Mutagenetix > Incidental Mutation

Incidental Mutation 'R1772:Ntm'

196706

Institutional Source

Beutler Lab

Gene Symbol

Ntm

Ensembl Gene

ENSMUSG00000059974

Gene Name

neurotrimin

Synonyms

B230210G24Rik, Hnt, 6230410L23Rik

MMRRC Submission

039803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28906046-29874437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29090396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 108 (Y108H)

Ref Sequence

ENSEMBL: ENSMUSP00000074578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075069] [ENSMUST00000115236] [ENSMUST00000115237]

AlphaFold

Q99PJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000075069
AA Change: Y108H

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000074578
Gene: ENSMUSG00000059974
AA Change: Y108H

Domain	Start	End	E-Value	Type
IG	42	133	2.08e-10	SMART
IGc2	148	208	1.31e-16	SMART
IGc2	234	302	2.3e-12	SMART
low complexity region	332	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115236
AA Change: Y108H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000110891
Gene: ENSMUSG00000059974
AA Change: Y108H

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	42	133	2.08e-10	SMART
IGc2	148	208	1.31e-16	SMART
IGc2	234	302	2.3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115237
AA Change: Y108H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110892
Gene: ENSMUSG00000059974
AA Change: Y108H

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	42	133	2.08e-10	SMART
IGc2	148	208	1.31e-16	SMART
IGc2	234	302	2.3e-12	SMART
low complexity region	332	342	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152513

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.5%

Validation Efficiency

97% (107/110)

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 IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,258,465 (GRCm39)		probably benign	Het
Aldh1a7	T	C	19: 20,693,383 (GRCm39)	K179E	probably damaging	Het
Angptl7	G	A	4: 148,581,883 (GRCm39)	R168C	probably damaging	Het
Atp8b1	T	A	18: 64,706,563 (GRCm39)	I208F	possibly damaging	Het
Bco1	A	G	8: 117,857,347 (GRCm39)	Y438C	probably benign	Het
Bltp1	T	C	3: 37,013,581 (GRCm39)	S1937P	probably damaging	Het
Btrc	A	C	19: 45,501,100 (GRCm39)	K218Q	probably damaging	Het
Cct8l1	G	A	5: 25,722,697 (GRCm39)	V471M	probably damaging	Het
Cd180	C	T	13: 102,842,750 (GRCm39)	L599F	probably benign	Het
Cd300e	T	C	11: 114,945,344 (GRCm39)	N150S	probably benign	Het
Clcn1	C	A	6: 42,271,079 (GRCm39)	T281K	probably damaging	Het
Cnnm3	T	C	1: 36,558,038 (GRCm39)	S417P	probably damaging	Het
Cspg4	T	A	9: 56,804,776 (GRCm39)	S1862R	probably benign	Het
Cspg5	A	T	9: 110,091,206 (GRCm39)	N432Y	probably damaging	Het
Cyp2r1	T	A	7: 114,152,451 (GRCm39)	I169F	probably damaging	Het
D130043K22Rik	T	A	13: 25,059,982 (GRCm39)	S618T	probably damaging	Het
Diaph3	G	A	14: 87,202,985 (GRCm39)	P635L	probably damaging	Het
Dlg1	A	G	16: 31,484,485 (GRCm39)	I38V	possibly damaging	Het
Dlk1	T	G	12: 109,425,685 (GRCm39)	V186G	probably damaging	Het
Dmxl2	T	C	9: 54,330,508 (GRCm39)		probably benign	Het
Dnajc17	G	A	2: 119,014,164 (GRCm39)	R132*	probably null	Het
Dock9	G	T	14: 121,847,210 (GRCm39)	N1042K	probably benign	Het
Dok7	A	T	5: 35,243,994 (GRCm39)	Q511L	probably damaging	Het
Espnl	G	A	1: 91,272,325 (GRCm39)	E562K	possibly damaging	Het
Evi5	G	A	5: 107,943,707 (GRCm39)	T562I	probably benign	Het
Exd2	T	A	12: 80,536,253 (GRCm39)	D294E	probably benign	Het
Fbn1	A	T	2: 125,245,148 (GRCm39)	D246E	possibly damaging	Het
Fbxw16	A	T	9: 109,268,650 (GRCm39)	W247R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,004 (GRCm39)	I64T	probably benign	Het
Fcgbp	C	A	7: 27,804,600 (GRCm39)	Q1903K	possibly damaging	Het
Fmn1	A	G	2: 113,195,700 (GRCm39)	S467G	unknown	Het
Fndc7	T	A	3: 108,777,850 (GRCm39)	T369S	probably damaging	Het
Fnta	T	C	8: 26,490,994 (GRCm39)		probably benign	Het
Gak	A	T	5: 108,754,758 (GRCm39)	H289Q	probably damaging	Het
Gas2l3	A	G	10: 89,252,876 (GRCm39)		probably benign	Het
Gbp8	T	C	5: 105,163,987 (GRCm39)	N437S	probably benign	Het
Gk5	G	A	9: 96,032,850 (GRCm39)		probably null	Het
Hid1	A	T	11: 115,239,299 (GRCm39)	V788E	probably damaging	Het
Hmcn1	T	C	1: 150,439,319 (GRCm39)	T5505A	probably damaging	Het
Igf1r	T	A	7: 67,844,822 (GRCm39)	M865K	probably benign	Het
Katnal2	G	A	18: 77,090,233 (GRCm39)	T258I	probably damaging	Het
Kdm3b	A	T	18: 34,936,557 (GRCm39)	I280L	probably benign	Het
Kif24	A	G	4: 41,409,787 (GRCm39)	V382A	probably damaging	Het
Kif2a	A	T	13: 107,114,640 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,333,022 (GRCm39)	I56V	probably benign	Het
Klk6	C	T	7: 43,478,695 (GRCm39)	Q201*	probably null	Het
Klra3	A	T	6: 130,300,671 (GRCm39)	S233T	probably benign	Het
Krt9	A	T	11: 100,082,131 (GRCm39)	M223K	probably damaging	Het
Lama4	G	A	10: 38,936,220 (GRCm39)	E632K	probably benign	Het
Lamb1	T	C	12: 31,328,524 (GRCm39)	Y163H	probably damaging	Het
Lipo3	A	G	19: 33,764,821 (GRCm39)	I11T	probably benign	Het
Lix1l	T	A	3: 96,531,207 (GRCm39)	H333Q	possibly damaging	Het
Mal2	T	A	15: 54,451,783 (GRCm39)	M68K	probably damaging	Het
Map2k2	T	C	10: 80,956,934 (GRCm39)	I104T	probably damaging	Het
Matn2	T	C	15: 34,428,931 (GRCm39)	V765A	probably damaging	Het
Mptx2	T	A	1: 173,102,040 (GRCm39)	K216N	probably damaging	Het
Mup5	C	T	4: 61,750,578 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,419,855 (GRCm39)	Y2494H	probably damaging	Het
Myh3	G	A	11: 66,990,220 (GRCm39)	D1622N	probably benign	Het
Myo6	T	C	9: 80,177,331 (GRCm39)	I609T	possibly damaging	Het
Ndst1	G	A	18: 60,835,909 (GRCm39)	T458I	probably damaging	Het
Neb	A	T	2: 52,125,689 (GRCm39)	Y3622N	probably damaging	Het
Or13c3	T	G	4: 52,855,730 (GRCm39)	K261T	probably benign	Het
Or1a1b	T	C	11: 74,097,398 (GRCm39)	I215V	probably benign	Het
Or52e19	T	C	7: 102,959,449 (GRCm39)	Y174H	possibly damaging	Het
Pappa2	T	A	1: 158,641,938 (GRCm39)	I1373F	possibly damaging	Het
Pear1	A	G	3: 87,661,799 (GRCm39)		probably benign	Het
Phc3	C	T	3: 31,015,969 (GRCm39)	A81T	probably damaging	Het
Pmepa1	A	G	2: 173,076,153 (GRCm39)	S105P	probably damaging	Het
Ppp6r1	T	C	7: 4,645,030 (GRCm39)	I248V	probably benign	Het
Prdm4	G	A	10: 85,729,256 (GRCm39)	T717I	probably damaging	Het
Prom1	T	C	5: 44,168,566 (GRCm39)	T669A	probably benign	Het
Ptpn5	T	A	7: 46,740,516 (GRCm39)	I96F	probably benign	Het
Ptpro	T	C	6: 137,407,741 (GRCm39)	L922P	probably damaging	Het
Reck	A	T	4: 43,890,982 (GRCm39)	H40L	probably benign	Het
Rreb1	T	A	13: 38,114,899 (GRCm39)	C753S	probably benign	Het
Sacs	T	C	14: 61,448,346 (GRCm39)	L3464P	probably damaging	Het
Samsn1	A	T	16: 75,667,663 (GRCm39)	D304E	probably benign	Het
Scgb2b3	T	C	7: 31,059,621 (GRCm39)	N51S	possibly damaging	Het
Shroom3	T	C	5: 93,088,515 (GRCm39)	S341P	probably damaging	Het
Siglece	T	C	7: 43,308,717 (GRCm39)	D212G	probably damaging	Het
Sirpa	A	G	2: 129,458,376 (GRCm39)	T331A	probably damaging	Het
Spata21	T	C	4: 140,838,607 (GRCm39)	S553P	possibly damaging	Het
Speer4b	T	A	5: 27,705,236 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,247,376 (GRCm39)	D552G	probably damaging	Het
Stab2	A	G	10: 86,790,098 (GRCm39)	I556T	probably benign	Het
Strip1	C	T	3: 107,534,047 (GRCm39)		probably null	Het
Stxbp6	T	A	12: 44,949,653 (GRCm39)	D92V	probably damaging	Het
Styx	A	G	14: 45,594,215 (GRCm39)	K46E	probably damaging	Het
Supt20	T	A	3: 54,617,841 (GRCm39)	V314E	probably damaging	Het
Syne2	T	A	12: 75,985,503 (GRCm39)	D1650E	probably benign	Het
Szt2	T	A	4: 118,262,714 (GRCm39)	K21M	probably damaging	Het
Tbx4	A	T	11: 85,802,033 (GRCm39)	H222L	probably damaging	Het
Tcstv1b	T	A	13: 120,634,725 (GRCm39)	D2E	probably benign	Het
Tmx3	A	T	18: 90,551,121 (GRCm39)	I254L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpv2	A	T	11: 62,485,052 (GRCm39)		probably benign	Het
Ubap2	A	G	4: 41,202,380 (GRCm39)	S683P	probably benign	Het
Ube2d3	C	T	3: 135,170,972 (GRCm39)	R139W	probably benign	Het
Ubox5	G	T	2: 130,433,794 (GRCm39)	Q518K	probably benign	Het
Usp42	T	C	5: 143,702,857 (GRCm39)	N588S	probably damaging	Het
Vars2	G	A	17: 35,970,976 (GRCm39)	T618M	probably damaging	Het
Wfdc17	A	T	11: 83,595,730 (GRCm39)	N65Y	probably damaging	Het
Zbtb38	G	A	9: 96,570,094 (GRCm39)	P330L	probably damaging	Het
Zfp385a	C	T	15: 103,224,308 (GRCm39)		probably null	Het
Zfp637	T	A	6: 117,822,373 (GRCm39)	L167H	probably damaging	Het

Other mutations in Ntm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Ntm	APN	9	28,925,480 (GRCm39)	missense	probably damaging	1.00
IGL01790:Ntm	APN	9	29,322,886 (GRCm39)	missense	probably benign	0.05
IGL03236:Ntm	APN	9	29,020,802 (GRCm39)	missense	probably benign	0.04
Frowsy	UTSW	9	28,923,516 (GRCm39)	nonsense	probably null
R0423:Ntm	UTSW	9	29,090,395 (GRCm39)	missense	probably damaging	0.99
R1905:Ntm	UTSW	9	29,090,393 (GRCm39)	missense	probably damaging	1.00
R2295:Ntm	UTSW	9	29,020,817 (GRCm39)	missense	possibly damaging	0.89
R4342:Ntm	UTSW	9	29,020,727 (GRCm39)	missense	probably damaging	0.98
R4433:Ntm	UTSW	9	28,923,516 (GRCm39)	nonsense	probably null
R4696:Ntm	UTSW	9	29,090,501 (GRCm39)	missense	possibly damaging	0.46
R5572:Ntm	UTSW	9	28,925,512 (GRCm39)	missense	probably damaging	1.00
R6031:Ntm	UTSW	9	28,920,671 (GRCm39)	missense	probably damaging	1.00
R6031:Ntm	UTSW	9	28,920,671 (GRCm39)	missense	probably damaging	1.00
R6431:Ntm	UTSW	9	29,322,978 (GRCm39)	missense	probably damaging	1.00
R7250:Ntm	UTSW	9	29,322,988 (GRCm39)	missense	probably benign	0.06
R8283:Ntm	UTSW	9	28,923,508 (GRCm39)	missense	probably damaging	0.96
R9477:Ntm	UTSW	9	29,322,922 (GRCm39)	missense	probably benign	0.03
R9713:Ntm	UTSW	9	29,090,327 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CGTGTCTAGCTTCAAGATGACCACC -3'
(R):5'- CGGCAAATGCATGTCTGTCCAATAG -3'

Sequencing Primer
(F):5'- CACCAGAGAGGACTTGCTG -3'
(R):5'- TGGCACGAACAACTTTTGC -3'

Posted On

2014-05-23