Mutagenetix > Incidental Mutation

Incidental Mutation 'R5005:Plxnb1'

390143

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 #

R5005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108924457-108948985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108935647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1061 (V1061E)

Ref Sequence

ENSEMBL: ENSMUSP00000071966 (fasta)

Gene Model

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

AlphaFold

Q8CJH3

Predicted Effect

probably benign
Transcript: ENSMUST00000072093
AA Change: V1061E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: V1061E

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

noncoding transcript
Transcript: ENSMUST00000192117

Predicted Effect

unknown
Transcript: ENSMUST00000192988
AA Change: V95E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195364

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	C	11: 83,230,218 (GRCm39)	V412A	probably damaging	Het
Asic2	T	C	11: 80,774,252 (GRCm39)	Y455C	probably damaging	Het
Bbx	T	C	16: 50,086,714 (GRCm39)	K61E	probably damaging	Het
Cd207	T	C	6: 83,651,367 (GRCm39)	E196G	possibly damaging	Het
Chn1	T	A	2: 73,490,130 (GRCm39)	Q49L	possibly damaging	Het
Cpd	A	G	11: 76,704,396 (GRCm39)	I406T	probably damaging	Het
D630003M21Rik	C	T	2: 158,053,563 (GRCm39)	V642I	possibly damaging	Het
Dnah7b	C	T	1: 46,281,188 (GRCm39)	L2750F	probably damaging	Het
Epyc	A	G	10: 97,510,562 (GRCm39)	T122A	probably benign	Het
Kcnt1	A	G	2: 25,791,358 (GRCm39)	H567R	probably damaging	Het
Magi2	A	G	5: 20,739,444 (GRCm39)	D729G	probably damaging	Het
Myh4	G	T	11: 67,144,241 (GRCm39)	V1204L	probably benign	Het
Noa1	T	C	5: 77,456,873 (GRCm39)	Y344C	probably damaging	Het
Or1j19	A	G	2: 36,677,370 (GRCm39)	M278V	probably benign	Het
Or4c102	A	G	2: 88,422,348 (GRCm39)	M67V	probably benign	Het
Pex1	T	C	5: 3,672,310 (GRCm39)	S718P	probably damaging	Het
Rdh16f1	A	G	10: 127,624,546 (GRCm39)	Q128R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc26a9	A	T	1: 131,693,625 (GRCm39)	Q705L	probably damaging	Het
Tas2r143	T	A	6: 42,377,658 (GRCm39)	C163S	probably benign	Het
Tigd2	A	G	6: 59,188,131 (GRCm39)	T333A	probably benign	Het
Urb2	T	C	8: 124,757,920 (GRCm39)	V1209A	probably damaging	Het
Vmn2r71	T	A	7: 85,273,352 (GRCm39)	V722D	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
R4901:Plxnb1	UTSW	9	108,934,027 (GRCm39)	missense	probably benign	0.01
R4952:Plxnb1	UTSW	9	108,943,904 (GRCm39)	missense	probably damaging	1.00
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'- GTATCAGGGCTGCTCAAGGTTC -3'
(R):5'- TCCATCTATAGGTCCAGTCAGTG -3'

Sequencing Primer
(F):5'- GGCTGCTCAAGGTTCCATGTTAC -3'
(R):5'- GTGGATCCACCTGTTCCAG -3'

Posted On

2016-06-06