Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Neo1'

591867

Institutional Source

Beutler Lab

Gene Symbol

Neo1

Ensembl Gene

ENSMUSG00000032340

Gene Name

neogenin

Synonyms

2610028H22Rik, D930014N22Rik, Igdcc2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58874687-59036441 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58925795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 556 (S556P)

Ref Sequence

ENSEMBL: ENSMUSP00000063656 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000068664
AA Change: S556P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: S556P

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

probably damaging
Transcript: ENSMUST00000214547
AA Change: S556P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216964
AA Change: S283P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.9138

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 114,874,323		probably null	Het
A830018L16Rik	T	C	1: 11,972,099	S448P	probably damaging	Het
Abca4	C	T	3: 122,044,490		probably benign	Het
Ackr2	A	G	9: 121,909,308	M250V	probably benign	Het
Actn4	A	G	7: 28,916,207	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,499,142	S3093N	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Brwd1	G	A	16: 96,041,343	T798M	probably benign	Het
Cdk13	G	A	13: 17,772,553	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,460,634	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,976,700	E1420G	unknown	Het
Dbf4	G	A	5: 8,397,867	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,407,419	N239S	probably benign	Het
Dnttip1	A	G	2: 164,754,141	D102G	probably damaging	Het
Dpp8	T	A	9: 65,078,718	V830D	probably damaging	Het
Eef1g	T	C	19: 8,968,289	V29A	probably benign	Het
Enpp2	T	A	15: 54,839,394	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,006,016	L23P	possibly damaging	Het
Epp13	G	A	7: 6,269,892		probably null	Het
Exoc1	T	A	5: 76,543,573	M248K	probably benign	Het
Fam83b	T	C	9: 76,490,875	Y982C	probably damaging	Het
Fat4	C	T	3: 38,889,178	A740V	probably benign	Het
Fsip2	T	A	2: 82,981,805	S2823T	probably benign	Het
Gckr	T	C	5: 31,297,555			Het
Gpr150	A	T	13: 76,055,974	V284E	probably damaging	Het
Grtp1	T	G	8: 13,177,103	I344L	probably benign	Het
Heatr5a	T	A	12: 51,961,530	N10I	probably damaging	Het
Herc2	C	A	7: 56,153,155	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,317,935	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Itfg1	A	G	8: 85,764,350	F317L	probably benign	Het
Itsn1	T	C	16: 91,841,603	I764T	unknown	Het
Med8	A	C	4: 118,411,656		probably null	Het
Mpeg1	C	A	19: 12,463,094	P639T	probably damaging	Het
Nedd9	A	G	13: 41,316,309	L456P	probably benign	Het
Nphp3	T	A	9: 104,005,393		probably null	Het
Nup205	T	C	6: 35,177,620	V53A	possibly damaging	Het
Nvl	A	T	1: 181,134,944	S154T	probably benign	Het
Olfr239	G	T	17: 33,199,629	G194*	probably null	Het
Olfr391-ps	A	T	11: 73,798,961	N265K	probably benign	Het
Olfr615	A	T	7: 103,561,316	I280F	probably benign	Het
Olfr706	A	T	7: 106,886,673	V48D	possibly damaging	Het
Olfr827	T	A	10: 130,211,261		probably null	Het
Olfr92	A	G	17: 37,111,391	M197T	probably benign	Het
Parvg	T	C	15: 84,337,801	I243T	probably damaging	Het
Paxip1	T	A	5: 27,765,738	M538L	unknown	Het
Pgghg	G	T	7: 140,945,469	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,654,050	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,607,157	K398T	probably benign	Het
Plxna1	A	T	6: 89,324,538		probably null	Het
Rbbp6	T	C	7: 122,994,686	Y514H	possibly damaging	Het
Rbbp6	T	A	7: 122,990,032		probably null	Het
Scin	T	A	12: 40,069,415	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144	D121G	probably benign	Het
Sgk1	T	C	10: 21,996,662	I311T	probably damaging	Het
Shq1	A	C	6: 100,573,756	L407W	probably damaging	Het
Sipa1	A	T	19: 5,651,671	S979T	probably benign	Het
Slc25a37	G	T	14: 69,249,579	T85K	probably benign	Het
Soga3	T	A	10: 29,196,397	Y562N	probably damaging	Het
Spag9	A	T	11: 94,013,654	Q112L	probably damaging	Het
Spg11	A	T	2: 122,066,267	V1686E	probably damaging	Het
Stap2	A	G	17: 55,997,909	V291A	probably benign	Het
Tnk2	C	T	16: 32,680,526	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,720,951	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,680,474	S1426P	probably benign	Het
Vav1	G	A	17: 57,297,086	V163M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,988	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,296,562	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,463,581	T153A	probably benign	Het
Zyx	A	G	6: 42,356,162	E374G	probably damaging	Het

Other mutations in Neo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Neo1	APN	9	58921919	splice site	probably benign
IGL00885:Neo1	APN	9	58888463	missense	probably damaging	1.00
IGL01103:Neo1	APN	9	58880799	missense	possibly damaging	0.60
IGL01322:Neo1	APN	9	58907085	missense	possibly damaging	0.68
IGL02216:Neo1	APN	9	58917053	missense	probably damaging	0.96
IGL02327:Neo1	APN	9	58903088	missense	probably benign	0.08
IGL02392:Neo1	APN	9	58925811	missense	possibly damaging	0.49
IGL02458:Neo1	APN	9	58893867	splice site	probably benign
IGL03057:Neo1	APN	9	58878059	missense	probably damaging	1.00
IGL03091:Neo1	APN	9	58978668	missense	probably damaging	0.98
IGL03193:Neo1	APN	9	58908484	missense	probably damaging	1.00
R0097:Neo1	UTSW	9	58882021	intron	probably benign
R0419:Neo1	UTSW	9	58990180	splice site	probably benign
R0571:Neo1	UTSW	9	58985786	missense	probably benign
R0646:Neo1	UTSW	9	58931034	missense	probably damaging	1.00
R0736:Neo1	UTSW	9	58917081	missense	possibly damaging	0.78
R0739:Neo1	UTSW	9	58921877	missense	probably benign	0.22
R1636:Neo1	UTSW	9	58913277	missense	probably damaging	1.00
R1694:Neo1	UTSW	9	58880603	missense	probably damaging	1.00
R1827:Neo1	UTSW	9	58917031	nonsense	probably null
R1927:Neo1	UTSW	9	58990385	missense	probably benign	0.12
R2354:Neo1	UTSW	9	58985634	missense	probably benign
R2365:Neo1	UTSW	9	58956003	missense	probably benign
R3156:Neo1	UTSW	9	58888979	splice site	probably null
R3552:Neo1	UTSW	9	58893878	missense	probably damaging	1.00
R3829:Neo1	UTSW	9	58913169	missense	possibly damaging	0.58
R4477:Neo1	UTSW	9	58877299	missense	probably damaging	0.99
R4613:Neo1	UTSW	9	58889041	missense	possibly damaging	0.94
R5023:Neo1	UTSW	9	58990271	missense	probably damaging	1.00
R5046:Neo1	UTSW	9	58893911	missense	possibly damaging	0.77
R5057:Neo1	UTSW	9	58990271	missense	probably damaging	1.00
R5323:Neo1	UTSW	9	58906648	critical splice donor site	probably null
R5394:Neo1	UTSW	9	58990234	missense	probably benign	0.10
R5470:Neo1	UTSW	9	58931067	missense	probably damaging	1.00
R5473:Neo1	UTSW	9	58880843	missense	possibly damaging	0.88
R5500:Neo1	UTSW	9	58917054	missense	possibly damaging	0.94
R5503:Neo1	UTSW	9	58985650	missense	possibly damaging	0.67
R6122:Neo1	UTSW	9	58917008	missense	probably benign
R6191:Neo1	UTSW	9	58889029	missense	probably damaging	1.00
R6431:Neo1	UTSW	9	58907071	missense	probably benign	0.27
R6560:Neo1	UTSW	9	58880601	missense	possibly damaging	0.95
R6658:Neo1	UTSW	9	58921849	missense	probably benign	0.14
R6772:Neo1	UTSW	9	58902976	missense	probably damaging	1.00
R6912:Neo1	UTSW	9	58917052	missense	probably benign	0.00
R7061:Neo1	UTSW	9	58990441	missense	possibly damaging	0.95
R7145:Neo1	UTSW	9	58889179	missense	probably damaging	1.00
R7156:Neo1	UTSW	9	58902923	missense	probably damaging	1.00
R7485:Neo1	UTSW	9	58884543	missense	probably benign	0.04
R7519:Neo1	UTSW	9	58878065	missense	probably benign	0.13
R7615:Neo1	UTSW	9	58884503	missense	probably benign	0.07
R7695:Neo1	UTSW	9	58902929	missense	possibly damaging	0.81
R7753:Neo1	UTSW	9	58956005	missense	probably benign	0.00
R7807:Neo1	UTSW	9	58990494	missense	probably benign	0.01
R7915:Neo1	UTSW	9	58930981	missense	probably benign	0.42
R7973:Neo1	UTSW	9	58990193	missense	probably damaging	1.00
R8356:Neo1	UTSW	9	58878119	missense	probably damaging	1.00
R8505:Neo1	UTSW	9	58913283	missense	probably benign	0.02
R8700:Neo1	UTSW	9	58918630	missense	probably benign	0.28
R8798:Neo1	UTSW	9	58913166	missense	probably damaging	1.00
R8952:Neo1	UTSW	9	58990262	missense	probably benign	0.01
R9779:Neo1	UTSW	9	58978726	nonsense	probably null
R9784:Neo1	UTSW	9	58982220	missense	probably benign
R9789:Neo1	UTSW	9	58894024	critical splice acceptor site	probably null
X0063:Neo1	UTSW	9	58990298	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATACACAGGCTGTCCCTTTAC -3'
(R):5'- GCCTGGTAACACTCAGTTTCAC -3'

Sequencing Primer
(F):5'- ACAGGCTGTCCCTTTACTTGCTATG -3'
(R):5'- GTGAAACTATCCAGAGCTCTGCTG -3'

Posted On

2019-11-12