Incidental Mutation 'R6237:Pnrc2'
ID 504987
Institutional Source Beutler Lab
Gene Symbol Pnrc2
Ensembl Gene ENSMUSG00000028675
Gene Name proline-rich nuclear receptor coactivator 2
Synonyms D4Bwg0593e, 0610011E17Rik
MMRRC Submission 044362-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.459) question?
Stock # R6237 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 135598229-135601157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135599397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 117 (H117Q)
Ref Sequence ENSEMBL: ENSMUSP00000030436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030436] [ENSMUST00000102544] [ENSMUST00000126641] [ENSMUST00000142585] [ENSMUST00000180300]
AlphaFold Q9CR73
Predicted Effect probably benign
Transcript: ENSMUST00000030436
AA Change: H117Q

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030436
Gene: ENSMUSG00000028675
AA Change: H117Q

DomainStartEndE-ValueType
Pfam:PNRC 90 139 5.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000030438
Predicted Effect probably benign
Transcript: ENSMUST00000102544
SMART Domains Protein: ENSMUSP00000099603
Gene: ENSMUSG00000028676

DomainStartEndE-ValueType
RRM 11 84 2.72e-25 SMART
low complexity region 105 157 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126641
SMART Domains Protein: ENSMUSP00000114564
Gene: ENSMUSG00000028676

DomainStartEndE-ValueType
RRM 11 84 2.72e-25 SMART
low complexity region 105 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142585
Predicted Effect probably benign
Transcript: ENSMUST00000180300
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased body weight, decreased percent body fat, resistance to diet-induced obesity, increased energy expenditure and increase heat production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 G A 8: 120,342,502 (GRCm39) R380H probably damaging Het
Akr1c12 C A 13: 4,325,767 (GRCm39) D109Y possibly damaging Het
Cacna1s A T 1: 136,033,582 (GRCm39) M1020L possibly damaging Het
Cbx8 C A 11: 118,931,213 (GRCm39) R25L possibly damaging Het
Ccdc87 A G 19: 4,891,407 (GRCm39) Y633C probably benign Het
Col4a4 C T 1: 82,484,752 (GRCm39) S505N unknown Het
Cr2 T A 1: 194,839,810 (GRCm39) H539L probably damaging Het
Cyp2b9 T A 7: 25,872,999 (GRCm39) D47E probably benign Het
Dnah3 A C 7: 119,608,607 (GRCm39) M1784R probably damaging Het
Dnah8 T A 17: 30,966,828 (GRCm39) L2520* probably null Het
E2f2 A G 4: 135,905,796 (GRCm39) E103G possibly damaging Het
Eef1akmt3 T A 10: 126,868,877 (GRCm39) H199L possibly damaging Het
Faxc A T 4: 21,993,376 (GRCm39) N340I possibly damaging Het
Fer1l6 A T 15: 58,497,026 (GRCm39) R1199* probably null Het
Fer1l6 A G 15: 58,509,855 (GRCm39) D1439G probably damaging Het
Galnt5 G T 2: 57,925,261 (GRCm39) W847C probably damaging Het
Gbp2 G A 3: 142,337,793 (GRCm39) S303N probably benign Het
Glipr1l1 A T 10: 111,896,332 (GRCm39) K40* probably null Het
Gm4353 A C 7: 115,683,134 (GRCm39) L149R possibly damaging Het
Grk5 A G 19: 61,078,380 (GRCm39) D479G probably damaging Het
Gzmc T A 14: 56,471,486 (GRCm39) probably null Het
Hace1 T C 10: 45,524,986 (GRCm39) Y251H probably benign Het
Hhla1 G T 15: 65,813,646 (GRCm39) P229T probably damaging Het
Hspa1l C T 17: 35,196,428 (GRCm39) Q156* probably null Het
Igkv4-78 A T 6: 69,036,683 (GRCm39) Y117N probably benign Het
Ikzf3 C A 11: 98,357,879 (GRCm39) R486L probably damaging Het
Itpr1 C T 6: 108,355,164 (GRCm39) T485M possibly damaging Het
Kcnab3 T C 11: 69,219,401 (GRCm39) Y131H probably benign Het
Kcnu1 C T 8: 26,422,362 (GRCm39) P209L probably benign Het
Klk1b8 T A 7: 43,448,094 (GRCm39) C39* probably null Het
Mbtps1 A G 8: 120,255,700 (GRCm39) L519P probably damaging Het
Mgat4a A G 1: 37,495,673 (GRCm39) I287T probably damaging Het
Mindy2 T C 9: 70,512,480 (GRCm39) E590G possibly damaging Het
Mllt11 G T 3: 95,127,602 (GRCm39) T56K probably benign Het
Myo5b G A 18: 74,875,249 (GRCm39) R1551H probably damaging Het
Nmrk2 T C 10: 81,036,796 (GRCm39) T16A possibly damaging Het
Or2ab1 T A 11: 58,488,831 (GRCm39) F203Y probably damaging Het
Or7e170 G T 9: 19,795,365 (GRCm39) P79T probably damaging Het
Osbpl9 T C 4: 109,013,899 (GRCm39) D65G probably damaging Het
Phf2 T A 13: 48,957,131 (GRCm39) K1079* probably null Het
Plcb1 A G 2: 135,212,486 (GRCm39) S1026G possibly damaging Het
Ppfia2 A T 10: 106,749,455 (GRCm39) I1114F probably damaging Het
Rpl12 G A 2: 32,853,000 (GRCm39) E72K probably benign Het
Sbf1 C T 15: 89,177,679 (GRCm39) R1642H probably benign Het
Sephs2 G A 7: 126,873,118 (GRCm39) probably benign Het
Slc35c2 A T 2: 165,122,617 (GRCm39) L194H probably damaging Het
Slfn4 T A 11: 83,079,938 (GRCm39) Y150N probably damaging Het
Srbd1 T C 17: 86,292,723 (GRCm39) R949G probably damaging Het
Urah T A 7: 140,415,618 (GRCm39) S28T probably damaging Het
Wdr62 A G 7: 29,941,860 (GRCm39) S649P probably damaging Het
Wnk1 C A 6: 119,929,728 (GRCm39) G1263V probably damaging Het
Zbtb4 C A 11: 69,669,069 (GRCm39) D114E possibly damaging Het
Predicted Primers PCR Primer
(F):5'- CTTCAGAAGTTGTGTGTTAACCC -3'
(R):5'- TGGGTACAATCCAGCAGCAG -3'

Sequencing Primer
(F):5'- AGAAGTTGTGTGTTAACCCATAAATC -3'
(R):5'- TCCAGCAGCAGCAGCATG -3'
Posted On 2018-02-28