Incidental Mutation 'R1397:Nr2c2'
ID 160185
Institutional Source Beutler Lab
Gene Symbol Nr2c2
Ensembl Gene ENSMUSG00000005893
Gene Name nuclear receptor subfamily 2, group C, member 2
Synonyms Tr4, TAK1
MMRRC Submission 039459-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # R1397 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 92068426-92150039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92126745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 78 (I78T)
Ref Sequence ENSEMBL: ENSMUSP00000138465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113460] [ENSMUST00000113463] [ENSMUST00000146175]
AlphaFold P49117
Predicted Effect probably benign
Transcript: ENSMUST00000113460
AA Change: I78T

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109087
Gene: ENSMUSG00000005893
AA Change: I78T

DomainStartEndE-ValueType
ZnF_C4 114 185 4.33e-40 SMART
Blast:HOLI 238 324 4e-46 BLAST
HOLI 388 554 1.9e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113463
AA Change: I111T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109090
Gene: ENSMUSG00000005893
AA Change: I111T

DomainStartEndE-ValueType
ZnF_C4 147 218 4.33e-40 SMART
Blast:HOLI 271 357 6e-46 BLAST
HOLI 421 587 1.9e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133321
Predicted Effect probably benign
Transcript: ENSMUST00000146175
AA Change: I78T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000138465
Gene: ENSMUSG00000005893
AA Change: I78T

DomainStartEndE-ValueType
ZnF_C4 114 185 4.33e-40 SMART
Blast:HOLI 238 324 7e-47 BLAST
Pfam:Hormone_recep 367 493 8.8e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204538
Meta Mutation Damage Score 0.0662 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice display reduced body size, reduced male fertility, and impaired spermatogenesis. Mice homozygous for a conditional allele activated in the CNS exhibit increased thermal, mechanical and chemical nociception threshold, decreased pruritus and neuronal loss in the spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,504,733 (GRCm39) E1222G probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Ankmy2 T C 12: 36,220,440 (GRCm39) probably benign Het
Arhgef10l C T 4: 140,271,754 (GRCm39) G827D probably damaging Het
Chrac1 A G 15: 72,962,293 (GRCm39) D3G possibly damaging Het
Dmrtb1 G C 4: 107,534,236 (GRCm39) P349R probably damaging Het
Drd1 A G 13: 54,207,573 (GRCm39) Y207H probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Epb41l3 T A 17: 69,569,343 (GRCm39) probably null Het
Fam13b C T 18: 34,578,636 (GRCm39) M705I probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Iqgap2 A G 13: 95,768,673 (GRCm39) I1409T probably benign Het
Itih1 C T 14: 30,651,862 (GRCm39) probably benign Het
Itih5 A T 2: 10,245,618 (GRCm39) D569V probably benign Het
Krt9 A T 11: 100,083,464 (GRCm39) L189Q probably damaging Het
Mfsd11 T C 11: 116,764,123 (GRCm39) F368S probably damaging Het
Neb C A 2: 52,133,955 (GRCm39) V3343F probably damaging Het
Nfe2l3 T C 6: 51,410,274 (GRCm39) S130P probably benign Het
Nid1 G A 13: 13,683,380 (GRCm39) A1153T possibly damaging Het
Nrp1 T G 8: 129,145,197 (GRCm39) Y84* probably null Het
Pate2 T A 9: 35,580,991 (GRCm39) F2I probably damaging Het
Pign A G 1: 105,585,496 (GRCm39) S18P probably damaging Het
Pla2r1 T A 2: 60,365,106 (GRCm39) T155S probably benign Het
Rabl3 C T 16: 37,360,336 (GRCm39) probably benign Het
Rhbg C T 3: 88,155,753 (GRCm39) V66I probably benign Het
Rimkla C T 4: 119,325,308 (GRCm39) G367E probably benign Het
Rnpepl1 C A 1: 92,844,881 (GRCm39) T391N probably damaging Het
Rnps1 C T 17: 24,631,031 (GRCm39) probably benign Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Slc25a48 A C 13: 56,612,864 (GRCm39) D254A probably damaging Het
Slc28a2 T A 2: 122,291,012 (GRCm39) C659* probably null Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31d1a C T 13: 59,852,853 (GRCm39) probably benign Het
Srrm1 A C 4: 135,048,742 (GRCm39) probably benign Het
Srrt A G 5: 137,298,523 (GRCm39) V247A possibly damaging Het
Tnks2 T C 19: 36,857,901 (GRCm39) probably benign Het
Trim33 A G 3: 103,217,750 (GRCm39) probably benign Het
Trim42 T A 9: 97,247,674 (GRCm39) I341F probably damaging Het
Trim55 T C 3: 19,698,801 (GRCm39) F10S probably benign Het
Trpm1 T C 7: 63,867,406 (GRCm39) W369R probably damaging Het
Vps13d C T 4: 144,867,904 (GRCm39) R1976H probably damaging Het
Other mutations in Nr2c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Nr2c2 APN 6 92,126,700 (GRCm39) missense probably damaging 1.00
IGL01129:Nr2c2 APN 6 92,135,397 (GRCm39) missense probably benign 0.08
IGL01578:Nr2c2 APN 6 92,139,019 (GRCm39) missense probably benign 0.01
IGL02281:Nr2c2 APN 6 92,131,495 (GRCm39) missense probably benign 0.20
R1385:Nr2c2 UTSW 6 92,131,451 (GRCm39) missense probably damaging 1.00
R1503:Nr2c2 UTSW 6 92,082,312 (GRCm39) missense probably benign
R1691:Nr2c2 UTSW 6 92,133,673 (GRCm39) missense probably damaging 0.99
R1779:Nr2c2 UTSW 6 92,136,224 (GRCm39) missense possibly damaging 0.50
R2655:Nr2c2 UTSW 6 92,140,119 (GRCm39) missense probably damaging 0.99
R3840:Nr2c2 UTSW 6 92,140,119 (GRCm39) missense probably damaging 0.99
R3841:Nr2c2 UTSW 6 92,140,119 (GRCm39) missense probably damaging 0.99
R3923:Nr2c2 UTSW 6 92,137,382 (GRCm39) missense probably damaging 0.98
R3926:Nr2c2 UTSW 6 92,137,382 (GRCm39) missense probably damaging 0.98
R3945:Nr2c2 UTSW 6 92,140,119 (GRCm39) missense probably damaging 0.99
R3946:Nr2c2 UTSW 6 92,140,119 (GRCm39) missense probably damaging 0.99
R4721:Nr2c2 UTSW 6 92,116,828 (GRCm39) missense possibly damaging 0.49
R5038:Nr2c2 UTSW 6 92,116,803 (GRCm39) missense probably damaging 1.00
R5101:Nr2c2 UTSW 6 92,131,497 (GRCm39) critical splice donor site probably null
R5524:Nr2c2 UTSW 6 92,116,746 (GRCm39) splice site probably null
R6884:Nr2c2 UTSW 6 92,135,374 (GRCm39) missense probably benign 0.05
R7046:Nr2c2 UTSW 6 92,135,338 (GRCm39) missense probably damaging 1.00
R7278:Nr2c2 UTSW 6 92,136,359 (GRCm39) missense probably damaging 0.96
R7316:Nr2c2 UTSW 6 92,131,444 (GRCm39) missense probably damaging 0.99
R9238:Nr2c2 UTSW 6 92,144,530 (GRCm39) missense probably damaging 1.00
R9497:Nr2c2 UTSW 6 92,133,673 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TGCAAGTGCAGACAGGTCTAAACAG -3'
(R):5'- CCTCATAACCTTGCCTATGCCAGTG -3'

Sequencing Primer
(F):5'- AGGTCTAAACAGGTCTAAAGACAC -3'
(R):5'- CAGTGTCTTTTCCTTGGATTAGC -3'
Posted On 2014-03-14