Mutagenetix > Incidental Mutation

Incidental Mutation 'R6734:Plxnb1'

528347

Institutional Source

Beutler Lab

Gene Symbol

Plxnb1

Ensembl Gene

ENSMUSG00000053646

Gene Name

plexin B1

Synonyms

2900002G15Rik

MMRRC Submission

044852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108924457-108948985 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 108937988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1245 (K1245*)

Ref Sequence

ENSEMBL: ENSMUSP00000071966 (fasta)

Gene Model

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

AlphaFold

Q8CJH3

Predicted Effect

probably null
Transcript: ENSMUST00000072093
AA Change: K1245*

SMART Domains

Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: K1245*

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

probably benign
Transcript: ENSMUST00000192988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195364

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Ano6	A	G	15: 95,847,417 (GRCm39)	K554R	probably damaging	Het
Arhgef10	A	T	8: 15,025,053 (GRCm39)	I703F	probably damaging	Het
Bbs1	T	C	19: 4,953,924 (GRCm39)	S80G	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Camk1	C	A	6: 113,311,345 (GRCm39)	R352L	probably benign	Het
Cand1	G	A	10: 119,047,897 (GRCm39)	P531L	possibly damaging	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Col24a1	C	A	3: 145,214,429 (GRCm39)	P1384Q	probably benign	Het
Csmd2	C	A	4: 128,357,606 (GRCm39)	T1689K	probably benign	Het
Cyp26a1	T	A	19: 37,689,660 (GRCm39)	L452H	probably damaging	Het
Dcpp2	T	C	17: 24,119,545 (GRCm39)	Y120H	probably damaging	Het
Dennd6a	G	T	14: 26,329,774 (GRCm39)	R115L	possibly damaging	Het
Eml2	T	A	7: 18,934,432 (GRCm39)	V377E	probably benign	Het
Fam135b	T	C	15: 71,334,629 (GRCm39)	E855G	probably benign	Het
Fam149a	A	T	8: 45,834,478 (GRCm39)	I107K	probably benign	Het
Fam227b	A	T	2: 125,968,896 (GRCm39)	Y59*	probably null	Het
Fbn2	T	C	18: 58,169,032 (GRCm39)	E2249G	probably damaging	Het
Flrt1	T	C	19: 7,073,524 (GRCm39)	D341G	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gsdma2	A	G	11: 98,540,416 (GRCm39)	T112A	possibly damaging	Het
Klhl24	T	C	16: 19,926,279 (GRCm39)	V269A	probably damaging	Het
Lcorl	A	G	5: 45,890,839 (GRCm39)	S505P	probably damaging	Het
Liph	A	G	16: 21,802,707 (GRCm39)	S121P	probably damaging	Het
Lrp4	G	A	2: 91,316,242 (GRCm39)	V787M	possibly damaging	Het
Lrrd1	A	C	5: 3,900,226 (GRCm39)	D177A	possibly damaging	Het
Mbd1	G	A	18: 74,409,114 (GRCm39)	R399H	probably damaging	Het
Naa25	C	T	5: 121,576,888 (GRCm39)	T879M	possibly damaging	Het
Naa35	T	G	13: 59,756,005 (GRCm39)	L147R	possibly damaging	Het
Ninl	C	A	2: 150,787,003 (GRCm39)		probably null	Het
Nrap	T	C	19: 56,333,941 (GRCm39)	D972G	probably damaging	Het
Or9k7	A	G	10: 130,046,126 (GRCm39)	F291S	probably benign	Het
Pdzd2	T	C	15: 12,592,551 (GRCm39)	E31G	probably damaging	Het
Plec	C	T	15: 76,078,603 (GRCm39)	E41K	probably damaging	Het
Ppfia1	T	C	7: 144,032,790 (GRCm39)	T1263A	probably damaging	Het
Prex2	G	A	1: 11,150,283 (GRCm39)	V152I	probably damaging	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prss3l	T	C	6: 41,422,321 (GRCm39)	Y28C	probably damaging	Het
Prune2	T	G	19: 16,981,097 (GRCm39)	F85V	probably damaging	Het
Rrp1b	T	G	17: 32,274,278 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,864,609 (GRCm39)	T158A	probably benign	Het
Sema6a	G	A	18: 47,412,236 (GRCm39)	T526I	probably benign	Het
Shank1	G	T	7: 44,003,110 (GRCm39)	A1610S	probably benign	Het
Slc24a4	T	C	12: 102,185,259 (GRCm39)	V123A	probably damaging	Het
Stk11ip	T	C	1: 75,509,013 (GRCm39)	V714A	probably benign	Het
Tas1r3	T	C	4: 155,945,257 (GRCm39)	T655A	probably damaging	Het
Tns2	G	T	15: 102,011,551 (GRCm39)	L10F	probably damaging	Het
Trmt10c	A	G	16: 55,854,489 (GRCm39)	V382A	probably benign	Het
Unc45a	G	C	7: 79,986,746 (GRCm39)	T149R	probably damaging	Het
Zhx3	T	G	2: 160,623,640 (GRCm39)	I176L	probably damaging	Het
Zscan12	T	A	13: 21,552,966 (GRCm39)	C263*	probably null	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
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
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'- TACACAGCGGAGACTTCAGTG -3'
(R):5'- CCTCAAATTGGTTCATTCATGACC -3'

Sequencing Primer
(F):5'- CCTAAGTGAGCCAAGATTTGAGTG -3'
(R):5'- CCCATTCTGTCAACAGTAAGGAGTTC -3'

Posted On

2018-07-24