Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Neo1'

269000

Institutional Source

Beutler Lab

Gene Symbol

Neo1

Ensembl Gene

ENSMUSG00000032340

Gene Name

neogenin

Synonyms

2610028H22Rik, D930014N22Rik, Igdcc2

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58874687-59036441 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58893878 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 1140 (K1140M)

Ref Sequence

ENSEMBL: ENSMUSP00000150600 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068664
AA Change: K1167M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063656
Gene: ENSMUSG00000032340
AA Change: K1167M

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: K1140M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215165

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	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
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
R7665:Neo1	UTSW	9	58925795	missense	probably damaging	1.00
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
X0063:Neo1	UTSW	9	58990298	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAGCTCCATTAGAATCTTATGGG -3'
(R):5'- CCTTGAAAAGGTTTGATGGAGC -3'

Sequencing Primer
(F):5'- GCTCCATTAGAATCTTATGGGACTTG -3'
(R):5'- CTGCTGGTCATCATTGTC -3'

Posted On

2015-02-19