	108,937,895 (GRCm39)	missense	probably benign
R6648:Plxnb1	UTSW	9	108,933,398 (GRCm39)	missense	probably benign	0.14
R6661:Plxnb1	UTSW	9	108,933,367 (GRCm39)	missense	possibly damaging	0.94
R6674:Plxnb1	UTSW	9	108,937,214 (GRCm39)	missense	probably benign	0.00
R6734:Plxnb1	UTSW	9	108,937,988 (GRCm39)	nonsense	probably null
R6859:Plxnb1	UTSW	9	108,935,838 (GRCm39)	missense	probably damaging	1.00
R6948:Plxnb1	UTSW	9	108,945,702 (GRCm39)	missense	probably damaging	0.96
R7030:Plxnb1	UTSW	9	108,941,375 (GRCm39)	missense	probably damaging	1.00
R7038:Plxnb1	UTSW	9	108,929,453 (GRCm39)	missense	probably damaging	1.00
R7204:Plxnb1	UTSW	9	108,929,243 (GRCm39)	missense	probably damaging	1.00
R7427:Plxnb1	UTSW	9	108,937,236 (GRCm39)	missense	probably benign	0.01
R7428:Plxnb1	UTSW	9	108,937,236 (GRCm39)	missense	probably benign	0.01
R7443:Plxnb1	UTSW	9	108,943,675 (GRCm39)	missense	probably damaging	1.00
R7527:Plxnb1	UTSW	9	108,929,929 (GRCm39)	missense	probably damaging	0.99
R7645:Plxnb1	UTSW	9	108,943,480 (GRCm39)	missense	probably damaging	1.00
R7680:Plxnb1	UTSW	9	108,929,571 (GRCm39)	nonsense	probably null
R7866:Plxnb1	UTSW	9	108,929,525 (GRCm39)	missense	probably damaging	0.98
R7898:Plxnb1	UTSW	9	108,943,408 (GRCm39)	missense	probably damaging	1.00
R7905:Plxnb1	UTSW	9	108,938,300 (GRCm39)	missense	probably damaging	1.00
R8092:Plxnb1	UTSW	9	108,929,573 (GRCm39)	missense	probably damaging	1.00
R8150:Plxnb1	UTSW	9	108,941,146 (GRCm39)	missense	probably damaging	0.98
R8286:Plxnb1	UTSW	9	108,935,870 (GRCm39)	missense	probably damaging	1.00
R8290:Plxnb1	UTSW	9	108,938,687 (GRCm39)	missense	probably benign	0.00
R8987:Plxnb1	UTSW	9	108,937,178 (GRCm39)	splice site	probably benign
R9176:Plxnb1	UTSW	9	108,941,651 (GRCm39)	missense	probably damaging	1.00
R9231:Plxnb1	UTSW	9	108,934,286 (GRCm39)	missense	possibly damaging	0.59
R9698:Plxnb1	UTSW	9	108,925,251 (GRCm39)	start gained	probably benign
Z1177:Plxnb1	UTSW	9	108,937,989 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GGATGAACTCACCCCTTTCC -3'
(R):5'- CCTGGGAAAGTAGTGTCTGGAAC -3'

Sequencing Primer
(F):5'- GAACTCACCCCTTTCCCACCC -3'
(R):5'- GTCCAGAGCCACCATGGAAG -3'

Posted On

2016-03-17