Incidental Mutation 'R0423:Ntm'
ID 38589
Institutional Source Beutler Lab
Gene Symbol Ntm
Ensembl Gene ENSMUSG00000059974
Gene Name neurotrimin
Synonyms B230210G24Rik, Hnt, 6230410L23Rik
MMRRC Submission 038625-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R0423 (G1)
Quality Score 163
Status Validated
Chromosome 9
Chromosomal Location 28906046-29874437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29090395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 108 (Y108C)
Ref Sequence ENSEMBL: ENSMUSP00000110892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075069] [ENSMUST00000115236] [ENSMUST00000115237]
AlphaFold Q99PJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000075069
AA Change: Y108C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074578
Gene: ENSMUSG00000059974
AA Change: Y108C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000115236
AA Change: Y108C

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110891
Gene: ENSMUSG00000059974
AA Change: Y108C

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000115237
AA Change: Y108C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110892
Gene: ENSMUSG00000059974
AA Change: Y108C

DomainStartEndE-ValueType
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 0.1248 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.9%
Validation Efficiency 99% (84/85)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,261,825 (GRCm39) noncoding transcript Het
A630001G21Rik A G 1: 85,654,187 (GRCm39) I50T probably benign Het
Abhd12 T C 2: 150,680,312 (GRCm39) T264A possibly damaging Het
Acsm3 T C 7: 119,376,382 (GRCm39) Y370H probably damaging Het
Ank2 G T 3: 126,723,509 (GRCm39) Y3789* probably null Het
Anxa4 C T 6: 86,737,719 (GRCm39) A1T probably damaging Het
Apba1 T A 19: 23,922,362 (GRCm39) V810D probably damaging Het
Bank1 A G 3: 135,989,778 (GRCm39) I104T possibly damaging Het
Birc6 T C 17: 75,003,292 (GRCm39) Y4721H probably damaging Het
Bmpr2 A G 1: 59,907,669 (GRCm39) T921A probably benign Het
Ccdc102a A C 8: 95,632,554 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,869,794 (GRCm39) D904Y probably damaging Het
Ccdc96 A G 5: 36,642,591 (GRCm39) K199R probably benign Het
Cdh10 G A 15: 18,986,965 (GRCm39) V399I probably benign Het
Cenpk A G 13: 104,370,733 (GRCm39) T85A probably benign Het
Col6a2 A C 10: 76,450,751 (GRCm39) V60G possibly damaging Het
Cops7b A G 1: 86,526,753 (GRCm39) D119G probably benign Het
Cstf2t A G 19: 31,061,676 (GRCm39) E404G possibly damaging Het
Ctnna2 A T 6: 77,630,052 (GRCm39) V134E probably damaging Het
Cwh43 A C 5: 73,574,085 (GRCm39) M250L probably benign Het
Daam2 T A 17: 49,776,449 (GRCm39) K813* probably null Het
Dhcr24 G A 4: 106,443,733 (GRCm39) probably benign Het
Dnah8 G T 17: 30,920,955 (GRCm39) R1182L probably benign Het
Doc2a C T 7: 126,447,830 (GRCm39) P25S probably damaging Het
Dst A G 1: 34,317,116 (GRCm39) S6823G possibly damaging Het
Espl1 T A 15: 102,212,421 (GRCm39) L509* probably null Het
Fbxw19 C T 9: 109,315,134 (GRCm39) V143I probably benign Het
Fbxw5 A G 2: 25,394,538 (GRCm39) T171A possibly damaging Het
Gfra2 C T 14: 71,133,521 (GRCm39) T117M probably damaging Het
Gm454 T A 5: 138,202,403 (GRCm39) noncoding transcript Het
Ilrun A C 17: 28,005,207 (GRCm39) Y117D probably damaging Het
Kcnq4 A G 4: 120,574,705 (GRCm39) S120P probably damaging Het
Krt84 A T 15: 101,437,155 (GRCm39) L336Q probably damaging Het
Lilra6 T A 7: 3,917,774 (GRCm39) probably benign Het
Mbnl2 G A 14: 120,562,736 (GRCm39) R29H probably damaging Het
Mcm3ap G A 10: 76,338,539 (GRCm39) G1389D probably benign Het
Mettl13 A T 1: 162,371,954 (GRCm39) I305N probably damaging Het
Muc6 A G 7: 141,238,548 (GRCm39) S30P probably benign Het
Myh7 T A 14: 55,216,646 (GRCm39) Q1237L probably benign Het
Myo9a T G 9: 59,802,619 (GRCm39) D2035E probably damaging Het
Nat10 A G 2: 103,578,572 (GRCm39) S211P probably damaging Het
Or14c39 T C 7: 86,344,434 (GRCm39) Y257H possibly damaging Het
Or7g25 A T 9: 19,160,248 (GRCm39) L149* probably null Het
Pcdhb16 A G 18: 37,613,422 (GRCm39) D794G probably benign Het
Phlpp1 A G 1: 106,267,345 (GRCm39) T753A probably benign Het
Pierce1 T C 2: 28,356,036 (GRCm39) probably benign Het
Pnldc1 T C 17: 13,108,963 (GRCm39) Q511R possibly damaging Het
Ppip5k2 A G 1: 97,689,152 (GRCm39) S38P possibly damaging Het
Pygb A G 2: 150,665,904 (GRCm39) K593E probably benign Het
Rangap1 A T 15: 81,589,664 (GRCm39) F564I probably damaging Het
Rictor A T 15: 6,803,381 (GRCm39) I498F possibly damaging Het
Rnase12 A T 14: 51,294,613 (GRCm39) V22D probably benign Het
Rpl7l1 T A 17: 47,091,324 (GRCm39) M93L probably benign Het
Smg1 T C 7: 117,776,103 (GRCm39) R1396G possibly damaging Het
Snx19 C A 9: 30,347,133 (GRCm39) T692N probably damaging Het
Spag6 A G 2: 18,715,404 (GRCm39) D61G probably benign Het
Spen T A 4: 141,206,647 (GRCm39) N660I unknown Het
Sptan1 T G 2: 29,918,684 (GRCm39) C2246G probably null Het
Svopl A G 6: 38,013,642 (GRCm39) probably benign Het
Taf2 A T 15: 54,928,078 (GRCm39) N108K probably benign Het
Thbs4 T C 13: 92,893,079 (GRCm39) D703G probably damaging Het
Tle6 G T 10: 81,434,457 (GRCm39) N47K possibly damaging Het
Usp48 G T 4: 137,343,722 (GRCm39) V452L probably benign Het
Ust A T 10: 8,173,912 (GRCm39) S198T probably damaging Het
Wnk2 T A 13: 49,248,894 (GRCm39) M386L possibly damaging Het
Ywhaq T C 12: 21,441,382 (GRCm39) probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp316 A G 5: 143,238,993 (GRCm39) S1009P probably damaging Het
Zfp963 A G 8: 70,197,156 (GRCm39) Y29H probably damaging Het
Zmym4 A G 4: 126,776,112 (GRCm39) probably benign Het
Zranb3 A G 1: 128,019,607 (GRCm39) I45T probably damaging Het
Other mutations in Ntm
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1772:Ntm UTSW 9 29,090,396 (GRCm39) missense probably benign 0.02
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 2013-05-23