Incidental Mutation 'R0699:Ntng1'
ID 62942
Institutional Source Beutler Lab
Gene Symbol Ntng1
Ensembl Gene ENSMUSG00000059857
Gene Name netrin G1
Synonyms Lmnt1, A930010C08Rik
MMRRC Submission 038883-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0699 (G1)
Quality Score 154
Status Validated
Chromosome 3
Chromosomal Location 109687356-110051327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 109779611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 322 (T322K)
Ref Sequence ENSEMBL: ENSMUSP00000102180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072596] [ENSMUST00000106570] [ENSMUST00000106571] [ENSMUST00000106575] [ENSMUST00000128219] [ENSMUST00000131027] [ENSMUST00000138344] [ENSMUST00000138953] [ENSMUST00000133268] [ENSMUST00000156177]
AlphaFold Q8R4G0
Predicted Effect probably damaging
Transcript: ENSMUST00000072596
AA Change: T322K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072397
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 354 6.86e-4 SMART
EGF_Lam 364 417 4.81e-8 SMART
EGF_Lam 420 462 5.74e-6 SMART
EGF 466 498 5.12e-3 SMART
low complexity region 522 537 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106570
AA Change: T322K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102180
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 355 1.28e-3 SMART
EGF 388 420 5.12e-3 SMART
low complexity region 444 459 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106571
AA Change: T322K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102181
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 354 6.86e-4 SMART
EGF 408 440 5.12e-3 SMART
low complexity region 464 479 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106575
AA Change: T322K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102185
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 355 3.33e-2 SMART
EGF_Lam 364 417 4.81e-8 SMART
EGF_Lam 420 462 5.74e-6 SMART
EGF 466 498 5.12e-3 SMART
low complexity region 522 537 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128219
SMART Domains Protein: ENSMUSP00000116579
Gene: ENSMUSG00000059857

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LamNT 59 295 1.5e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131027
AA Change: T322K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118800
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 354 6.86e-4 SMART
EGF_Lam 364 417 4.81e-8 SMART
EGF 421 453 5.12e-3 SMART
low complexity region 477 492 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138344
AA Change: T322K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120688
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 354 6.86e-4 SMART
EGF_Lam 364 406 5.74e-6 SMART
EGF 410 442 5.12e-3 SMART
low complexity region 466 481 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138953
AA Change: T322K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116213
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 354 6.86e-4 SMART
EGF 407 439 5.12e-3 SMART
low complexity region 463 478 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133268
AA Change: T322K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117371
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 354 6.86e-4 SMART
EGF 365 397 5.12e-3 SMART
low complexity region 421 436 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000156177
AA Change: T322K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119534
Gene: ENSMUSG00000059857
AA Change: T322K

DomainStartEndE-ValueType
LamNT 59 295 3.22e-18 SMART
EGF_Lam 297 354 6.86e-4 SMART
EGF 387 419 5.12e-3 SMART
low complexity region 443 458 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189335
Meta Mutation Damage Score 0.0941 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (120/123)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele survive into adulthood with no major alterations in gross brain cytoarchitecture or axonal projection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,538,508 (GRCm39) probably benign Het
Abcb6 C T 1: 75,148,553 (GRCm39) E89K probably damaging Het
Adam25 C A 8: 41,209,011 (GRCm39) T759K probably benign Het
Adgrf5 G A 17: 43,733,552 (GRCm39) probably null Het
Aimp1 A T 3: 132,380,626 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,153,148 (GRCm39) V193I probably benign Het
Ank2 C T 3: 126,723,478 (GRCm39) V950I probably benign Het
Aspn A G 13: 49,705,258 (GRCm39) D40G possibly damaging Het
C1rl A G 6: 124,485,595 (GRCm39) D322G probably benign Het
Car5a T C 8: 122,671,555 (GRCm39) probably benign Het
Cfap107 G T 4: 144,146,322 (GRCm39) N110K probably damaging Het
Cfap157 T A 2: 32,669,022 (GRCm39) K360N probably damaging Het
Cilp T A 9: 65,177,608 (GRCm39) F117Y probably damaging Het
Cntnap5c T G 17: 58,349,493 (GRCm39) W269G probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Commd3 A G 2: 18,679,786 (GRCm39) E165G possibly damaging Het
Cops3 A C 11: 59,717,148 (GRCm39) Y244D probably damaging Het
Cpne5 T A 17: 29,428,667 (GRCm39) K108N probably damaging Het
Cracdl T C 1: 37,651,411 (GRCm39) D1152G possibly damaging Het
Ddx41 A G 13: 55,679,112 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,301,113 (GRCm39) Y157H probably damaging Het
Dpp8 A T 9: 64,962,176 (GRCm39) L405F probably benign Het
Dync2h1 G T 9: 7,103,680 (GRCm39) A365E probably benign Het
Dysf C T 6: 84,167,828 (GRCm39) R1757W probably benign Het
Eif1ad T A 19: 5,418,726 (GRCm39) V93D possibly damaging Het
Eif2ak3 T C 6: 70,869,514 (GRCm39) F734L probably benign Het
F8 T C X: 74,423,230 (GRCm39) probably benign Het
Fbxl14 T C 6: 119,457,715 (GRCm39) Y299H probably benign Het
Fmo1 T C 1: 162,661,341 (GRCm39) N314S probably benign Het
Fnip2 T C 3: 79,388,446 (GRCm39) T762A probably benign Het
Gfra1 A C 19: 58,258,555 (GRCm39) S271A probably benign Het
Gm9932 T C 5: 100,346,931 (GRCm39) V43A probably damaging Het
Herc6 T C 6: 57,558,092 (GRCm39) L24P probably damaging Het
Hmcn1 T C 1: 150,695,161 (GRCm39) T248A probably damaging Het
Hook1 T A 4: 95,884,077 (GRCm39) probably benign Het
Ifne T C 4: 88,798,014 (GRCm39) S135G probably benign Het
Igkv13-84 G A 6: 68,916,635 (GRCm39) probably benign Het
Itm2b T A 14: 73,602,065 (GRCm39) N211I probably damaging Het
Kcnh5 A T 12: 75,023,305 (GRCm39) C588S possibly damaging Het
Kif13a A T 13: 46,952,689 (GRCm39) W699R possibly damaging Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Macrod2 T C 2: 140,260,836 (GRCm39) probably null Het
Map3k6 A G 4: 132,975,437 (GRCm39) E724G probably damaging Het
Mgam T C 6: 40,619,953 (GRCm39) L14P possibly damaging Het
Morc1 T A 16: 48,412,977 (GRCm39) M706K probably benign Het
Muc2 T C 7: 141,306,037 (GRCm39) V242A probably damaging Het
Mx2 T A 16: 97,345,753 (GRCm39) V57E probably damaging Het
Myh14 C A 7: 44,274,395 (GRCm39) A1339S possibly damaging Het
Myom1 G T 17: 71,374,308 (GRCm39) S595I probably damaging Het
Nav1 T A 1: 135,380,687 (GRCm39) M1471L probably benign Het
Ncapd2 A C 6: 125,146,843 (GRCm39) S1248A probably benign Het
Ncbp1 T C 4: 46,147,528 (GRCm39) V125A probably benign Het
Ncor2 A T 5: 125,106,176 (GRCm39) probably benign Het
Nobox T A 6: 43,284,144 (GRCm39) Q134L probably benign Het
Npc1 T C 18: 12,343,632 (GRCm39) T454A probably benign Het
Olfm5 T C 7: 103,803,326 (GRCm39) E379G probably damaging Het
Oma1 T C 4: 103,210,792 (GRCm39) S433P probably damaging Het
Or1ad6 T C 11: 50,860,645 (GRCm39) S267P probably damaging Het
Or1b1 T C 2: 36,995,074 (GRCm39) D196G possibly damaging Het
Or4c105 A T 2: 88,647,568 (GRCm39) N18Y probably damaging Het
Or4c107 C T 2: 88,788,960 (GRCm39) T50I probably benign Het
Or4c113 C T 2: 88,885,636 (GRCm39) V45M possibly damaging Het
Parp14 G A 16: 35,680,955 (GRCm39) T226M probably damaging Het
Parp8 A T 13: 117,059,120 (GRCm39) H168Q probably benign Het
Pik3cg G A 12: 32,247,341 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,442,000 (GRCm39) F388S probably damaging Het
Plaat3 T A 19: 7,535,366 (GRCm39) probably null Het
Pllp T C 8: 95,422,660 (GRCm39) probably null Het
Ppfibp1 T A 6: 146,927,720 (GRCm39) V778E probably damaging Het
Prkci T C 3: 31,104,422 (GRCm39) V595A possibly damaging Het
Prune2 T A 19: 17,101,319 (GRCm39) D2274E probably damaging Het
Rad51ap2 A T 12: 11,507,601 (GRCm39) T508S probably benign Het
Ranbp3l T C 15: 9,058,850 (GRCm39) probably null Het
Rfc1 A C 5: 65,476,742 (GRCm39) probably null Het
Rin3 G A 12: 102,335,834 (GRCm39) V502I probably damaging Het
Rtn4rl1 A T 11: 75,156,048 (GRCm39) H160L possibly damaging Het
Rtn4rl1 A T 11: 75,156,050 (GRCm39) I161F probably benign Het
Serpinb9b A T 13: 33,217,549 (GRCm39) M116L probably benign Het
Sgo2a C T 1: 58,037,308 (GRCm39) R18* probably null Het
Sh3gl2 T A 4: 85,265,408 (GRCm39) D31E probably benign Het
Slc38a9 T C 13: 112,859,823 (GRCm39) L419S probably damaging Het
Sp8 AGCGGCGGCGGCGGCGG AGCGGCGGCGGCGG 12: 118,812,555 (GRCm39) probably benign Het
Spen G T 4: 141,201,702 (GRCm39) N2308K possibly damaging Het
Stac2 A G 11: 97,933,611 (GRCm39) I156T possibly damaging Het
Stambp A G 6: 83,533,303 (GRCm39) F320S probably damaging Het
Tas2r117 A T 6: 132,780,161 (GRCm39) N100Y probably damaging Het
Tigd3 A T 19: 5,941,974 (GRCm39) S385R probably benign Het
Tmem30c T C 16: 57,097,152 (GRCm39) D136G possibly damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnrc6c A G 11: 117,613,447 (GRCm39) Q535R probably benign Het
Trmt2a T C 16: 18,067,393 (GRCm39) V22A probably benign Het
Tut7 G A 13: 59,929,828 (GRCm39) probably benign Het
Wipf3 A C 6: 54,460,817 (GRCm39) K88N probably damaging Het
Zfp974 T C 7: 27,611,416 (GRCm39) E103G possibly damaging Het
Zscan10 C T 17: 23,827,092 (GRCm39) T135I probably damaging Het
Other mutations in Ntng1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02162:Ntng1 APN 3 109,842,311 (GRCm39) nonsense probably null
IGL02367:Ntng1 APN 3 110,042,829 (GRCm39) splice site probably null
IGL02448:Ntng1 APN 3 109,841,875 (GRCm39) splice site probably benign
IGL02487:Ntng1 APN 3 109,842,363 (GRCm39) missense probably damaging 0.98
IGL02500:Ntng1 APN 3 110,042,646 (GRCm39) missense probably damaging 1.00
IGL02578:Ntng1 APN 3 110,042,710 (GRCm39) missense probably benign 0.01
IGL03009:Ntng1 APN 3 109,842,018 (GRCm39) missense possibly damaging 0.89
IGL03096:Ntng1 APN 3 110,042,665 (GRCm39) missense probably benign 0.19
R0108:Ntng1 UTSW 3 109,759,071 (GRCm39) splice site probably benign
R0326:Ntng1 UTSW 3 110,042,819 (GRCm39) nonsense probably null
R0403:Ntng1 UTSW 3 109,841,927 (GRCm39) missense probably damaging 0.97
R0702:Ntng1 UTSW 3 109,779,570 (GRCm39) missense probably damaging 1.00
R1981:Ntng1 UTSW 3 109,842,326 (GRCm39) missense possibly damaging 0.61
R2096:Ntng1 UTSW 3 109,739,871 (GRCm39) missense probably damaging 0.99
R3739:Ntng1 UTSW 3 109,842,007 (GRCm39) missense probably damaging 1.00
R3963:Ntng1 UTSW 3 109,842,184 (GRCm39) missense probably damaging 1.00
R4484:Ntng1 UTSW 3 110,051,124 (GRCm39) unclassified probably benign
R4516:Ntng1 UTSW 3 109,842,329 (GRCm39) missense probably damaging 1.00
R4518:Ntng1 UTSW 3 109,842,329 (GRCm39) missense probably damaging 1.00
R4520:Ntng1 UTSW 3 109,842,312 (GRCm39) missense probably damaging 1.00
R4523:Ntng1 UTSW 3 109,842,312 (GRCm39) missense probably damaging 1.00
R4524:Ntng1 UTSW 3 109,842,312 (GRCm39) missense probably damaging 1.00
R4776:Ntng1 UTSW 3 109,842,029 (GRCm39) missense probably damaging 1.00
R4817:Ntng1 UTSW 3 109,842,184 (GRCm39) missense probably damaging 1.00
R4827:Ntng1 UTSW 3 110,042,727 (GRCm39) missense probably damaging 1.00
R4990:Ntng1 UTSW 3 110,042,577 (GRCm39) critical splice donor site probably null
R5067:Ntng1 UTSW 3 110,042,661 (GRCm39) missense possibly damaging 0.95
R5087:Ntng1 UTSW 3 110,042,645 (GRCm39) nonsense probably null
R5196:Ntng1 UTSW 3 109,842,299 (GRCm39) missense probably damaging 1.00
R5263:Ntng1 UTSW 3 109,842,188 (GRCm39) missense probably damaging 0.99
R5743:Ntng1 UTSW 3 110,042,736 (GRCm39) missense probably damaging 1.00
R6268:Ntng1 UTSW 3 109,842,351 (GRCm39) missense probably damaging 1.00
R6292:Ntng1 UTSW 3 110,051,202 (GRCm39) unclassified probably benign
R6419:Ntng1 UTSW 3 109,690,169 (GRCm39) missense possibly damaging 0.95
R6898:Ntng1 UTSW 3 109,779,534 (GRCm39) missense probably damaging 0.98
R7081:Ntng1 UTSW 3 109,759,105 (GRCm39) missense probably benign 0.00
R7090:Ntng1 UTSW 3 109,842,496 (GRCm39) nonsense probably null
R7134:Ntng1 UTSW 3 109,842,445 (GRCm39) missense probably benign
R7302:Ntng1 UTSW 3 109,739,933 (GRCm39) missense possibly damaging 0.94
R7353:Ntng1 UTSW 3 110,042,763 (GRCm39) missense probably damaging 1.00
R7408:Ntng1 UTSW 3 109,760,398 (GRCm39) missense probably benign 0.00
R7610:Ntng1 UTSW 3 109,842,141 (GRCm39) missense probably damaging 1.00
R7686:Ntng1 UTSW 3 109,842,330 (GRCm39) missense possibly damaging 0.80
R7972:Ntng1 UTSW 3 110,042,802 (GRCm39) missense probably benign 0.02
R9210:Ntng1 UTSW 3 109,779,633 (GRCm39) missense probably damaging 1.00
R9214:Ntng1 UTSW 3 109,841,921 (GRCm39) missense probably damaging 1.00
R9266:Ntng1 UTSW 3 110,051,162 (GRCm39) missense unknown
R9266:Ntng1 UTSW 3 110,050,923 (GRCm39) unclassified probably benign
R9364:Ntng1 UTSW 3 110,042,680 (GRCm39) missense probably damaging 0.97
R9593:Ntng1 UTSW 3 109,842,224 (GRCm39) missense probably damaging 1.00
R9596:Ntng1 UTSW 3 110,042,956 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AGGCGATTAGAGTGCTAACACATGC -3'
(R):5'- TCAATGGTCCCTTCTCCCAAAGGC -3'

Sequencing Primer
(F):5'- GTGCTAACACATGCTTACAAATGG -3'
(R):5'- CACAAAAATGCTGTGTGGTTTGAG -3'
Posted On 2013-07-30