Incidental Mutation 'R5572:Ntm'
ID 478293
Institutional Source Beutler Lab
Gene Symbol Ntm
Ensembl Gene ENSMUSG00000059974
Gene Name neurotrimin
Synonyms B230210G24Rik, Hnt, 6230410L23Rik
MMRRC Submission 043266-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R5572 (G1)
Quality Score 77
Status Validated
Chromosome 9
Chromosomal Location 28906046-29874437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28925512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 191 (I191T)
Ref Sequence ENSEMBL: ENSMUSP00000110891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075069] [ENSMUST00000115236] [ENSMUST00000115237] [ENSMUST00000140118] [ENSMUST00000155308]
AlphaFold Q99PJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000075069
AA Change: I191T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074578
Gene: ENSMUSG00000059974
AA Change: I191T

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: I191T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110891
Gene: ENSMUSG00000059974
AA Change: I191T

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: I191T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110892
Gene: ENSMUSG00000059974
AA Change: I191T

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 probably damaging
Transcript: ENSMUST00000140118
AA Change: I15T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114810
Gene: ENSMUSG00000059974
AA Change: I15T

DomainStartEndE-ValueType
Pfam:Ig_2 3 43 5.2e-3 PFAM
IGc2 58 126 2.3e-12 SMART
low complexity region 167 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148606
Predicted Effect probably damaging
Transcript: ENSMUST00000155308
AA Change: I15T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119030
Gene: ENSMUSG00000059974
AA Change: I15T

DomainStartEndE-ValueType
Pfam:Ig_2 3 43 5.8e-3 PFAM
IGc2 58 126 2.3e-12 SMART
low complexity region 179 189 N/A INTRINSIC
Meta Mutation Damage Score 0.6865 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,765,108 (GRCm39) probably null Het
Abcd4 T C 12: 84,653,050 (GRCm39) D380G probably benign Het
Actr3b T A 5: 26,014,886 (GRCm39) D68E probably benign Het
Apol10a T C 15: 77,372,834 (GRCm39) S157P probably damaging Het
Arap3 A T 18: 38,124,119 (GRCm39) I327N probably damaging Het
Arnt G T 3: 95,382,015 (GRCm39) V198L possibly damaging Het
Baiap3 T A 17: 25,470,449 (GRCm39) D86V possibly damaging Het
Bcl9l G T 9: 44,412,095 (GRCm39) R27L possibly damaging Het
Bltp2 A T 11: 78,155,393 (GRCm39) D167V probably damaging Het
C1qc T C 4: 136,619,773 (GRCm39) Y34C probably benign Het
C1rb T C 6: 124,557,758 (GRCm39) S632P probably benign Het
C3 A G 17: 57,531,673 (GRCm39) S284P probably damaging Het
Cfap44 T G 16: 44,301,668 (GRCm39) V1802G possibly damaging Het
Cfhr1 A G 1: 139,484,165 (GRCm39) V117A possibly damaging Het
Clca3b T C 3: 144,533,070 (GRCm39) D654G probably damaging Het
Col17a1 A T 19: 47,639,168 (GRCm39) S1126T probably benign Het
Cts3 T A 13: 61,712,782 (GRCm39) I313F probably damaging Het
Egfl7 T C 2: 26,481,703 (GRCm39) V6A possibly damaging Het
Eif2s3y G A Y: 1,016,631 (GRCm39) D272N probably damaging Het
Foxp4 A G 17: 48,191,804 (GRCm39) V111A unknown Het
Hmcn2 A T 2: 31,304,537 (GRCm39) probably null Het
Hmcn2 G A 2: 31,304,538 (GRCm39) probably null Het
Igsf11 C T 16: 38,845,294 (GRCm39) R283C probably damaging Het
Il1a A G 2: 129,149,838 (GRCm39) Y21H possibly damaging Het
Il6ra A T 3: 89,778,589 (GRCm39) V420D probably damaging Het
Kdm5a T C 6: 120,389,336 (GRCm39) V921A possibly damaging Het
Kirrel3 G A 9: 34,912,244 (GRCm39) A196T probably damaging Het
Klra1 T A 6: 130,349,802 (GRCm39) D212V possibly damaging Het
N4bp2l2 G A 5: 150,585,755 (GRCm39) T75I probably benign Het
Niban1 T C 1: 151,584,941 (GRCm39) S513P probably benign Het
Nnmt A G 9: 48,503,447 (GRCm39) L193P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or2ak5 A G 11: 58,611,055 (GRCm39) V273A probably benign Het
Or52d13 A C 7: 103,109,905 (GRCm39) L170R probably benign Het
Or52h7 A T 7: 104,214,201 (GRCm39) T258S probably benign Het
Pam A C 1: 97,782,469 (GRCm39) probably benign Het
Pomk T A 8: 26,473,218 (GRCm39) H245L possibly damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rasip1 G T 7: 45,286,153 (GRCm39) R792L probably benign Het
Ret T C 6: 118,132,392 (GRCm39) Y1016C probably damaging Het
Rhbdd1 A T 1: 82,318,531 (GRCm39) N138I possibly damaging Het
Snx13 T G 12: 35,153,119 (GRCm39) V383G probably damaging Het
Syt3 A G 7: 44,040,142 (GRCm39) H125R probably benign Het
Tlr6 A T 5: 65,112,361 (GRCm39) L182Q probably damaging Het
Tlr9 T C 9: 106,102,836 (GRCm39) V709A possibly damaging Het
Tmprss6 T C 15: 78,326,622 (GRCm39) Y655C probably damaging Het
Ttn A T 2: 76,683,972 (GRCm39) probably benign Het
Ube3a T C 7: 58,938,525 (GRCm39) I761T probably damaging Het
Ube3b G A 5: 114,544,240 (GRCm39) D546N probably damaging Het
Ugt2b36 A G 5: 87,237,341 (GRCm39) V188A possibly damaging Het
Usp29 A G 7: 6,965,191 (GRCm39) I345V probably benign Het
Vmn2r78 A G 7: 86,564,720 (GRCm39) K55R probably benign Het
Wdsub1 A G 2: 59,693,051 (GRCm39) F288L possibly damaging Het
Zan C T 5: 137,392,693 (GRCm39) V4601M unknown Het
Zbtb8b T C 4: 129,322,334 (GRCm39) K376E probably damaging Het
Zfp619 A T 7: 39,184,663 (GRCm39) Y231F probably benign 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
R0423:Ntm UTSW 9 29,090,395 (GRCm39) missense probably damaging 0.99
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
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'- ACAGATGACTTTGGACTCCCG -3'
(R):5'- GAGTTCCTAAAATGTTGAGCTGAC -3'

Sequencing Primer
(F):5'- CCGGACTCTTTAGTTCTTGAAAGCAG -3'
(R):5'- GCTGACAAACTGACATTTCTCAGGG -3'
Posted On 2017-06-14