Mutagenetix > Incidental Mutation

Incidental Mutation 'R5180:Plxnb1'

399731

Institutional Source

Beutler Lab

Gene Symbol

Plxnb1

Ensembl Gene

ENSMUSG00000053646

Gene Name

plexin B1

Synonyms

2900002G15Rik

MMRRC Submission

042760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108924457-108948985 bp(+) (GRCm39)

Type of Mutation

splice site (2811 bp from exon)

DNA Base Change (assembly)

C to A at 108940761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8CJH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000072093
AA Change: S1545R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: S1545R

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 null
Transcript: ENSMUST00000192988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195364

Meta Mutation Damage Score

0.5646

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (60/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,416,510 (GRCm39)	T4091A	probably benign	Het
Adgrv1	G	A	13: 81,431,535 (GRCm39)		probably benign	Het
Ago3	C	T	4: 126,261,544 (GRCm39)	V435I	probably benign	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ampd2	G	T	3: 107,986,358 (GRCm39)	Q273K	probably benign	Het
Ankrd35	C	A	3: 96,587,789 (GRCm39)	H109Q	probably damaging	Het
Atpaf2	A	G	11: 60,296,695 (GRCm39)	L153S	possibly damaging	Het
C1qtnf7	G	A	5: 43,773,156 (GRCm39)	V152M	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep295	C	T	9: 15,243,416 (GRCm39)	C1680Y	probably benign	Het
Cyp4f15	A	T	17: 32,909,714 (GRCm39)	I104F	probably benign	Het
Daam1	A	G	12: 71,993,899 (GRCm39)	N434S	unknown	Het
Dab2ip	C	T	2: 35,610,503 (GRCm39)	P782L	possibly damaging	Het
Dhx34	C	A	7: 15,939,405 (GRCm39)	G663*	probably null	Het
Dnah7a	T	C	1: 53,462,446 (GRCm39)	D3715G	probably damaging	Het
Dnajc11	C	T	4: 152,054,396 (GRCm39)	R201C	probably damaging	Het
Erf	A	T	7: 24,945,690 (GRCm39)	I27N	probably damaging	Het
Fbxl7	T	A	15: 26,543,507 (GRCm39)	Y380F	probably damaging	Het
Gm3336	A	G	8: 71,173,110 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm5134	T	C	10: 75,812,200 (GRCm39)	Y152H	probably damaging	Het
Gm6899	A	G	11: 26,543,795 (GRCm39)		probably benign	Het
Gna11	T	C	10: 81,380,707 (GRCm39)	K19E	probably benign	Het
Gpr15	C	A	16: 58,538,248 (GRCm39)	L280F	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Ino80d	C	A	1: 63,125,488 (GRCm39)		probably benign	Het
Irak3	T	G	10: 119,981,687 (GRCm39)	K406T	probably damaging	Het
Kif15	G	A	9: 122,828,275 (GRCm39)	C634Y	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Macrod2	A	T	2: 140,237,636 (GRCm39)	E14V	probably damaging	Het
Matn3	T	A	12: 9,005,374 (GRCm39)	D261E	probably benign	Het
Mdga1	A	T	17: 30,076,710 (GRCm39)		probably benign	Het
Natd1	G	T	11: 60,804,482 (GRCm39)	R24S	probably benign	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Or5b101	A	T	19: 13,004,776 (GRCm39)	S306T	probably benign	Het
Parp9	T	A	16: 35,774,106 (GRCm39)	Y81*	probably null	Het
Pde4d	A	G	13: 109,877,007 (GRCm39)	N73S	probably benign	Het
Pigb	A	T	9: 72,941,872 (GRCm39)	I129N	probably damaging	Het
Ppfibp1	G	T	6: 146,928,819 (GRCm39)	R813L	probably damaging	Het
Ramp3	T	A	11: 6,608,619 (GRCm39)	L16Q	unknown	Het
Slc35a4	T	C	18: 36,815,688 (GRCm39)	S173P	probably benign	Het
Slc41a1	T	C	1: 131,772,115 (GRCm39)	V415A	probably damaging	Het
Smarcc2	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	10: 128,323,231 (GRCm39)		probably benign	Het
Snph	G	A	2: 151,442,307 (GRCm39)	R43W	probably benign	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Supt20	C	A	3: 54,616,506 (GRCm39)	H254Q	probably benign	Het
Taar7a	A	G	10: 23,869,046 (GRCm39)	C112R	probably damaging	Het
Tbc1d4	T	C	14: 101,745,008 (GRCm39)	Y206C	probably damaging	Het
Tecta	A	G	9: 42,248,504 (GRCm39)	V1961A	probably damaging	Het
Tgfbr1	T	A	4: 47,383,948 (GRCm39)	Y30*	probably null	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tnfrsf1b	C	A	4: 144,954,067 (GRCm39)	C94F	probably damaging	Het
Ttn	A	G	2: 76,579,740 (GRCm39)	Y23718H	probably damaging	Het
Ube2i	T	C	17: 25,484,268 (GRCm39)		probably benign	Het
Vmn2r16	G	T	5: 109,478,391 (GRCm39)	V49F	probably benign	Het
Vps45	A	G	3: 95,953,683 (GRCm39)	I223T	possibly damaging	Het
Zfp955a	T	C	17: 33,461,592 (GRCm39)	Y180C	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het
Zscan18	T	A	7: 12,509,216 (GRCm39)		probably benign	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
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'- GAACCTGGAGAGCAGTGTAC -3'
(R):5'- TGTGTGGATGAACTGAGGCC -3'

Sequencing Primer
(F):5'- TGTACGGGACCGCTGTAAG -3'
(R):5'- CTAGCTGAGAGTGCACCTTG -3'

Posted On

2016-07-06