Incidental Mutation 'R7686:Ntng1'
ID 593079
Institutional Source Beutler Lab
Gene Symbol Ntng1
Ensembl Gene ENSMUSG00000059857
Gene Name netrin G1
Synonyms Lmnt1, A930010C08Rik
MMRRC Submission 045751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7686 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 109687356-110051327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109842330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 148 (I148L)
Ref Sequence ENSEMBL: ENSMUSP00000072397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072596] [ENSMUST00000106570] [ENSMUST00000106571] [ENSMUST00000106575] [ENSMUST00000128219] [ENSMUST00000131027] [ENSMUST00000133268] [ENSMUST00000138344] [ENSMUST00000138953] [ENSMUST00000156177]
AlphaFold Q8R4G0
Predicted Effect possibly damaging
Transcript: ENSMUST00000072596
AA Change: I148L

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072397
Gene: ENSMUSG00000059857
AA Change: I148L

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 benign
Transcript: ENSMUST00000106570
AA Change: I148L

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102180
Gene: ENSMUSG00000059857
AA Change: I148L

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 possibly damaging
Transcript: ENSMUST00000106571
AA Change: I148L

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102181
Gene: ENSMUSG00000059857
AA Change: I148L

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 possibly damaging
Transcript: ENSMUST00000106575
AA Change: I148L

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102185
Gene: ENSMUSG00000059857
AA Change: I148L

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
AA Change: I148L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000116579
Gene: ENSMUSG00000059857
AA Change: I148L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LamNT 59 295 1.5e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131027
AA Change: I148L

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118800
Gene: ENSMUSG00000059857
AA Change: I148L

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 possibly damaging
Transcript: ENSMUST00000133268
AA Change: I148L

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117371
Gene: ENSMUSG00000059857
AA Change: I148L

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 benign
Transcript: ENSMUST00000138344
AA Change: I148L

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120688
Gene: ENSMUSG00000059857
AA Change: I148L

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 benign
Transcript: ENSMUST00000138953
AA Change: I148L

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116213
Gene: ENSMUSG00000059857
AA Change: I148L

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 benign
Transcript: ENSMUST00000156177
AA Change: I148L

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119534
Gene: ENSMUSG00000059857
AA Change: I148L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A T 1: 66,887,557 (GRCm39) probably null Het
Adgrg5 A T 8: 95,664,430 (GRCm39) I347F Het
Agmo T C 12: 37,469,973 (GRCm39) V431A probably benign Het
Arl14epl A G 18: 47,065,523 (GRCm39) D96G probably damaging Het
Asxl1 C T 2: 153,233,534 (GRCm39) S113F probably damaging Het
Axdnd1 A T 1: 156,223,034 (GRCm39) C81* probably null Het
Bloc1s3 C T 7: 19,241,531 (GRCm39) probably benign Het
Bmper C G 9: 23,310,840 (GRCm39) L425V probably benign Het
Bok A T 1: 93,622,822 (GRCm39) T194S probably benign Het
Bpifa5 A T 2: 154,007,432 (GRCm39) I125L probably benign Het
Brcc3dc T C 10: 108,535,301 (GRCm39) E218G probably damaging Het
Brd10 A T 19: 29,694,870 (GRCm39) I1541N probably benign Het
Brpf3 T C 17: 29,025,908 (GRCm39) I327T probably damaging Het
Camk1 T A 6: 113,313,158 (GRCm39) N297Y probably damaging Het
Catsper2 C T 2: 121,227,937 (GRCm39) probably null Het
Ccdc171 A T 4: 83,575,556 (GRCm39) N480I unknown Het
Cd83 A G 13: 43,938,848 (GRCm39) M22V probably benign Het
Col1a2 A G 6: 4,518,964 (GRCm39) D243G unknown Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Ctla4 A T 1: 60,951,752 (GRCm39) T94S probably benign Het
Cyp2b19 T C 7: 26,461,768 (GRCm39) F196S probably damaging Het
Dhx32 A T 7: 133,361,430 (GRCm39) M1K probably null Het
Epha3 T A 16: 63,593,651 (GRCm39) I146F probably damaging Het
Erbb2 T A 11: 98,326,399 (GRCm39) S1008T probably benign Het
Esp34 A G 17: 38,870,534 (GRCm39) R143G possibly damaging Het
Fam135b T C 15: 71,335,233 (GRCm39) K654E possibly damaging Het
Fgr T C 4: 132,725,324 (GRCm39) M343T probably benign Het
Fibcd1 T G 2: 31,723,880 (GRCm39) D253A probably damaging Het
Foxk1 C T 5: 142,387,625 (GRCm39) S116L probably damaging Het
Gimap8 G A 6: 48,633,006 (GRCm39) G275E probably damaging Het
Glp1r T C 17: 31,144,633 (GRCm39) Y269H probably damaging Het
H2ac20 T C 3: 96,127,886 (GRCm39) E92G probably damaging Het
Lbr A G 1: 181,645,086 (GRCm39) F522S probably damaging Het
Lca5 T C 9: 83,277,292 (GRCm39) N684S probably benign Het
Leng8 C A 7: 4,146,504 (GRCm39) S372* probably null Het
Lrp2 A G 2: 69,319,581 (GRCm39) Y1981H probably damaging Het
Lrrc37a T G 11: 103,389,062 (GRCm39) Q2121P unknown Het
Lrrn2 A G 1: 132,866,332 (GRCm39) T466A probably benign Het
Map3k19 A T 1: 127,749,985 (GRCm39) L1122* probably null Het
Mfsd6 T C 1: 52,701,554 (GRCm39) E632G probably benign Het
Mfsd6l C T 11: 68,448,052 (GRCm39) A301V probably benign Het
Mro A T 18: 74,010,510 (GRCm39) M197L probably benign Het
Ncam2 A T 16: 81,418,342 (GRCm39) E799V probably damaging Het
Nek9 A T 12: 85,350,433 (GRCm39) D880E probably benign Het
Or1ad6 A G 11: 50,860,582 (GRCm39) T246A possibly damaging Het
Or5ac23 T A 16: 59,149,379 (GRCm39) R164S probably damaging Het
P2ry13 C T 3: 59,117,439 (GRCm39) G113D probably damaging Het
Pnpt1 A T 11: 29,107,070 (GRCm39) T687S probably damaging Het
Pou2af1 T C 9: 51,149,486 (GRCm39) Y193H probably damaging Het
Ppp1r14c T A 10: 3,413,396 (GRCm39) I143N probably damaging Het
Ppp1r16a A T 15: 76,578,783 (GRCm39) S496C probably benign Het
Prdm12 G A 2: 31,530,229 (GRCm39) R40Q probably damaging Het
Rabepk C T 2: 34,669,308 (GRCm39) G362S probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf26rt A T 6: 76,474,013 (GRCm39) L201H probably damaging Het
Robo2 C A 16: 73,755,293 (GRCm39) V743F probably damaging Het
Scart1 T A 7: 139,802,116 (GRCm39) C148* probably null Het
Scart2 A G 7: 139,828,965 (GRCm39) N208S probably benign Het
Smg1 A T 7: 117,767,081 (GRCm39) Y1804N unknown Het
Ssh2 A G 11: 77,316,150 (GRCm39) E257G possibly damaging Het
Stoml3 T C 3: 53,410,589 (GRCm39) I101T probably damaging Het
Stxbp5 T C 10: 9,645,154 (GRCm39) D950G probably damaging Het
Syt10 T C 15: 89,698,360 (GRCm39) D328G probably damaging Het
Taf3 T C 2: 9,956,299 (GRCm39) K623E probably damaging Het
Tas2r134 T A 2: 51,518,255 (GRCm39) S245T possibly damaging Het
Tfap2b G C 1: 19,284,511 (GRCm39) D140H probably damaging Het
Tjp3 C T 10: 81,113,885 (GRCm39) V458I probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Tram1l1 T C 3: 124,114,959 (GRCm39) F40L probably benign Het
Ttc29 A T 8: 79,119,759 (GRCm39) T464S probably benign Het
Txndc9 A T 1: 38,026,849 (GRCm39) M192K probably benign Het
Urb2 C A 8: 124,771,911 (GRCm39) A1444E probably benign Het
Uty G A Y: 1,158,075 (GRCm39) T657I possibly damaging Het
Vmn1r1 A T 1: 181,985,590 (GRCm39) V25D probably damaging Het
Vmn2r65 A T 7: 84,589,744 (GRCm39) I724N probably damaging Het
Xkr6 C T 14: 63,844,295 (GRCm39) T106M possibly damaging Het
Zc3h18 G A 8: 123,140,615 (GRCm39) R850Q unknown Het
Zfp341 A G 2: 154,466,781 (GRCm39) E50G probably damaging Het
Zfp62 C A 11: 49,107,985 (GRCm39) A692E 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
R0699:Ntng1 UTSW 3 109,779,611 (GRCm39) missense probably damaging 1.00
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
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'- GATTTCCAAGACCGTGTGCTG -3'
(R):5'- AGCCAGTATTTAACGCACCC -3'

Sequencing Primer
(F):5'- GACCGTGTGCTGAGATAAATCCTTC -3'
(R):5'- GGCAACCCTTACATGTGCAATAATG -3'
Posted On 2019-11-12