Incidental Mutation 'R7765:Nr2e1'
ID 598188
Institutional Source Beutler Lab
Gene Symbol Nr2e1
Ensembl Gene ENSMUSG00000019803
Gene Name nuclear receptor subfamily 2, group E, member 1
Synonyms tailless, Mtll, Tlx, Nr2e1
MMRRC Submission 045821-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R7765 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 42437959-42459628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42450433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 60 (C60R)
Ref Sequence ENSEMBL: ENSMUSP00000019938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019938]
AlphaFold Q64104
Predicted Effect probably benign
Transcript: ENSMUST00000019938
AA Change: C60R

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000019938
Gene: ENSMUSG00000019803
AA Change: C60R

DomainStartEndE-ValueType
ZnF_C4 13 86 2.04e-36 SMART
HOLI 187 354 1.42e-35 SMART
Meta Mutation Damage Score 0.9581 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes have small brains, hypoplasia of cerebrum and olfactory lobes, thin optic layers, reduced retinal vessels and hydrocephaly on some genetic backgrounds. Mutants do poorly in sensorimotor tests, are aggressive and females lack maternal behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 T C 14: 66,297,345 (GRCm39) E187G probably damaging Het
Adam28 C T 14: 68,846,555 (GRCm39) probably null Het
Ap2a1 G A 7: 44,559,160 (GRCm39) T189M probably damaging Het
Apaf1 A G 10: 90,859,644 (GRCm39) Y845H probably benign Het
Asb14 G T 14: 26,619,718 (GRCm39) V55F probably benign Het
Brap A T 5: 121,800,192 (GRCm39) D71V probably damaging Het
Ccdc93 T G 1: 121,427,042 (GRCm39) F610V probably damaging Het
Cfap46 T G 7: 139,231,480 (GRCm39) D911A Het
Chn2 T C 6: 54,275,137 (GRCm39) probably null Het
Cib3 A G 8: 72,958,269 (GRCm39) F156S probably damaging Het
Csnk2a1-ps3 G A 1: 156,352,354 (GRCm39) G185D possibly damaging Het
Ctif A T 18: 75,738,715 (GRCm39) V164D probably damaging Het
Ddx27 T A 2: 166,869,879 (GRCm39) F405I probably damaging Het
Dnttip2 A G 3: 122,069,594 (GRCm39) T270A probably benign Het
Dst T A 1: 34,314,775 (GRCm39) S4455T probably damaging Het
Efcab8 A G 2: 153,685,110 (GRCm39) K47R Het
Efhd2 T C 4: 141,601,886 (GRCm39) E98G probably damaging Het
Fcmr T A 1: 130,802,025 (GRCm39) L93Q probably damaging Het
Fhdc1 T A 3: 84,351,906 (GRCm39) E1106D probably benign Het
Gcnt1 C T 19: 17,306,723 (GRCm39) G334D probably damaging Het
Hltf T C 3: 20,145,647 (GRCm39) F488L probably benign Het
Hmgxb4 C A 8: 75,727,436 (GRCm39) H140N probably damaging Het
Ifi214 A T 1: 173,352,402 (GRCm39) F342L probably damaging Het
Ip6k1 A G 9: 107,909,288 (GRCm39) D105G possibly damaging Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kif18a G A 2: 109,137,285 (GRCm39) D506N probably benign Het
Klf17 T A 4: 117,617,812 (GRCm39) M182L probably benign Het
Kmt2d A G 15: 98,750,215 (GRCm39) F2493L unknown Het
Lefty1 A G 1: 180,764,112 (GRCm39) E84G probably damaging Het
Lyst T G 13: 13,884,117 (GRCm39) L2975R possibly damaging Het
Magea5 G A X: 153,837,174 (GRCm39) P73S possibly damaging Het
Mctp2 T C 7: 71,740,079 (GRCm39) probably null Het
Mprip C T 11: 59,649,047 (GRCm39) T917M possibly damaging Het
Myh8 T A 11: 67,194,481 (GRCm39) I1564N probably benign Het
Npc1 A T 18: 12,328,105 (GRCm39) M1068K probably benign Het
Nrxn3 A G 12: 89,780,254 (GRCm39) I29V probably benign Het
Ntsr1 T A 2: 180,180,610 (GRCm39) H305Q probably damaging Het
Or2y1e A G 11: 49,218,571 (GRCm39) E111G probably damaging Het
Or8g35 A G 9: 39,381,612 (GRCm39) S137P probably benign Het
Or8h10 T A 2: 86,808,538 (GRCm39) I201F probably damaging Het
Pate2 A C 9: 35,581,197 (GRCm39) E22D probably benign Het
Pcdhb22 A G 18: 37,652,158 (GRCm39) T209A probably damaging Het
Pdss2 C T 10: 43,340,628 (GRCm39) S352F probably benign Het
Pfn3 T A 13: 55,562,900 (GRCm39) D27V probably damaging Het
Pigg T G 5: 108,461,920 (GRCm39) S84A probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Prss22 C T 17: 24,213,592 (GRCm39) G233E probably damaging Het
Rad51b T C 12: 79,850,044 (GRCm39) probably null Het
Scn10a A G 9: 119,438,970 (GRCm39) V1632A possibly damaging Het
Serpinb3d T G 1: 107,007,512 (GRCm39) D158A probably damaging Het
Sh3yl1 T C 12: 31,008,868 (GRCm39) L266P probably damaging Het
Sidt2 A T 9: 45,852,873 (GRCm39) probably null Het
Stox1 C T 10: 62,501,778 (GRCm39) V261M probably benign Het
Taf7l2 T A 10: 115,949,158 (GRCm39) K123* probably null Het
Tll1 A G 8: 64,504,483 (GRCm39) Y638H probably damaging Het
Tst A T 15: 78,289,816 (GRCm39) M73K possibly damaging Het
Tuba4a C T 1: 75,193,003 (GRCm39) V232M probably benign Het
Unk T A 11: 115,943,908 (GRCm39) V343D probably benign Het
Usf3 T C 16: 44,039,426 (GRCm39) V1302A probably benign Het
Usp32 A T 11: 84,885,234 (GRCm39) L1271H probably damaging Het
Vwa5b2 C T 16: 20,413,361 (GRCm39) P192L probably benign Het
Zfp995 A G 17: 22,100,984 (GRCm39) Y38H probably damaging Het
Other mutations in Nr2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Nr2e1 APN 10 42,444,449 (GRCm39) missense probably damaging 1.00
IGL01936:Nr2e1 APN 10 42,443,969 (GRCm39) missense possibly damaging 0.90
IGL02272:Nr2e1 APN 10 42,443,975 (GRCm39) missense probably damaging 1.00
IGL03092:Nr2e1 APN 10 42,447,478 (GRCm39) missense probably damaging 1.00
IGL03405:Nr2e1 APN 10 42,444,377 (GRCm39) missense probably damaging 1.00
Dubious UTSW 10 42,447,483 (GRCm39) nonsense probably null
BB010:Nr2e1 UTSW 10 42,439,379 (GRCm39) missense probably damaging 1.00
BB020:Nr2e1 UTSW 10 42,439,379 (GRCm39) missense probably damaging 1.00
R1581:Nr2e1 UTSW 10 42,443,964 (GRCm39) missense probably benign 0.12
R1807:Nr2e1 UTSW 10 42,458,905 (GRCm39) splice site probably null
R1879:Nr2e1 UTSW 10 42,444,367 (GRCm39) critical splice donor site probably null
R1944:Nr2e1 UTSW 10 42,448,774 (GRCm39) missense probably benign
R2426:Nr2e1 UTSW 10 42,439,481 (GRCm39) missense probably damaging 1.00
R2842:Nr2e1 UTSW 10 42,444,441 (GRCm39) missense probably damaging 0.99
R4515:Nr2e1 UTSW 10 42,454,187 (GRCm39) missense probably benign
R5305:Nr2e1 UTSW 10 42,447,483 (GRCm39) nonsense probably null
R5316:Nr2e1 UTSW 10 42,447,487 (GRCm39) missense probably benign 0.10
R5325:Nr2e1 UTSW 10 42,448,780 (GRCm39) missense probably damaging 1.00
R5908:Nr2e1 UTSW 10 42,448,765 (GRCm39) missense probably benign
R7040:Nr2e1 UTSW 10 42,444,374 (GRCm39) missense probably damaging 0.99
R7593:Nr2e1 UTSW 10 42,439,475 (GRCm39) missense probably damaging 1.00
R7933:Nr2e1 UTSW 10 42,439,379 (GRCm39) missense probably damaging 1.00
R8158:Nr2e1 UTSW 10 42,458,881 (GRCm39) missense probably benign 0.00
R8342:Nr2e1 UTSW 10 42,444,425 (GRCm39) missense probably damaging 1.00
R8916:Nr2e1 UTSW 10 42,443,864 (GRCm39) missense possibly damaging 0.94
R9145:Nr2e1 UTSW 10 42,448,948 (GRCm39) missense probably benign 0.02
R9189:Nr2e1 UTSW 10 42,454,268 (GRCm39) missense probably damaging 0.99
R9381:Nr2e1 UTSW 10 42,439,468 (GRCm39) missense probably damaging 1.00
R9499:Nr2e1 UTSW 10 42,447,487 (GRCm39) missense probably benign 0.10
R9552:Nr2e1 UTSW 10 42,447,487 (GRCm39) missense probably benign 0.10
Z1177:Nr2e1 UTSW 10 42,444,423 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATGCATAGGAGTGCCATC -3'
(R):5'- TAACCTGAGGTCGAGGACTG -3'

Sequencing Primer
(F):5'- GCATAGGAGTGCCATCTATTTTC -3'
(R):5'- GACACTCACTTACCTGGTAATGC -3'
Posted On 2019-11-26