Mutagenetix > Incidental Mutation

Incidental Mutation 'R7593:Nrp2'

587487

Institutional Source

Beutler Lab

Gene Symbol

Nrp2

Ensembl Gene

ENSMUSG00000025969

Gene Name

neuropilin 2

Synonyms

1110048P06Rik, NP-2, Npn-2, NP2, Npn2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7593 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62742476-62857851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62758203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 63 (E63G)

Ref Sequence

ENSEMBL: ENSMUSP00000109794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027112] [ENSMUST00000063594] [ENSMUST00000075144] [ENSMUST00000102822] [ENSMUST00000114155] [ENSMUST00000114157]

AlphaFold

O35375

Predicted Effect

probably benign
Transcript: ENSMUST00000027112
AA Change: E63G

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: E63G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CUB	28	142	3.4e-45	SMART
CUB	149	267	1.04e-40	SMART
FA58C	276	427	1.63e-45	SMART
FA58C	433	592	9.33e-14	SMART
MAM	641	802	2.31e-60	SMART
Pfam:DUF3481	822	906	1.4e-35	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063594
AA Change: E63G

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: E63G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CUB	28	142	3.4e-45	SMART
CUB	149	267	1.04e-40	SMART
FA58C	276	427	1.63e-45	SMART
FA58C	433	592	9.33e-14	SMART
MAM	641	802	2.31e-60	SMART
low complexity region	816	831	N/A	INTRINSIC
Pfam:DUF3481	839	923	1.6e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075144
AA Change: E63G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: E63G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CUB	28	142	3.4e-45	SMART
CUB	149	267	1.04e-40	SMART
FA58C	276	427	1.63e-45	SMART
FA58C	433	592	9.33e-14	SMART
MAM	641	802	2.31e-60	SMART
Pfam:DUF3481	827	911	2.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102822
AA Change: E63G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: E63G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CUB	28	142	3.4e-45	SMART
CUB	149	267	1.04e-40	SMART
FA58C	276	427	1.63e-45	SMART
FA58C	433	592	9.33e-14	SMART
MAM	641	802	2.31e-60	SMART
Pfam:DUF3481	822	906	2.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114155
AA Change: E63G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: E63G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CUB	28	142	3.4e-45	SMART
CUB	149	267	1.04e-40	SMART
FA58C	276	427	1.63e-45	SMART
FA58C	433	592	9.33e-14	SMART
MAM	641	802	2.31e-60	SMART
Pfam:DUF3481	817	901	9.4e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114157
AA Change: E63G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: E63G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CUB	28	142	3.4e-45	SMART
CUB	149	267	1.04e-40	SMART
FA58C	276	427	1.63e-45	SMART
FA58C	433	592	9.33e-14	SMART
MAM	641	802	2.31e-60	SMART
low complexity region	821	836	N/A	INTRINSIC
Pfam:DUF3481	844	928	2.4e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice may exhibit pre- or postnatal lethality, reduced fertility, hydrocephalus, aberrant sensory innervation, reduced interneuron count, seizure susceptibility and abnormal lymphangiogenesis. Homozygotes for a gene trap allele show abnormal neuronal development and axonal trajectories. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,774 (GRCm39)	A170V	probably damaging	Het
Acp6	A	T	3: 97,073,266 (GRCm39)	E102D	probably benign	Het
Acss1	T	A	2: 150,461,688 (GRCm39)	R632*	probably null	Het
Adamtsl1	G	T	4: 86,259,450 (GRCm39)	C832F	probably damaging	Het
Adgrg6	T	G	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Alkbh1	A	T	12: 87,487,095 (GRCm39)	Y91*	probably null	Het
Arhgap35	A	T	7: 16,298,786 (GRCm39)	I93N	probably damaging	Het
Asic2	A	T	11: 81,858,657 (GRCm39)	D118E	probably benign	Het
Asprv1	G	T	6: 86,605,762 (GRCm39)	V203L	probably damaging	Het
Atad2b	G	A	12: 5,081,726 (GRCm39)	D1212N	probably benign	Het
Atp4a	A	G	7: 30,424,105 (GRCm39)	I960V	probably benign	Het
Bin1	G	T	18: 32,552,932 (GRCm39)	E186*	probably null	Het
Bmp10	A	G	6: 87,410,651 (GRCm39)	Y148C	probably damaging	Het
Ccdc152	T	A	15: 3,310,137 (GRCm39)	D246V	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cdh9	A	T	15: 16,823,261 (GRCm39)	D81V	probably damaging	Het
Cep162	A	T	9: 87,086,250 (GRCm39)	S1025T	probably benign	Het
Cidea	A	G	18: 67,493,283 (GRCm39)	I101V	probably benign	Het
Clock	G	A	5: 76,384,145 (GRCm39)	S478L	possibly damaging	Het
Cp	T	A	3: 20,020,494 (GRCm39)	N162K	probably benign	Het
Crb1	C	T	1: 139,164,978 (GRCm39)	E1110K	probably damaging	Het
Cyp2b13	A	T	7: 25,780,416 (GRCm39)	I146L	possibly damaging	Het
D630045J12Rik	A	G	6: 38,172,429 (GRCm39)	S580P	possibly damaging	Het
Dars2	T	C	1: 160,885,113 (GRCm39)	E224G	probably damaging	Het
Dcbld2	A	G	16: 58,244,941 (GRCm39)	T72A	possibly damaging	Het
Ddx11	A	T	17: 66,433,193 (GRCm39)	I8F	possibly damaging	Het
Dennd2d	T	C	3: 106,407,244 (GRCm39)	F432L	probably damaging	Het
Dnah10	T	C	5: 124,823,608 (GRCm39)	V543A	probably benign	Het
Eef2k	G	A	7: 120,488,491 (GRCm39)		probably null	Het
Elmo1	A	G	13: 20,474,610 (GRCm39)	M345V	probably benign	Het
Ephb4	A	G	5: 137,359,560 (GRCm39)	M377V	probably benign	Het
Erbb4	C	A	1: 68,293,758 (GRCm39)	R711L	probably damaging	Het
Fads1	A	G	19: 10,162,361 (GRCm39)	E95G	probably damaging	Het
Farsa	G	A	8: 85,594,278 (GRCm39)		probably null	Het
Galntl6	A	G	8: 58,230,293 (GRCm39)	S42P	probably damaging	Het
Gga2	G	A	7: 121,589,672 (GRCm39)	T559M	probably benign	Het
Glipr1l2	G	A	10: 111,928,465 (GRCm39)	G120D	probably damaging	Het
Gm14226	A	T	2: 154,866,114 (GRCm39)	I24L	unknown	Het
Gprc5b	G	T	7: 118,583,492 (GRCm39)	R126S	probably damaging	Het
Gys1	A	G	7: 45,092,360 (GRCm39)	D321G	probably damaging	Het
Hdlbp	C	T	1: 93,358,005 (GRCm39)	A299T	probably benign	Het
Hic2	A	G	16: 17,076,979 (GRCm39)	T603A	probably damaging	Het
Hoxa11	A	T	6: 52,220,524 (GRCm39)	I253N	probably damaging	Het
Iglon5	A	T	7: 43,126,064 (GRCm39)	D222E	probably benign	Het
Inpp5d	T	A	1: 87,645,500 (GRCm39)	S1023T	possibly damaging	Het
Kif21a	C	T	15: 90,828,064 (GRCm39)	A1233T	probably benign	Het
Kif9	A	T	9: 110,350,421 (GRCm39)	T771S	possibly damaging	Het
Klre1	T	A	6: 129,560,150 (GRCm39)	C141S	probably damaging	Het
Lats1	A	G	10: 7,577,476 (GRCm39)	Y200C	probably damaging	Het
Lgr4	T	A	2: 109,829,801 (GRCm39)	L247H	probably damaging	Het
Lrrc37a	T	C	11: 103,391,778 (GRCm39)	K1216E	probably benign	Het
Lrrc41	G	A	4: 115,950,141 (GRCm39)	R518H	possibly damaging	Het
Lrrk1	A	G	7: 65,958,439 (GRCm39)	V320A	probably benign	Het
Mcm9	C	T	10: 53,506,088 (GRCm39)	R62H	probably benign	Het
Mmp10	T	G	9: 7,503,154 (GRCm39)	L38R	probably damaging	Het
Mroh8	A	G	2: 157,071,867 (GRCm39)	L546P	probably damaging	Het
Mtcl2	A	T	2: 156,882,776 (GRCm39)	D425E	probably benign	Het
Myt1	T	A	2: 181,439,532 (GRCm39)	D393E	possibly damaging	Het
Mzb1	A	T	18: 35,780,901 (GRCm39)	I129N	probably damaging	Het
Nek10	A	G	14: 14,826,955 (GRCm38)	D51G	probably benign	Het
Nme5	A	G	18: 34,700,201 (GRCm39)	I148T	probably benign	Het
Nr2e1	G	A	10: 42,439,475 (GRCm39)	P348L	probably damaging	Het
Or2d2	A	T	7: 106,727,782 (GRCm39)	S273T	probably damaging	Het
Or51ab3	A	T	7: 103,200,956 (GRCm39)		probably benign	Het
Or52e3	A	G	7: 102,869,471 (GRCm39)	E182G	probably damaging	Het
Or52e5	A	G	7: 104,718,704 (GRCm39)	H10R	probably benign	Het
Or56a3	A	G	7: 104,735,372 (GRCm39)	T150A	probably benign	Het
Pak5	A	G	2: 135,942,884 (GRCm39)	S419P	probably benign	Het
Pfas	C	A	11: 68,881,921 (GRCm39)	M25I		Het
Prdm9	A	G	17: 15,764,867 (GRCm39)	S638P	possibly damaging	Het
Psd	G	A	19: 46,301,352 (GRCm39)	T954I	possibly damaging	Het
Psph	T	C	5: 129,864,337 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,069,593 (GRCm39)	I1517T	probably benign	Het
Rassf8	A	G	6: 145,761,129 (GRCm39)	R152G	probably benign	Het
Rfx3	G	A	19: 27,827,139 (GRCm39)	T149I	probably benign	Het
Rfx8	A	T	1: 39,722,838 (GRCm39)	F260I	probably damaging	Het
Rnft1	C	T	11: 86,384,023 (GRCm39)	Q308*	probably null	Het
Rock2	A	G	12: 17,008,241 (GRCm39)	N528S	probably benign	Het
Rpp25l	T	C	4: 41,712,305 (GRCm39)	R157G	unknown	Het
Ryr1	A	T	7: 28,735,528 (GRCm39)	N4083K	probably damaging	Het
Scd1	G	T	19: 44,388,739 (GRCm39)	T237N	probably benign	Het
Sema3d	T	C	5: 12,558,112 (GRCm39)	F215L	probably benign	Het
Sema7a	C	T	9: 57,867,858 (GRCm39)	T478I	probably benign	Het
Sftpc	T	C	14: 70,759,623 (GRCm39)	T99A	possibly damaging	Het
Slc25a4	G	A	8: 46,662,241 (GRCm39)	T139I	probably damaging	Het
Snx27	T	C	3: 94,410,272 (GRCm39)	E468G	possibly damaging	Het
Snx33	T	C	9: 56,834,058 (GRCm39)	K4E	possibly damaging	Het
Soat1	A	T	1: 156,268,148 (GRCm39)	L253*	probably null	Het
Sycp2l	A	T	13: 41,326,192 (GRCm39)	N749I	probably damaging	Het
Synj2bp	A	T	12: 81,557,664 (GRCm39)	I47N	probably damaging	Het
Tmem82	T	A	4: 141,343,605 (GRCm39)	I222F	probably damaging	Het
Ube2o	A	T	11: 116,471,905 (GRCm39)	L112Q	possibly damaging	Het
Vmn1r204	G	A	13: 22,740,754 (GRCm39)	W128*	probably null	Het
Vmn2r114	A	T	17: 23,510,817 (GRCm39)	Y554*	probably null	Het
Vmn2r62	A	T	7: 42,437,213 (GRCm39)	Y424N	possibly damaging	Het
Vmn2r70	A	T	7: 85,215,312 (GRCm39)	L74*	probably null	Het
Vmp1	T	A	11: 86,477,377 (GRCm39)	Y341F	probably benign	Het
Vps13a	A	T	19: 16,703,027 (GRCm39)	V642D	probably damaging	Het
Vps33a	T	C	5: 123,674,619 (GRCm39)	M383V	probably benign	Het
Vwf	G	A	6: 125,624,731 (GRCm39)	V1827I		Het
Zc3hav1	A	G	6: 38,306,121 (GRCm39)	Y644H	probably benign	Het
Zfp429	A	C	13: 67,538,410 (GRCm39)	C345G	probably damaging	Het
Zfp595	T	C	13: 67,464,823 (GRCm39)	H483R	probably benign	Het
Zfp748	G	T	13: 67,690,638 (GRCm39)	H207Q	probably benign	Het
Zfp758	T	C	17: 22,593,939 (GRCm39)	S142P	probably damaging	Het
Znfx1	A	C	2: 166,898,145 (GRCm39)	S260A	probably benign	Het

Other mutations in Nrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Nrp2	APN	1	62,743,410 (GRCm39)	nonsense	probably null
IGL01912:Nrp2	APN	1	62,810,896 (GRCm39)	missense	probably damaging	1.00
IGL01996:Nrp2	APN	1	62,788,419 (GRCm39)	missense	probably damaging	1.00
IGL02184:Nrp2	APN	1	62,758,099 (GRCm39)	nonsense	probably null
IGL02682:Nrp2	APN	1	62,810,996 (GRCm39)	missense	probably benign	0.03
IGL02928:Nrp2	APN	1	62,854,605 (GRCm39)	missense	probably damaging	1.00
IGL03024:Nrp2	APN	1	62,810,893 (GRCm39)	missense	probably damaging	1.00
Euphorbia	UTSW	1	62,801,972 (GRCm39)	missense	probably benign	0.02
Sabra	UTSW	1	62,822,680 (GRCm39)	missense	probably damaging	1.00
R0068:Nrp2	UTSW	1	62,784,536 (GRCm39)	missense	possibly damaging	0.95
R0068:Nrp2	UTSW	1	62,784,536 (GRCm39)	missense	possibly damaging	0.95
R0683:Nrp2	UTSW	1	62,783,477 (GRCm39)	missense	probably benign	0.41
R0789:Nrp2	UTSW	1	62,784,609 (GRCm39)	missense	probably benign	0.44
R1418:Nrp2	UTSW	1	62,822,491 (GRCm39)	nonsense	probably null
R1468:Nrp2	UTSW	1	62,777,458 (GRCm39)	missense	probably damaging	1.00
R1468:Nrp2	UTSW	1	62,777,458 (GRCm39)	missense	probably damaging	1.00
R1544:Nrp2	UTSW	1	62,802,063 (GRCm39)	missense	probably damaging	1.00
R1645:Nrp2	UTSW	1	62,824,283 (GRCm39)	missense	probably damaging	0.97
R1677:Nrp2	UTSW	1	62,822,479 (GRCm39)	missense	probably benign	0.18
R1752:Nrp2	UTSW	1	62,777,600 (GRCm39)	missense	probably damaging	1.00
R1840:Nrp2	UTSW	1	62,777,498 (GRCm39)	missense	probably damaging	1.00
R1916:Nrp2	UTSW	1	62,801,906 (GRCm39)	missense	probably damaging	1.00
R1962:Nrp2	UTSW	1	62,758,090 (GRCm39)	missense	probably benign	0.03
R2108:Nrp2	UTSW	1	62,783,436 (GRCm39)	missense	probably damaging	1.00
R2164:Nrp2	UTSW	1	62,783,514 (GRCm39)	missense	probably damaging	1.00
R2216:Nrp2	UTSW	1	62,802,077 (GRCm39)	nonsense	probably null
R2679:Nrp2	UTSW	1	62,824,237 (GRCm39)	missense	probably benign	0.00
R4349:Nrp2	UTSW	1	62,777,576 (GRCm39)	missense	probably damaging	1.00
R4351:Nrp2	UTSW	1	62,777,576 (GRCm39)	missense	probably damaging	1.00
R4352:Nrp2	UTSW	1	62,777,576 (GRCm39)	missense	probably damaging	1.00
R4353:Nrp2	UTSW	1	62,777,576 (GRCm39)	missense	probably damaging	1.00
R4811:Nrp2	UTSW	1	62,758,240 (GRCm39)	missense	probably damaging	1.00
R5362:Nrp2	UTSW	1	62,808,221 (GRCm39)	missense	probably benign	0.01
R5387:Nrp2	UTSW	1	62,801,972 (GRCm39)	missense	probably benign	0.02
R5461:Nrp2	UTSW	1	62,786,370 (GRCm39)	nonsense	probably null
R5704:Nrp2	UTSW	1	62,824,267 (GRCm39)	missense	probably benign	0.00
R6143:Nrp2	UTSW	1	62,799,974 (GRCm39)	missense	probably damaging	1.00
R6303:Nrp2	UTSW	1	62,784,565 (GRCm39)	missense	probably damaging	1.00
R6304:Nrp2	UTSW	1	62,784,565 (GRCm39)	missense	probably damaging	1.00
R6376:Nrp2	UTSW	1	62,758,176 (GRCm39)	missense	possibly damaging	0.65
R6945:Nrp2	UTSW	1	62,799,947 (GRCm39)	missense	probably damaging	1.00
R7347:Nrp2	UTSW	1	62,784,663 (GRCm39)	missense	probably benign	0.04
R7393:Nrp2	UTSW	1	62,784,583 (GRCm39)	missense	probably damaging	0.98
R7881:Nrp2	UTSW	1	62,810,990 (GRCm39)	missense	probably benign	0.42
R7882:Nrp2	UTSW	1	62,822,680 (GRCm39)	missense	probably damaging	1.00
R7948:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R7958:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R7959:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R7960:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R7961:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8009:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8012:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8014:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8015:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8068:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8069:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8070:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8071:Nrp2	UTSW	1	62,784,567 (GRCm39)	missense	probably damaging	1.00
R8206:Nrp2	UTSW	1	62,786,374 (GRCm39)	missense	probably damaging	1.00
R8791:Nrp2	UTSW	1	62,788,356 (GRCm39)	missense	probably damaging	1.00
R9090:Nrp2	UTSW	1	62,784,670 (GRCm39)	missense	probably benign	0.21
R9271:Nrp2	UTSW	1	62,784,670 (GRCm39)	missense	probably benign	0.21
R9287:Nrp2	UTSW	1	62,835,014 (GRCm39)	missense	probably damaging	1.00
R9469:Nrp2	UTSW	1	62,804,030 (GRCm39)	missense	probably damaging	1.00
R9646:Nrp2	UTSW	1	62,777,566 (GRCm39)	missense	probably damaging	1.00
R9752:Nrp2	UTSW	1	62,851,726 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTTGCCATAAAAGGTTCTC -3'
(R):5'- TGCCATGTTTAAGTGGCCCTC -3'

Sequencing Primer
(F):5'- ACAGTTGTAATCAGCTACTGGG -3'
(R):5'- AAGTGGCCCTCTGTGGCTAG -3'

Posted On

2019-10-24