Mutagenetix > Incidental Mutation

Incidental Mutation 'R7866:Plxnb1'

607787

Institutional Source

Beutler Lab

Gene Symbol

Plxnb1

Ensembl Gene

ENSMUSG00000053646

Gene Name

plexin B1

Synonyms

2900002G15Rik

MMRRC Submission

045918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108924457-108948985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108929525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 127 (I127N)

Ref Sequence

ENSEMBL: ENSMUSP00000071966 (fasta)

Gene Model

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

AlphaFold

Q8CJH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000072093
AA Change: I127N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: I127N

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 damaging
Transcript: ENSMUST00000130366
AA Change: I127N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114358
Gene: ENSMUSG00000053646
AA Change: I127N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131462
AA Change: I127N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115265
Gene: ENSMUSG00000053646
AA Change: I127N

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: ENSMUST00000192988

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,317,269 (GRCm39)	R194*	probably null	Het
Actl6a	A	G	3: 32,766,262 (GRCm39)	T39A	possibly damaging	Het
Adamts6	T	A	13: 104,550,257 (GRCm39)	C624*	probably null	Het
Adgrl1	T	C	8: 84,664,564 (GRCm39)		probably null	Het
Ap3m2	A	G	8: 23,289,674 (GRCm39)	V143A	probably benign	Het
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Aqp5	T	A	15: 99,489,424 (GRCm39)	V91E	probably damaging	Het
Atp6v0b	A	T	4: 117,742,350 (GRCm39)	I181N	probably damaging	Het
Ccp110	T	A	7: 118,322,241 (GRCm39)	M632K	probably benign	Het
Cd44	A	T	2: 102,672,604 (GRCm39)		probably null	Het
Cidea	G	A	18: 67,491,854 (GRCm39)	R38Q	probably damaging	Het
Cnn3	T	C	3: 121,245,042 (GRCm39)	I86T	probably benign	Het
Col14a1	C	A	15: 55,252,016 (GRCm39)	D557E	unknown	Het
Col6a6	T	C	9: 105,566,760 (GRCm39)	Y2245C	probably damaging	Het
Dhrs4	A	T	14: 55,725,092 (GRCm39)	N196Y	probably damaging	Het
Dnah8	T	C	17: 31,093,901 (GRCm39)	V4665A	possibly damaging	Het
Dpep2	T	C	8: 106,716,113 (GRCm39)	T267A		Het
Dtx3l	T	A	16: 35,759,120 (GRCm39)	Q43L	probably benign	Het
Ednrb	A	G	14: 104,080,738 (GRCm39)	S59P	probably benign	Het
Eml4	A	G	17: 83,758,126 (GRCm39)	T435A	probably benign	Het
Fam135b	A	T	15: 71,333,925 (GRCm39)	F1090I	probably benign	Het
Filip1	A	G	9: 79,726,225 (GRCm39)	V798A	probably benign	Het
Fnip1	T	G	11: 54,356,228 (GRCm39)		probably benign	Het
Gabrb2	C	T	11: 42,378,050 (GRCm39)	Q89*	probably null	Het
Gtf2ird1	A	T	5: 134,392,063 (GRCm39)	V882E	probably benign	Het
Gucy1a2	T	A	9: 3,532,804 (GRCm39)	M1K	probably null	Het
Ift70b	A	G	2: 75,766,963 (GRCm39)	S597P	possibly damaging	Het
Igkv10-96	T	A	6: 68,609,025 (GRCm39)	D90V	possibly damaging	Het
Igkv4-54	G	A	6: 69,608,740 (GRCm39)	R60C	probably benign	Het
Igkv7-33	G	T	6: 70,035,847 (GRCm39)	A45D	probably damaging	Het
Klk1b22	A	T	7: 43,762,168 (GRCm39)	I15F	possibly damaging	Het
Lamp3	T	A	16: 19,518,490 (GRCm39)	D249V	probably benign	Het
Lrrfip2	T	C	9: 111,022,149 (GRCm39)	V125A	possibly damaging	Het
Mprip	G	A	11: 59,643,756 (GRCm39)	R638H	possibly damaging	Het
Muc5ac	A	G	7: 141,349,589 (GRCm39)	M501V	probably benign	Het
Myo5a	C	T	9: 75,111,034 (GRCm39)	P1509S	probably damaging	Het
Ngdn	A	G	14: 55,258,554 (GRCm39)	Y63C	probably damaging	Het
Oit3	A	G	10: 59,259,852 (GRCm39)	V517A	probably benign	Het
Or8g21	A	T	9: 38,906,027 (GRCm39)	S235T	not run	Het
Pcdhb18	T	A	18: 37,623,512 (GRCm39)	F281I	probably damaging	Het
Pkd1	C	A	17: 24,809,881 (GRCm39)	Q3520K	probably benign	Het
Ppfia2	A	T	10: 106,655,390 (GRCm39)	N319I	probably damaging	Het
Pxn	T	C	5: 115,686,665 (GRCm39)	S386P	possibly damaging	Het
Ralgps2	C	T	1: 156,714,738 (GRCm39)	V104I	probably benign	Het
Rp1	C	T	1: 4,417,924 (GRCm39)	V1063I	probably benign	Het
Slc10a5	A	T	3: 10,399,532 (GRCm39)	F376Y	probably damaging	Het
Snd1	T	A	6: 28,527,724 (GRCm39)	I277N	probably damaging	Het
Spc25	A	G	2: 69,036,406 (GRCm39)		probably null	Het
Tex29	A	G	8: 11,894,055 (GRCm39)	N6D	unknown	Het
Top6bl	T	A	19: 4,748,514 (GRCm39)	R61S	unknown	Het
Ttc6	G	A	12: 57,721,435 (GRCm39)	A975T	probably damaging	Het
Uba6	T	C	5: 86,320,560 (GRCm39)	E13G	probably damaging	Het
Ugcg	T	G	4: 59,211,927 (GRCm39)	C98G	possibly damaging	Het
Ugt2b36	T	A	5: 87,240,190 (GRCm39)	D65V	probably damaging	Het
Unc93b1	A	T	19: 3,985,243 (GRCm39)	D17V	not run	Het
Usf1	G	T	1: 171,245,462 (GRCm39)	W291C	unknown	Het
Vps29	T	C	5: 122,500,180 (GRCm39)	W97R	possibly damaging	Het
Zbtb6	T	C	2: 37,319,577 (GRCm39)	E117G	probably damaging	Het
Zfp735	A	C	11: 73,601,629 (GRCm39)	D191A	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
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
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'- CTATGTAGGGGCCACCAACTTC -3'
(R):5'- CGGGTTGTAATGGGAGGAATCC -3'

Sequencing Primer
(F):5'- AACTTCCTGTTCCAGTTGAGC -3'
(R):5'- GGAGGAATCCCACCACCTAC -3'

Posted On

2019-12-20