Incidental Mutation 'R2130:Qrich2'
ID 227980
Institutional Source Beutler Lab
Gene Symbol Qrich2
Ensembl Gene ENSMUSG00000070331
Gene Name glutamine rich 2
Synonyms LOC217341
MMRRC Submission 040133-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2130 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 116332151-116357067 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 116339243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093909] [ENSMUST00000208602]
AlphaFold Q3V2A7
Predicted Effect probably benign
Transcript: ENSMUST00000093909
SMART Domains Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
Pfam:DUF4795 97 304 3.7e-71 PFAM
low complexity region 471 491 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134182
SMART Domains Protein: ENSMUSP00000115947
Gene: ENSMUSG00000070331

DomainStartEndE-ValueType
Blast:MYSc 1 287 4e-80 BLAST
coiled coil region 336 351 N/A INTRINSIC
low complexity region 602 622 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140697
Predicted Effect probably benign
Transcript: ENSMUST00000208602
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 94% (94/100)
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,553,223 (GRCm39) N178I probably damaging Het
Aadacl2fm3 T C 3: 59,772,769 (GRCm39) V91A probably damaging Het
Adgrl2 T C 3: 148,596,124 (GRCm39) I71V probably damaging Het
Adgrv1 T C 13: 81,729,846 (GRCm39) T212A possibly damaging Het
Aopep T A 13: 63,357,963 (GRCm39) C656S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Apaf1 A T 10: 90,896,027 (GRCm39) Y348* probably null Het
Apobr A G 7: 126,186,378 (GRCm39) T630A probably benign Het
Arhgap23 A G 11: 97,342,387 (GRCm39) D223G possibly damaging Het
Asic1 A T 15: 99,569,756 (GRCm39) T26S possibly damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
Atrnl1 G A 19: 57,643,426 (GRCm39) G438D probably damaging Het
Bbc3 T C 7: 16,046,268 (GRCm39) V68A possibly damaging Het
Birc6 T C 17: 74,966,149 (GRCm39) probably benign Het
Btnl9 A G 11: 49,071,523 (GRCm39) F100S probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccpg1 A G 9: 72,920,440 (GRCm39) N685S probably damaging Het
Ces3b T A 8: 105,819,607 (GRCm39) probably null Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clhc1 A G 11: 29,507,663 (GRCm39) I126V probably benign Het
Crocc T C 4: 140,756,413 (GRCm39) I1071V probably benign Het
Dbt T A 3: 116,332,773 (GRCm39) D16E probably damaging Het
Dnajc8 T C 4: 132,271,370 (GRCm39) S62P possibly damaging Het
Dpyd T C 3: 118,468,217 (GRCm39) V77A probably benign Het
Dram2 T A 3: 106,478,076 (GRCm39) M136K possibly damaging Het
Dtx2 T A 5: 136,040,894 (GRCm39) F100I probably damaging Het
Dync2h1 A T 9: 7,011,253 (GRCm39) W3654R probably damaging Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fgf17 T C 14: 70,875,927 (GRCm39) R102G probably damaging Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm6578 C A 6: 12,100,186 (GRCm39) noncoding transcript Het
Gm8374 T C 14: 18,537,078 (GRCm39) T49A probably damaging Het
Gm9797 G T 10: 11,485,113 (GRCm39) noncoding transcript Het
Golga3 T C 5: 110,350,805 (GRCm39) probably null Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Isoc2b A T 7: 4,854,438 (GRCm39) I31N probably damaging Het
Kif5c T A 2: 49,648,817 (GRCm39) probably benign Het
Krtap16-1 A T 11: 99,876,602 (GRCm39) C267* probably null Het
Lamc2 T A 1: 153,002,870 (GRCm39) D1037V probably damaging Het
Lhfpl2 A G 13: 94,328,557 (GRCm39) D206G possibly damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Mgat2 T C 12: 69,232,068 (GRCm39) F214S probably damaging Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Myh10 A G 11: 68,698,115 (GRCm39) probably benign Het
Myo15b G A 11: 115,762,469 (GRCm39) V1229I probably benign Het
Nfatc2ip A G 7: 125,989,634 (GRCm39) V250A probably benign Het
Niban2 A G 2: 32,813,659 (GRCm39) K624R probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Olfml3 T A 3: 103,643,185 (GRCm39) M399L probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or56a5 T A 7: 104,792,757 (GRCm39) I254F probably benign Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Psph T A 5: 129,864,603 (GRCm39) probably null Het
Ptpro A G 6: 137,388,114 (GRCm39) probably null Het
Pzp T C 6: 128,468,124 (GRCm39) probably null Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Rnf17 T C 14: 56,730,811 (GRCm39) V1205A probably damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Sgo2b T C 8: 64,380,181 (GRCm39) R884G probably benign Het
Slc10a5 G T 3: 10,400,278 (GRCm39) D127E probably benign Het
Slc25a35 T G 11: 68,859,791 (GRCm39) S101R possibly damaging Het
Slc6a13 T C 6: 121,302,000 (GRCm39) L194P possibly damaging Het
Snw1 T G 12: 87,499,473 (GRCm39) probably benign Het
Sort1 T A 3: 108,259,002 (GRCm39) F678Y probably benign Het
Srsf12 C T 4: 33,225,764 (GRCm39) probably benign Het
Ssxa1 T A X: 20,985,581 (GRCm39) probably benign Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Tacr3 T C 3: 134,637,941 (GRCm39) V366A probably benign Het
Tasor T A 14: 27,168,345 (GRCm39) Y296N probably damaging Het
Tasor A G 14: 27,198,571 (GRCm39) N1301S possibly damaging Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tkfc A G 19: 10,573,405 (GRCm39) I279T probably damaging Het
Tmem98 A G 11: 80,708,348 (GRCm39) E106G probably damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttn T C 2: 76,572,861 (GRCm39) T24265A possibly damaging Het
Usp37 A G 1: 74,500,815 (GRCm39) V582A probably damaging Het
Vps13b T A 15: 35,671,546 (GRCm39) I1683N probably benign Het
Vps13d C T 4: 144,882,671 (GRCm39) R968H probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Vwf C T 6: 125,634,020 (GRCm39) T166I probably damaging Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp459 A T 13: 67,556,395 (GRCm39) H229Q probably benign Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zmynd19 T A 2: 24,842,648 (GRCm39) Y15* probably null Het
Other mutations in Qrich2
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4449:Qrich2 UTSW 11 116,347,025 (GRCm39) small deletion probably benign
R0122:Qrich2 UTSW 11 116,337,639 (GRCm39) missense possibly damaging 0.61
R0157:Qrich2 UTSW 11 116,332,221 (GRCm39) missense probably damaging 1.00
R1479:Qrich2 UTSW 11 116,332,311 (GRCm39) missense probably benign 0.08
R1786:Qrich2 UTSW 11 116,332,275 (GRCm39) missense probably damaging 1.00
R2115:Qrich2 UTSW 11 116,337,982 (GRCm39) missense probably damaging 0.99
R2178:Qrich2 UTSW 11 116,334,603 (GRCm39) missense probably damaging 1.00
R3875:Qrich2 UTSW 11 116,336,477 (GRCm39) missense probably damaging 0.98
R4378:Qrich2 UTSW 11 116,337,741 (GRCm39) missense probably damaging 1.00
R5124:Qrich2 UTSW 11 116,337,599 (GRCm39) missense probably damaging 1.00
R5362:Qrich2 UTSW 11 116,337,976 (GRCm39) missense probably damaging 1.00
R5468:Qrich2 UTSW 11 116,339,191 (GRCm39) missense probably damaging 1.00
R5493:Qrich2 UTSW 11 116,336,774 (GRCm39) critical splice donor site probably null
R5589:Qrich2 UTSW 11 116,332,234 (GRCm39) missense probably damaging 1.00
R5696:Qrich2 UTSW 11 116,335,828 (GRCm39) missense probably damaging 1.00
R6046:Qrich2 UTSW 11 116,337,832 (GRCm39) intron probably benign
R6183:Qrich2 UTSW 11 116,348,955 (GRCm39) unclassified probably benign
R6193:Qrich2 UTSW 11 116,344,979 (GRCm39) missense probably benign 0.07
R6211:Qrich2 UTSW 11 116,344,368 (GRCm39) missense probably benign 0.41
R6375:Qrich2 UTSW 11 116,349,054 (GRCm39) unclassified probably benign
R6452:Qrich2 UTSW 11 116,346,714 (GRCm39) missense probably benign 0.01
R6870:Qrich2 UTSW 11 116,346,156 (GRCm39) missense probably damaging 0.96
R7073:Qrich2 UTSW 11 116,337,701 (GRCm39) missense probably damaging 0.98
R7552:Qrich2 UTSW 11 116,347,080 (GRCm39) missense possibly damaging 0.63
R7585:Qrich2 UTSW 11 116,346,547 (GRCm39) missense probably benign 0.00
R7586:Qrich2 UTSW 11 116,346,450 (GRCm39) missense probably benign 0.43
R7588:Qrich2 UTSW 11 116,356,763 (GRCm39) missense possibly damaging 0.53
R7633:Qrich2 UTSW 11 116,347,455 (GRCm39) missense unknown
R7638:Qrich2 UTSW 11 116,346,148 (GRCm39) missense probably benign 0.00
R7736:Qrich2 UTSW 11 116,348,367 (GRCm39) small deletion probably benign
R7737:Qrich2 UTSW 11 116,348,367 (GRCm39) small deletion probably benign
R7753:Qrich2 UTSW 11 116,347,868 (GRCm39) small deletion probably benign
R7800:Qrich2 UTSW 11 116,347,686 (GRCm39) nonsense probably null
R7833:Qrich2 UTSW 11 116,346,591 (GRCm39) missense probably benign 0.04
R7912:Qrich2 UTSW 11 116,346,608 (GRCm39) small deletion probably benign
R7923:Qrich2 UTSW 11 116,348,163 (GRCm39) missense probably damaging 1.00
R8197:Qrich2 UTSW 11 116,347,861 (GRCm39) small deletion probably benign
R8225:Qrich2 UTSW 11 116,344,894 (GRCm39) missense probably damaging 1.00
R8300:Qrich2 UTSW 11 116,347,175 (GRCm39) missense probably benign 0.04
R8391:Qrich2 UTSW 11 116,356,403 (GRCm39) missense probably benign 0.00
R8705:Qrich2 UTSW 11 116,348,367 (GRCm39) small deletion probably benign
R8792:Qrich2 UTSW 11 116,347,456 (GRCm39) missense unknown
R8912:Qrich2 UTSW 11 116,348,367 (GRCm39) small deletion probably benign
R9025:Qrich2 UTSW 11 116,348,367 (GRCm39) small deletion probably benign
R9121:Qrich2 UTSW 11 116,347,272 (GRCm39) missense unknown
R9130:Qrich2 UTSW 11 116,347,692 (GRCm39) nonsense probably null
R9219:Qrich2 UTSW 11 116,335,900 (GRCm39) missense possibly damaging 0.47
R9254:Qrich2 UTSW 11 116,348,934 (GRCm39) missense unknown
R9256:Qrich2 UTSW 11 116,356,450 (GRCm39) missense probably benign 0.10
R9288:Qrich2 UTSW 11 116,348,367 (GRCm39) small deletion probably benign
R9379:Qrich2 UTSW 11 116,348,934 (GRCm39) missense unknown
R9448:Qrich2 UTSW 11 116,338,091 (GRCm39) missense probably benign 0.01
R9521:Qrich2 UTSW 11 116,339,208 (GRCm39) missense probably damaging 1.00
R9620:Qrich2 UTSW 11 116,337,946 (GRCm39) missense probably damaging 1.00
R9631:Qrich2 UTSW 11 116,348,367 (GRCm39) small deletion probably benign
R9639:Qrich2 UTSW 11 116,346,924 (GRCm39) missense probably benign 0.00
R9694:Qrich2 UTSW 11 116,337,946 (GRCm39) missense probably damaging 1.00
Z1176:Qrich2 UTSW 11 116,347,204 (GRCm39) missense probably benign 0.00
Z1177:Qrich2 UTSW 11 116,347,494 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTGACTTGGTGGCTCACATC -3'
(R):5'- TAACCCAATGGAGTTCCCCTC -3'

Sequencing Primer
(F):5'- TTGGTGGCTCACATCCAGACTG -3'
(R):5'- GGTACTTGAAAAACCATGTGCTG -3'
Posted On 2014-09-17