Incidental Mutation 'R5302:H2-Q2'
ID 404320
Institutional Source Beutler Lab
Gene Symbol H2-Q2
Ensembl Gene ENSMUSG00000091705
Gene Name histocompatibility 2, Q region locus 2
Synonyms Gm11132, H-2Q2
MMRRC Submission 042885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5302 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35561283-35565740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 35563885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 255 (R255S)
Ref Sequence ENSEMBL: ENSMUSP00000078138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074806]
AlphaFold Q4KN81
Predicted Effect probably damaging
Transcript: ENSMUST00000074806
AA Change: R255S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: R255S

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:MHC_I 22 200 2.4e-90 PFAM
IGc1 219 290 4.05e-22 SMART
low complexity region 306 325 N/A INTRINSIC
Pfam:MHC_I_C 334 358 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173115
SMART Domains Protein: ENSMUSP00000133989
Gene: ENSMUSG00000091705

DomainStartEndE-ValueType
SCOP:d1hdma1 2 19 5e-6 SMART
low complexity region 22 41 N/A INTRINSIC
Pfam:MHC_I_C 50 74 1.5e-10 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D possibly damaging Het
Other mutations in H2-Q2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:H2-Q2 APN 17 35,561,825 (GRCm39) missense probably damaging 1.00
IGL01148:H2-Q2 APN 17 35,561,654 (GRCm39) missense probably damaging 1.00
IGL02081:H2-Q2 APN 17 35,561,684 (GRCm39) missense probably damaging 1.00
IGL03406:H2-Q2 APN 17 35,561,801 (GRCm39) missense probably benign 0.01
R0145:H2-Q2 UTSW 17 35,564,152 (GRCm39) missense probably benign 0.24
R0646:H2-Q2 UTSW 17 35,564,661 (GRCm39) missense probably damaging 1.00
R1889:H2-Q2 UTSW 17 35,564,152 (GRCm39) missense probably benign 0.24
R2055:H2-Q2 UTSW 17 35,564,247 (GRCm39) missense probably benign 0.00
R2152:H2-Q2 UTSW 17 35,564,252 (GRCm39) critical splice donor site probably null
R3898:H2-Q2 UTSW 17 35,561,743 (GRCm39) missense probably damaging 1.00
R4710:H2-Q2 UTSW 17 35,562,278 (GRCm39) missense probably damaging 1.00
R5267:H2-Q2 UTSW 17 35,562,155 (GRCm39) missense probably benign 0.21
R6134:H2-Q2 UTSW 17 35,562,217 (GRCm39) missense probably damaging 0.98
R6453:H2-Q2 UTSW 17 35,563,871 (GRCm39) missense probably benign 0.07
R6633:H2-Q2 UTSW 17 35,561,363 (GRCm39) missense probably damaging 0.98
R6979:H2-Q2 UTSW 17 35,564,623 (GRCm39) splice site probably null
R8248:H2-Q2 UTSW 17 35,563,841 (GRCm39) missense probably benign
R8306:H2-Q2 UTSW 17 35,561,301 (GRCm39) unclassified probably benign
R8714:H2-Q2 UTSW 17 35,562,338 (GRCm39) missense possibly damaging 0.92
R9640:H2-Q2 UTSW 17 35,562,206 (GRCm39) missense probably damaging 1.00
Z1176:H2-Q2 UTSW 17 35,564,651 (GRCm39) missense probably damaging 1.00
Z1177:H2-Q2 UTSW 17 35,561,318 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGACAGTTGTAGTGTCAAACAGAC -3'
(R):5'- GCAAAAGGCTCCAGCTTTCC -3'

Sequencing Primer
(F):5'- TCACTGTCATCATTGATTTAACTGAG -3'
(R):5'- AAAGGCTCCAGCTTTCCCTGAC -3'
Posted On 2016-07-22