Mutagenetix > Incidental Mutation

Incidental Mutation 'R8505:Neo1'

655523

Institutional Source

Beutler Lab

Gene Symbol

Neo1

Ensembl Gene

ENSMUSG00000032340

Gene Name

neogenin

Synonyms

2610028H22Rik, D930014N22Rik, Igdcc2

MMRRC Submission

067841-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58781970-58943724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58820566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 786 (V786L)

Ref Sequence

ENSEMBL: ENSMUSP00000063656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068664] [ENSMUST00000214547]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000068664
AA Change: V786L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: V786L

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
IGc2	76	147	9.49e-5	SMART
IGc2	175	239	4.43e-5	SMART
IGc2	272	338	6.15e-13	SMART
IGc2	364	428	7.76e-10	SMART
low complexity region	446	458	N/A	INTRINSIC
FN3	470	553	8.23e-12	SMART
FN3	570	649	1.78e-16	SMART
FN3	665	749	1.54e-11	SMART
FN3	770	849	5.27e-10	SMART
FN3	885	970	7.63e-7	SMART
FN3	986	1072	2.78e-9	SMART
transmembrane domain	1136	1158	N/A	INTRINSIC
Pfam:Neogenin_C	1189	1492	1.9e-122	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214547
AA Change: V786L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,593,471 (GRCm39)	K289N	probably damaging	Het
Adamts5	C	A	16: 85,696,944 (GRCm39)	S71I	probably benign	Het
Astn2	T	C	4: 65,299,825 (GRCm39)	Y1308C	unknown	Het
Cfap54	A	C	10: 92,814,855 (GRCm39)	M1326R	probably benign	Het
Chga	A	G	12: 102,528,004 (GRCm39)	E165G	probably damaging	Het
Corin	T	A	5: 72,592,750 (GRCm39)	I216F	probably benign	Het
D930048N14Rik	GGG	GGGG	11: 51,541,946 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,797,145 (GRCm39)	W2198R	probably damaging	Het
Hs3st3a1	T	A	11: 64,411,614 (GRCm39)	M384K	possibly damaging	Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Ighv1-37	A	T	12: 114,860,248 (GRCm39)	V15E	probably benign	Het
Kank4	G	A	4: 98,673,913 (GRCm39)		probably benign	Het
Mical2	C	A	7: 111,919,007 (GRCm39)	T432N	probably benign	Het
Morn1	A	C	4: 155,177,792 (GRCm39)	E201A	unknown	Het
Myo5c	T	A	9: 75,153,423 (GRCm39)	I103N	probably damaging	Het
Nelfe	G	A	17: 35,073,779 (GRCm39)		probably null	Het
Nrxn2	T	A	19: 6,540,163 (GRCm39)	V821E	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,084 (GRCm38)	F111S		Het
Rapgef2	G	A	3: 78,986,349 (GRCm39)	R1064*	probably null	Het
Rpusd2	A	G	2: 118,869,007 (GRCm39)	I477V	probably benign	Het
Rrm2	A	G	12: 24,759,384 (GRCm39)	I128V	probably benign	Het
Ryr3	A	T	2: 112,506,215 (GRCm39)	V3469E	probably damaging	Het
Sowahb	T	A	5: 93,190,450 (GRCm39)	E756D	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Stk35	C	T	2: 129,643,649 (GRCm39)	A211V	probably damaging	Het
Ston1	A	G	17: 88,943,017 (GRCm39)	H141R	probably benign	Het
Tcaf2	A	G	6: 42,606,475 (GRCm39)	I493T	probably benign	Het
Them4	A	T	3: 94,224,847 (GRCm39)	T75S	probably benign	Het
Tjp2	T	C	19: 24,088,438 (GRCm39)	D723G	probably null	Het
Tnn	T	C	1: 159,973,593 (GRCm39)	D258G	probably damaging	Het
Ttn	A	G	2: 76,745,779 (GRCm39)	I5090T	probably benign	Het
Ubr4	G	A	4: 139,156,880 (GRCm39)	G1013S		Het
Utp20	A	G	10: 88,653,870 (GRCm39)	L250P	probably benign	Het
Vmn1r199	A	G	13: 22,567,317 (GRCm39)	T204A	probably benign	Het
Zfp518b	T	C	5: 38,830,119 (GRCm39)	T629A	probably benign	Het

Other mutations in Neo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Neo1	APN	9	58,829,202 (GRCm39)	splice site	probably benign
IGL00885:Neo1	APN	9	58,795,746 (GRCm39)	missense	probably damaging	1.00
IGL01103:Neo1	APN	9	58,788,082 (GRCm39)	missense	possibly damaging	0.60
IGL01322:Neo1	APN	9	58,814,368 (GRCm39)	missense	possibly damaging	0.68
IGL02216:Neo1	APN	9	58,824,336 (GRCm39)	missense	probably damaging	0.96
IGL02327:Neo1	APN	9	58,810,371 (GRCm39)	missense	probably benign	0.08
IGL02392:Neo1	APN	9	58,833,094 (GRCm39)	missense	possibly damaging	0.49
IGL02458:Neo1	APN	9	58,801,150 (GRCm39)	splice site	probably benign
IGL03057:Neo1	APN	9	58,785,342 (GRCm39)	missense	probably damaging	1.00
IGL03091:Neo1	APN	9	58,885,951 (GRCm39)	missense	probably damaging	0.98
IGL03193:Neo1	APN	9	58,815,767 (GRCm39)	missense	probably damaging	1.00
R0097:Neo1	UTSW	9	58,882,021 (GRCm38)	intron	probably benign
R0419:Neo1	UTSW	9	58,897,463 (GRCm39)	splice site	probably benign
R0571:Neo1	UTSW	9	58,893,069 (GRCm39)	missense	probably benign
R0646:Neo1	UTSW	9	58,838,317 (GRCm39)	missense	probably damaging	1.00
R0736:Neo1	UTSW	9	58,824,364 (GRCm39)	missense	possibly damaging	0.78
R0739:Neo1	UTSW	9	58,829,160 (GRCm39)	missense	probably benign	0.22
R1636:Neo1	UTSW	9	58,820,560 (GRCm39)	missense	probably damaging	1.00
R1694:Neo1	UTSW	9	58,787,886 (GRCm39)	missense	probably damaging	1.00
R1827:Neo1	UTSW	9	58,824,314 (GRCm39)	nonsense	probably null
R1927:Neo1	UTSW	9	58,897,668 (GRCm39)	missense	probably benign	0.12
R2354:Neo1	UTSW	9	58,892,917 (GRCm39)	missense	probably benign
R2365:Neo1	UTSW	9	58,863,286 (GRCm39)	missense	probably benign
R3156:Neo1	UTSW	9	58,796,262 (GRCm39)	splice site	probably null
R3552:Neo1	UTSW	9	58,801,161 (GRCm39)	missense	probably damaging	1.00
R3829:Neo1	UTSW	9	58,820,452 (GRCm39)	missense	possibly damaging	0.58
R4477:Neo1	UTSW	9	58,784,582 (GRCm39)	missense	probably damaging	0.99
R4613:Neo1	UTSW	9	58,796,324 (GRCm39)	missense	possibly damaging	0.94
R5023:Neo1	UTSW	9	58,897,554 (GRCm39)	missense	probably damaging	1.00
R5046:Neo1	UTSW	9	58,801,194 (GRCm39)	missense	possibly damaging	0.77
R5057:Neo1	UTSW	9	58,897,554 (GRCm39)	missense	probably damaging	1.00
R5323:Neo1	UTSW	9	58,813,931 (GRCm39)	critical splice donor site	probably null
R5394:Neo1	UTSW	9	58,897,517 (GRCm39)	missense	probably benign	0.10
R5470:Neo1	UTSW	9	58,838,350 (GRCm39)	missense	probably damaging	1.00
R5473:Neo1	UTSW	9	58,788,126 (GRCm39)	missense	possibly damaging	0.88
R5500:Neo1	UTSW	9	58,824,337 (GRCm39)	missense	possibly damaging	0.94
R5503:Neo1	UTSW	9	58,892,933 (GRCm39)	missense	possibly damaging	0.67
R6122:Neo1	UTSW	9	58,824,291 (GRCm39)	missense	probably benign
R6191:Neo1	UTSW	9	58,796,312 (GRCm39)	missense	probably damaging	1.00
R6431:Neo1	UTSW	9	58,814,354 (GRCm39)	missense	probably benign	0.27
R6560:Neo1	UTSW	9	58,787,884 (GRCm39)	missense	possibly damaging	0.95
R6658:Neo1	UTSW	9	58,829,132 (GRCm39)	missense	probably benign	0.14
R6772:Neo1	UTSW	9	58,810,259 (GRCm39)	missense	probably damaging	1.00
R6912:Neo1	UTSW	9	58,824,335 (GRCm39)	missense	probably benign	0.00
R7061:Neo1	UTSW	9	58,897,724 (GRCm39)	missense	possibly damaging	0.95
R7145:Neo1	UTSW	9	58,796,462 (GRCm39)	missense	probably damaging	1.00
R7156:Neo1	UTSW	9	58,810,206 (GRCm39)	missense	probably damaging	1.00
R7485:Neo1	UTSW	9	58,791,826 (GRCm39)	missense	probably benign	0.04
R7519:Neo1	UTSW	9	58,785,348 (GRCm39)	missense	probably benign	0.13
R7615:Neo1	UTSW	9	58,791,786 (GRCm39)	missense	probably benign	0.07
R7665:Neo1	UTSW	9	58,833,078 (GRCm39)	missense	probably damaging	1.00
R7695:Neo1	UTSW	9	58,810,212 (GRCm39)	missense	possibly damaging	0.81
R7753:Neo1	UTSW	9	58,863,288 (GRCm39)	missense	probably benign	0.00
R7807:Neo1	UTSW	9	58,897,777 (GRCm39)	missense	probably benign	0.01
R7915:Neo1	UTSW	9	58,838,264 (GRCm39)	missense	probably benign	0.42
R7973:Neo1	UTSW	9	58,897,476 (GRCm39)	missense	probably damaging	1.00
R8356:Neo1	UTSW	9	58,785,402 (GRCm39)	missense	probably damaging	1.00
R8700:Neo1	UTSW	9	58,825,913 (GRCm39)	missense	probably benign	0.28
R8798:Neo1	UTSW	9	58,820,449 (GRCm39)	missense	probably damaging	1.00
R8952:Neo1	UTSW	9	58,897,545 (GRCm39)	missense	probably benign	0.01
R9779:Neo1	UTSW	9	58,886,009 (GRCm39)	nonsense	probably null
R9784:Neo1	UTSW	9	58,889,503 (GRCm39)	missense	probably benign
R9789:Neo1	UTSW	9	58,801,307 (GRCm39)	critical splice acceptor site	probably null
X0063:Neo1	UTSW	9	58,897,581 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GACATGCATGGTTATCCCTTCC -3'
(R):5'- CTAACAGCTGGCTTTGGTGC -3'

Sequencing Primer
(F):5'- ATGGTTATCCCTTCCACCTAGCAAG -3'
(R):5'- CTTGTTCCAAACAGGTTTCTAGTTTG -3'

Posted On

2020-10-20