Incidental Mutation 'R5974:Negr1'
ID471598
Institutional Source Beutler Lab
Gene Symbol Negr1
Ensembl Gene ENSMUSG00000040037
Gene Nameneuronal growth regulator 1
SynonymsNtra, 5330422G01Rik
MMRRC Submission 044157-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5974 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location156561794-157316445 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 157069286 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 213 (V213E)
Ref Sequence ENSEMBL: ENSMUSP00000041132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041425] [ENSMUST00000074015] [ENSMUST00000106065]
Predicted Effect probably damaging
Transcript: ENSMUST00000041425
AA Change: V213E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000041132
Gene: ENSMUSG00000040037
AA Change: V213E

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
IG 39 130 2.52e-9 SMART
IGc2 145 204 3.22e-16 SMART
IGc2 230 298 3.82e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074015
AA Change: V213E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073664
Gene: ENSMUSG00000040037
AA Change: V213E

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
IG 39 130 2.52e-9 SMART
IGc2 145 204 3.22e-16 SMART
IGc2 230 298 3.82e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106065
AA Change: V213E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101680
Gene: ENSMUSG00000040037
AA Change: V213E

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
IG 39 130 2.52e-9 SMART
IGc2 145 204 3.22e-16 SMART
IGc2 230 298 3.82e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196666
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Anapc4 T C 5: 52,845,400 L261P probably damaging Het
Aqp6 A G 15: 99,601,436 Y10C probably benign Het
Ccnb1ip1 A T 14: 50,792,205 N133K probably benign Het
Clip4 A T 17: 71,831,247 H433L probably damaging Het
Cntnap5c T A 17: 57,876,485 M62K probably benign Het
Col12a1 A G 9: 79,682,127 S1049P probably damaging Het
Col15a1 C T 4: 47,258,683 T358I probably benign Het
Coro7 A T 16: 4,631,889 D645E possibly damaging Het
Ctnnal1 C A 4: 56,817,067 W585L probably damaging Het
Ctnnd1 C A 2: 84,620,915 E114* probably null Het
Daam2 T A 17: 49,464,473 S882C probably damaging Het
Des T A 1: 75,362,984 S329T probably benign Het
Dido1 T C 2: 180,671,497 D994G probably benign Het
Dock3 A G 9: 106,994,062 V547A probably damaging Het
Ebf4 G A 2: 130,365,564 A643T probably damaging Het
Ect2 C A 3: 27,144,963 E194* probably null Het
Epb41l2 A G 10: 25,441,815 I77V possibly damaging Het
Fat3 A T 9: 16,006,528 probably null Het
Fbn2 T G 18: 58,048,920 D1803A probably damaging Het
Fbxo10 T C 4: 45,040,631 E858G probably benign Het
Fbxo24 C T 5: 137,619,650 R284Q probably benign Het
Fsip2 T A 2: 82,963,313 I425N possibly damaging Het
Fut9 A C 4: 25,620,090 Y241* probably null Het
Galr2 A G 11: 116,283,026 S161G possibly damaging Het
Gcc2 T A 10: 58,258,243 L14I probably damaging Het
Gm11127 A T 17: 36,056,785 D220E probably benign Het
Hdac11 G A 6: 91,173,214 V332I probably benign Het
Hdac7 T C 15: 97,802,072 probably null Het
Kif16b C T 2: 142,857,381 G93D probably damaging Het
Krtap11-1 C A 16: 89,570,768 C121F possibly damaging Het
Lacc1 T C 14: 77,035,077 Q93R probably damaging Het
Lama1 T C 17: 67,773,727 F1250S probably benign Het
Lmbrd2 A G 15: 9,172,115 E332G probably benign Het
Lrp2 C A 2: 69,459,548 C3649F probably damaging Het
Map1a T C 2: 121,304,376 V1653A probably benign Het
Mrpl1 T C 5: 96,231,794 probably null Het
Myo1b A G 1: 51,778,373 S577P probably damaging Het
Nedd4 T A 9: 72,743,638 probably null Het
Nlk T G 11: 78,590,966 Q223P probably benign Het
Ntn5 A G 7: 45,691,424 H162R probably damaging Het
Nupl2 T C 5: 24,167,402 S63P probably damaging Het
Obscn C A 11: 59,076,547 D477Y probably damaging Het
Olfr101 A T 17: 37,300,338 I28N possibly damaging Het
Olfr1037 T C 2: 86,084,881 S299G probably benign Het
Olfr1434 T C 19: 12,283,836 S263P probably damaging Het
Pabpn1 A G 14: 54,897,160 T280A probably damaging Het
Per3 A T 4: 151,042,737 V109E possibly damaging Het
Pira2 A C 7: 3,841,577 V485G probably benign Het
Pknox2 A G 9: 36,936,322 L133P probably damaging Het
Pros1 A C 16: 62,900,667 N195T probably damaging Het
Rffl T C 11: 82,806,151 K289E probably damaging Het
Ripk1 T A 13: 34,030,101 Y475* probably null Het
Ryr2 A G 13: 11,714,511 probably null Het
Sgk1 T A 10: 21,996,249 N241K probably damaging Het
Skint1 T A 4: 112,019,319 S146T probably benign Het
Sox30 G T 11: 45,981,073 D252Y probably damaging Het
Syngap1 A G 17: 26,963,038 Y1002C probably damaging Het
Tiam2 A G 17: 3,414,809 D271G possibly damaging Het
Ticam1 T C 17: 56,271,178 T306A probably benign Het
Tmem252 A G 19: 24,674,268 E67G probably benign Het
Tnxb T G 17: 34,685,707 F1149V probably damaging Het
Ubr4 A G 4: 139,421,078 probably null Het
Unc50 A G 1: 37,437,209 D150G probably benign Het
Ywhag A C 5: 135,911,629 L37R probably damaging Het
Zfp296 T C 7: 19,577,937 L123P probably benign Het
Zfp418 G T 7: 7,182,200 Q387H possibly damaging Het
Zfp882 T C 8: 71,913,155 F53L probably damaging Het
Other mutations in Negr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Negr1 APN 3 157146217 missense probably damaging 1.00
IGL01635:Negr1 APN 3 156562292 missense probably benign 0.00
IGL02006:Negr1 APN 3 157016173 splice site probably benign
IGL02427:Negr1 APN 3 156562190 start gained probably benign
IGL02542:Negr1 APN 3 156562225 missense probably damaging 1.00
PIT4466001:Negr1 UTSW 3 156859598 missense probably benign 0.44
R0241:Negr1 UTSW 3 157208399 intron probably benign
R0496:Negr1 UTSW 3 157016267 missense probably damaging 1.00
R0506:Negr1 UTSW 3 157160748 splice site probably benign
R0507:Negr1 UTSW 3 156562225 missense probably damaging 0.97
R0634:Negr1 UTSW 3 157016266 missense possibly damaging 0.51
R1324:Negr1 UTSW 3 157069223 missense probably damaging 1.00
R1923:Negr1 UTSW 3 156562199 missense probably benign 0.06
R4569:Negr1 UTSW 3 157208376 intron probably benign
R4592:Negr1 UTSW 3 157208386 intron probably benign
R4874:Negr1 UTSW 3 156859445 missense probably damaging 0.98
R5137:Negr1 UTSW 3 157016196 missense probably damaging 0.99
R5330:Negr1 UTSW 3 157069276 nonsense probably null
R5331:Negr1 UTSW 3 157069276 nonsense probably null
R6560:Negr1 UTSW 3 157312857 missense probably benign
R7506:Negr1 UTSW 3 157069233 nonsense probably null
R7677:Negr1 UTSW 3 157069186 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTTGTTTTCCTTGAATGAAGCCTC -3'
(R):5'- ATTGCTGGGATCTGCTAAGG -3'

Sequencing Primer
(F):5'- TCCTTGAATGAAGCCTCTAACGG -3'
(R):5'- ATCTGCTAAGGCCATGGTAC -3'
Posted On2017-03-31