Incidental Mutation 'R8057:H2-K2'
ID 619488
Institutional Source Beutler Lab
Gene Symbol H2-K2
Ensembl Gene ENSMUSG00000067203
Gene Name histocompatibility 2, K region locus 2
Synonyms H2-K1, H-2K2, H-2K1K, H-2K1
MMRRC Submission 067494-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R8057 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34194050-34197764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34215833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 336 (G336D)
Ref Sequence ENSEMBL: ENSMUSP00000025181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025181] [ENSMUST00000087189] [ENSMUST00000172912] [ENSMUST00000173075]
AlphaFold no structure available at present
PDB Structure MURINE CD8AA ECTODOMAIN FRAGMENT IN COMPLEX WITH H-2KB/VSV8 [X-RAY DIFFRACTION]
MURINE ALLOREACTIVE SCFV TCR-PEPTIDE-MHC CLASS I MOLECULE COMPLEX [X-RAY DIFFRACTION]
MHC CLASS I NATURAL MUTANT H-2KBM1 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND VESICULAR STOMATITIS VIRUS NUCLEOPROTEIN [X-RAY DIFFRACTION]
MHC CLASS I NATURAL MUTANT H-2KBM1 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND SENDAI VIRUS NUCLEOPROTEIN [X-RAY DIFFRACTION]
MHC CLASS I NATURAL MUTANT H-2KBM8 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND VESICULAR STOMATITIS VIRUS NUCLEOPROTEIN [X-RAY DIFFRACTION]
MHC CLASS I NATURAL MUTANT H-2KBM8 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND SENDAI VIRUS NUCLEOPROTEIN [X-RAY DIFFRACTION]
A FUNCTIONAL HOT SPOT FOR ANTIGEN RECOGNITION IN A SUPERAGONIST TCR/MHC COMPLEX [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MHC CLASS I H-2KB HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND YEAST ALPHA-GLUCOSIDASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MHC CLASS I H-2KB HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND MUC1 VNTR PEPTIDE SAPDTRPA [X-RAY DIFFRACTION]
MHC Class I H-2KB Presented Glycopeptide RGY8-6H-GAL2 [X-RAY DIFFRACTION]
>> 62 additional structures at PDB <<
Predicted Effect possibly damaging
Transcript: ENSMUST00000025181
AA Change: G336D

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025181
Gene: ENSMUSG00000061232
AA Change: G336D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 1.4e-95 PFAM
IGc1 219 290 9.98e-22 SMART
transmembrane domain 306 328 N/A INTRINSIC
Pfam:MHC_I_C 335 359 2.3e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000087189
AA Change: G154D

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084436
Gene: ENSMUSG00000061232
AA Change: G154D

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
IGc1 37 108 9.98e-22 SMART
low complexity region 124 143 N/A INTRINSIC
Pfam:MHC_I_C 152 177 5.9e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172912
AA Change: G336D

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134004
Gene: ENSMUSG00000061232
AA Change: G336D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 6.7e-97 PFAM
IGc1 219 290 9.98e-22 SMART
transmembrane domain 306 328 N/A INTRINSIC
Pfam:MHC_I_C 334 359 9.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173075
SMART Domains Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 42 220 3.7e-97 PFAM
Pfam:C1-set 229 289 4.2e-12 PFAM
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,826 (GRCm39) L32P probably damaging Het
4930563M21Rik T C 9: 55,916,564 (GRCm39) T38A unknown Het
Abcb6 T C 1: 75,151,002 (GRCm39) N563D probably damaging Het
Ak4 T C 4: 101,317,850 (GRCm39) F140S probably damaging Het
Arhgap27 T A 11: 103,229,519 (GRCm39) R296S probably damaging Het
Atxn7l1 A C 12: 33,376,001 (GRCm39) K98N probably damaging Het
Bex6 G T 16: 32,005,224 (GRCm39) D11Y probably damaging Het
Camta1 T C 4: 151,228,489 (GRCm39) D781G probably damaging Het
Capn7 A G 14: 31,092,936 (GRCm39) D800G probably benign Het
Carmil2 G A 8: 106,419,008 (GRCm39) V716I probably benign Het
Cdk5 C A 5: 24,625,782 (GRCm39) D144Y probably damaging Het
Cep85 T C 4: 133,880,925 (GRCm39) probably benign Het
Chd5 T A 4: 152,450,829 (GRCm39) L651Q probably damaging Het
Cimap1d T A 10: 79,475,835 (GRCm39) H243L probably damaging Het
Clcn7 C T 17: 25,368,233 (GRCm39) Q261* probably null Het
Cntnap2 T A 6: 46,324,079 (GRCm39) F576Y probably damaging Het
Col11a1 G A 3: 113,925,263 (GRCm39) G815D unknown Het
Col4a4 T A 1: 82,501,591 (GRCm39) R387S unknown Het
Cse1l T A 2: 166,781,845 (GRCm39) V663D probably damaging Het
Csf2rb2 G T 15: 78,169,206 (GRCm39) Q650K probably damaging Het
Ctnnd2 A G 15: 30,847,497 (GRCm39) D696G possibly damaging Het
Dnah7c T A 1: 46,728,112 (GRCm39) C2937S possibly damaging Het
Epha10 A T 4: 124,796,476 (GRCm39) Q395L Het
Fam167a T A 14: 63,689,769 (GRCm39) V22E probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gabra4 A G 5: 71,781,295 (GRCm39) I372T probably benign Het
Gpt A G 15: 76,580,972 (GRCm39) probably benign Het
Hapstr1 C T 16: 8,648,232 (GRCm39) probably benign Het
Hoxd8 T C 2: 74,535,070 (GRCm39) probably null Het
Ilrun C T 17: 27,986,863 (GRCm39) A288T unknown Het
Kdm5d T G Y: 927,355 (GRCm39) D658E possibly damaging Het
Krt25 G A 11: 99,208,169 (GRCm39) T353M probably benign Het
Lonp2 T C 8: 87,440,717 (GRCm39) L778P probably damaging Het
Lrrc66 G A 5: 73,764,875 (GRCm39) Q723* probably null Het
Mak T A 13: 41,202,813 (GRCm39) I212F probably damaging Het
Mastl T A 2: 23,023,566 (GRCm39) R386W possibly damaging Het
Mis18bp1 A G 12: 65,195,673 (GRCm39) I697T possibly damaging Het
Nek5 G A 8: 22,578,922 (GRCm39) T415I probably benign Het
Neu3 T A 7: 99,463,435 (GRCm39) N96I probably benign Het
Nxph2 T C 2: 23,290,107 (GRCm39) V153A possibly damaging Het
Or10a3 A T 7: 108,480,571 (GRCm39) F81I probably damaging Het
Or5b102 G A 19: 13,040,638 (GRCm39) probably benign Het
Or8b4 A G 9: 37,830,460 (GRCm39) D169G probably benign Het
Otogl T C 10: 107,644,476 (GRCm39) T1257A probably benign Het
Pcdh10 G A 3: 45,333,694 (GRCm39) V3M probably benign Het
Pitpnm1 G A 19: 4,162,145 (GRCm39) R1017Q probably null Het
Plcb3 A C 19: 6,932,463 (GRCm39) H1065Q probably benign Het
Plcb3 A T 19: 6,936,267 (GRCm39) M752K probably damaging Het
Plch1 T C 3: 63,605,557 (GRCm39) E1449G probably benign Het
Plekha4 T A 7: 45,198,695 (GRCm39) C573S probably benign Het
Plin2 T C 4: 86,575,638 (GRCm39) I304V possibly damaging Het
Pnp2 G A 14: 51,201,838 (GRCm39) V275I probably benign Het
Polr1a G A 6: 71,908,644 (GRCm39) A490T possibly damaging Het
Ppp1r12b A G 1: 134,883,354 (GRCm39) F56S probably damaging Het
Ptk2 GA G 15: 73,170,048 (GRCm39) probably null Het
Rb1cc1 C A 1: 6,315,443 (GRCm39) R473S probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rdx T C 9: 51,976,946 (GRCm39) V65A probably damaging Het
Rpl27rt T C 18: 34,870,582 (GRCm39) F39L probably damaging Het
Rps6ka5 A G 12: 100,540,055 (GRCm39) probably null Het
Samd5 C T 10: 9,550,641 (GRCm39) V23M probably damaging Het
Scn9a T G 2: 66,345,774 (GRCm39) R1117S probably benign Het
Scrn1 T A 6: 54,497,758 (GRCm39) I278L probably benign Het
Sec31b G T 19: 44,507,804 (GRCm39) P747T probably damaging Het
Sipa1l2 A T 8: 126,195,269 (GRCm39) V823E probably damaging Het
Slc2a13 T C 15: 91,400,619 (GRCm39) N201S probably damaging Het
Slc30a3 C A 5: 31,247,395 (GRCm39) probably benign Het
Snx31 C A 15: 36,523,606 (GRCm39) V359F probably damaging Het
Sstr2 A G 11: 113,515,099 (GRCm39) E6G probably benign Het
Stc2 C A 11: 31,317,806 (GRCm39) E72* probably null Het
Tead1 C T 7: 112,358,721 (GRCm39) P11L probably benign Het
Tmem51 T C 4: 141,759,059 (GRCm39) T230A probably damaging Het
Tmem63c A T 12: 87,118,972 (GRCm39) K301* probably null Het
Tns3 G C 11: 8,442,773 (GRCm39) A530G probably benign Het
Trat1 T C 16: 48,562,600 (GRCm39) D70G probably damaging Het
Trex1 T A 9: 108,887,397 (GRCm39) E198V probably damaging Het
Ttn T G 2: 76,570,072 (GRCm39) R26940S probably damaging Het
Uba2 T C 7: 33,867,835 (GRCm39) K34R possibly damaging Het
Vps13d A C 4: 144,701,753 (GRCm39) M4376R Het
Zfp157 C A 5: 138,454,336 (GRCm39) T178K probably damaging Het
Zfp318 T A 17: 46,710,692 (GRCm39) V805D possibly damaging Het
Other mutations in H2-K2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02189:H2-K2 APN 17 34,218,466 (GRCm39) missense probably damaging 1.00
FR4548:H2-K2 UTSW 17 34,216,016 (GRCm39) unclassified probably benign
FR4976:H2-K2 UTSW 17 34,216,016 (GRCm39) unclassified probably benign
R0254:H2-K2 UTSW 17 34,215,639 (GRCm39) unclassified probably benign
R0520:H2-K2 UTSW 17 34,216,390 (GRCm39) missense probably damaging 1.00
R0540:H2-K2 UTSW 17 34,218,474 (GRCm39) missense probably damaging 1.00
R0607:H2-K2 UTSW 17 34,218,474 (GRCm39) missense probably damaging 1.00
R0718:H2-K2 UTSW 17 34,194,597 (GRCm39) splice site noncoding transcript
R1282:H2-K2 UTSW 17 34,218,421 (GRCm39) missense probably damaging 1.00
R1785:H2-K2 UTSW 17 34,216,322 (GRCm39) nonsense probably null
R2307:H2-K2 UTSW 17 34,216,113 (GRCm39) missense probably benign 0.26
R3791:H2-K2 UTSW 17 34,218,499 (GRCm39) missense probably benign 0.02
R3847:H2-K2 UTSW 17 34,216,303 (GRCm39) missense probably damaging 1.00
R4008:H2-K2 UTSW 17 34,218,525 (GRCm39) splice site probably benign
R4324:H2-K2 UTSW 17 34,219,014 (GRCm39) missense possibly damaging 0.76
R4470:H2-K2 UTSW 17 34,219,035 (GRCm39) missense probably benign 0.20
R4543:H2-K2 UTSW 17 34,218,532 (GRCm39) splice site probably null
R4647:H2-K2 UTSW 17 34,194,989 (GRCm39) splice site noncoding transcript
R4648:H2-K2 UTSW 17 34,194,989 (GRCm39) splice site noncoding transcript
R4858:H2-K2 UTSW 17 34,216,298 (GRCm39) missense probably benign 0.05
R4921:H2-K2 UTSW 17 34,216,050 (GRCm39) missense possibly damaging 0.65
R5254:H2-K2 UTSW 17 34,216,436 (GRCm39) missense probably damaging 1.00
R5269:H2-K2 UTSW 17 34,215,989 (GRCm39) unclassified probably benign
R6058:H2-K2 UTSW 17 34,218,305 (GRCm39) missense probably benign
R6058:H2-K2 UTSW 17 34,218,304 (GRCm39) missense probably benign 0.02
R7941:H2-K2 UTSW 17 34,218,305 (GRCm39) missense probably benign
R8938:H2-K2 UTSW 17 34,216,294 (GRCm39) missense probably damaging 1.00
R9355:H2-K2 UTSW 17 34,216,120 (GRCm39) missense probably benign 0.01
R9625:H2-K2 UTSW 17 34,218,975 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGGGAGCCTAGGGTAAAAC -3'
(R):5'- GCAATAGTCACTGGAGCTGTG -3'

Sequencing Primer
(F):5'- TCTGGGAGCCTAGGGTAAAACAAAAC -3'
(R):5'- CACTGGAGCTGTGGTGGC -3'
Posted On 2020-01-23