Incidental Mutation 'R1981:Ntng1'
ID 222270
Institutional Source Beutler Lab
Gene Symbol Ntng1
Ensembl Gene ENSMUSG00000059857
Gene Name netrin G1
Synonyms Lmnt1, A930010C08Rik
MMRRC Submission 039993-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1981 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 109687356-110051327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109842326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 149 (V149A)
Ref Sequence ENSEMBL: ENSMUSP00000102185 (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: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072397
Gene: ENSMUSG00000059857
AA Change: V149A

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: V149A

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102180
Gene: ENSMUSG00000059857
AA Change: V149A

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: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102181
Gene: ENSMUSG00000059857
AA Change: V149A

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: V149A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102185
Gene: ENSMUSG00000059857
AA Change: V149A

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 possibly damaging
Transcript: ENSMUST00000128219
AA Change: V149A

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116579
Gene: ENSMUSG00000059857
AA Change: V149A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LamNT 59 295 1.5e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000131027
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118800
Gene: ENSMUSG00000059857
AA Change: V149A

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: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117371
Gene: ENSMUSG00000059857
AA Change: V149A

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 possibly damaging
Transcript: ENSMUST00000138344
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120688
Gene: ENSMUSG00000059857
AA Change: V149A

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 possibly damaging
Transcript: ENSMUST00000138953
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116213
Gene: ENSMUSG00000059857
AA Change: V149A

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 possibly damaging
Transcript: ENSMUST00000156177
AA Change: V149A

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119534
Gene: ENSMUSG00000059857
AA Change: V149A

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 0.1757 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1 T C 17: 28,204,095 (GRCm39) V181A probably damaging Het
Aqp4 T C 18: 15,526,608 (GRCm39) D291G probably damaging Het
Atad1 G T 19: 32,673,210 (GRCm39) D224E probably benign Het
Atp1a3 T G 7: 24,700,400 (GRCm39) E33A probably benign Het
Baz2b A G 2: 59,754,024 (GRCm39) F1100L possibly damaging Het
Car7 C T 8: 105,275,009 (GRCm39) probably benign Het
Casp8 C A 1: 58,868,121 (GRCm39) probably null Het
Cdh23 A T 10: 60,214,530 (GRCm39) L1495H probably damaging Het
Ceacam9 T G 7: 16,459,232 (GRCm39) L177R probably benign Het
Col16a1 C G 4: 129,959,236 (GRCm39) P346A unknown Het
Cyp2c29 A G 19: 39,296,216 (GRCm39) probably null Het
Cyp3a13 T C 5: 137,910,118 (GRCm39) S139G probably damaging Het
Dapk2 A G 9: 66,176,180 (GRCm39) H327R probably benign Het
Ddx19b T C 8: 111,735,975 (GRCm39) T357A possibly damaging Het
Dnah2 A G 11: 69,365,151 (GRCm39) Y1944H probably damaging Het
Dnai2 T A 11: 114,623,755 (GRCm39) V6E probably damaging Het
Eipr1 T C 12: 28,913,024 (GRCm39) Y242H probably damaging Het
Fam149a T G 8: 45,834,778 (GRCm39) D7A probably damaging Het
Fam217a T A 13: 35,100,737 (GRCm39) D140V probably benign Het
Fat4 G A 3: 39,045,813 (GRCm39) C3944Y probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Gcsam A T 16: 45,440,337 (GRCm39) T127S probably damaging Het
Git2 C T 5: 114,887,620 (GRCm39) probably benign Het
Gm1527 T C 3: 28,969,984 (GRCm39) probably null Het
Gtf3c1 A G 7: 125,243,444 (GRCm39) L1720P possibly damaging Het
H2-T9 T A 17: 36,439,614 (GRCm39) D122V probably damaging Het
Hat1 A G 2: 71,220,321 (GRCm39) T28A probably benign Het
Igf2r G A 17: 12,952,790 (GRCm39) Q219* probably null Het
Impdh1 T A 6: 29,206,450 (GRCm39) D129V possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Ltbp3 A G 19: 5,808,107 (GRCm39) Q1250R probably benign Het
Mansc4 T A 6: 146,977,173 (GRCm39) I148F probably benign Het
Mast2 T C 4: 116,172,037 (GRCm39) Y569C probably damaging Het
Mcoln3 A T 3: 145,846,345 (GRCm39) K552* probably null Het
Mctp2 T C 7: 71,814,446 (GRCm39) Q601R probably benign Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Myo19 A T 11: 84,782,996 (GRCm39) Q170L possibly damaging Het
Myo1h T C 5: 114,491,898 (GRCm39) F676S probably damaging Het
Myo9a A G 9: 59,801,429 (GRCm39) T1876A probably benign Het
Nav3 G T 10: 109,554,951 (GRCm39) probably benign Het
Ndor1 T C 2: 25,145,236 (GRCm39) Y43C probably damaging Het
Nlrp1a A G 11: 70,989,764 (GRCm39) V1102A probably damaging Het
Nmnat3 T C 9: 98,292,352 (GRCm39) I199T possibly damaging Het
Nsun7 T C 5: 66,418,557 (GRCm39) S96P probably damaging Het
Oas3 T C 5: 120,899,900 (GRCm39) probably benign Het
Or10v9 T G 19: 11,832,371 (GRCm39) Q315H possibly damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Or5bw2 A G 7: 6,573,557 (GRCm39) D189G probably benign Het
Or6z7 T C 7: 6,483,931 (GRCm39) M75V probably benign Het
Or8b3 T C 9: 38,315,031 (GRCm39) L287P probably damaging Het
Or8k53 A T 2: 86,177,486 (GRCm39) I208N possibly damaging Het
Pax2 G A 19: 44,806,904 (GRCm39) D301N probably damaging Het
Pcsk4 T A 10: 80,161,613 (GRCm39) E176V probably damaging Het
Pkhd1 G A 1: 20,187,284 (GRCm39) P3675S probably benign Het
Plekho2 A T 9: 65,465,974 (GRCm39) L138Q probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr11 T A 11: 86,994,116 (GRCm39) D100V probably damaging Het
Qars1 A G 9: 108,392,227 (GRCm39) N136D probably damaging Het
Rbm15b A G 9: 106,758,822 (GRCm39) probably benign Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rsrc1 A G 3: 67,257,338 (GRCm39) D250G probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Scn2a C A 2: 65,520,514 (GRCm39) N503K probably damaging Het
Sh2d6 G A 6: 72,494,527 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,157 (GRCm39) T475A probably benign Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Tbx20 T A 9: 24,682,209 (GRCm39) K48N possibly damaging Het
Tead1 C A 7: 112,490,952 (GRCm39) D231E probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tjp1 A T 7: 64,962,603 (GRCm39) F1111L probably damaging Het
Tlr11 T A 14: 50,599,445 (GRCm39) I477K possibly damaging Het
Ttc13 A G 8: 125,440,926 (GRCm39) probably null Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Usp15 T A 10: 122,960,946 (GRCm39) probably benign Het
Usp18 A G 6: 121,229,476 (GRCm39) K32E probably benign Het
Vmn1r12 A T 6: 57,136,646 (GRCm39) M248L probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp930 T A 8: 69,680,824 (GRCm39) L172H probably damaging Het
Zfp976 G A 7: 42,263,046 (GRCm39) H264Y 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
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'- ACCTGTCTTTGATCTCGAAGTGG -3'
(R):5'- TGATGCGAGTACCCCTGAAC -3'

Sequencing Primer
(F):5'- GAGTACCCAGTGGAGTACTCTTC -3'
(R):5'- GAGTACCCCTGAACTGGCAC -3'
Posted On 2014-08-25