Incidental Mutation 'R5696:Qrich2'
ID 450690
Institutional Source Beutler Lab
Gene Symbol Qrich2
Ensembl Gene ENSMUSG00000070331
Gene Name glutamine rich 2
Synonyms LOC217341
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116332151-116357067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116335828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 2114 (I2114V)
Ref Sequence ENSEMBL: ENSMUSP00000147009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093909] [ENSMUST00000208602]
AlphaFold Q3V2A7
Predicted Effect probably damaging
Transcript: ENSMUST00000093909
AA Change: I369V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
AA Change: I369V

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 damaging
Transcript: ENSMUST00000208602
AA Change: I2114V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging 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
R2130:Qrich2 UTSW 11 116,339,243 (GRCm39) splice site probably benign
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
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'- CATCACTTTGAGCCACCCAG -3'
(R):5'- TAAAGCCCACAAGGTCCTGC -3'

Sequencing Primer
(F):5'- TTTGAGCCACCCAGGAGTGTTAC -3'
(R):5'- GGGCTGACCTCTTTCCTCACG -3'
Posted On 2017-01-03