Incidental Mutation 'R0078:H2-T22'
ID 19578
Institutional Source Beutler Lab
Gene Symbol H2-T22
Ensembl Gene ENSMUSG00000056116
Gene Name histocompatibility 2, T region locus 22
Synonyms H2-T17, H-2T17, H-2T22
MMRRC Submission 038365-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R0078 (G1)
Quality Score 189
Status Validated
Chromosome 17
Chromosomal Location 36348020-36353634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36351501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 243 (V243A)
Ref Sequence ENSEMBL: ENSMUSP00000078927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058801] [ENSMUST00000077960] [ENSMUST00000080015] [ENSMUST00000097331] [ENSMUST00000173280]
AlphaFold Q31615
Predicted Effect probably damaging
Transcript: ENSMUST00000058801
AA Change: V243A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056041
Gene: ENSMUSG00000056116
AA Change: V243A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 5.8e-47 PFAM
IGc1 210 281 2.06e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077960
AA Change: V243A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077111
Gene: ENSMUSG00000056116
AA Change: V243A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 4e-47 PFAM
IGc1 210 281 2.06e-23 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000080015
AA Change: V243A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078927
Gene: ENSMUSG00000056116
AA Change: V243A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 7.3e-47 PFAM
IGc1 210 281 2.06e-23 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097331
SMART Domains Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172633
Predicted Effect probably benign
Transcript: ENSMUST00000173280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173900
Meta Mutation Damage Score 0.3273 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency 81% (203/250)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,891,129 (GRCm39) Q456L probably benign Het
Abcf1 A G 17: 36,268,954 (GRCm39) probably benign Het
Adamts7 A T 9: 90,061,464 (GRCm39) S357C probably damaging Het
Ankrd26 A G 6: 118,512,030 (GRCm39) probably benign Het
Asb17 T A 3: 153,550,301 (GRCm39) V111E probably damaging Het
C1qtnf4 C A 2: 90,719,893 (GRCm39) N55K probably damaging Het
Cacng5 G T 11: 107,768,259 (GRCm39) D249E probably benign Het
Camkk2 C A 5: 122,895,622 (GRCm39) probably null Het
Ccdc27 T G 4: 154,120,195 (GRCm39) probably benign Het
Cfap251 G A 5: 123,436,633 (GRCm39) R1054H probably benign Het
Cngb1 T A 8: 95,991,173 (GRCm39) probably null Het
Col7a1 A G 9: 108,803,981 (GRCm39) probably benign Het
Corin T A 5: 72,611,816 (GRCm39) D148V possibly damaging Het
Cstdc1 T A 2: 148,627,745 (GRCm39) *131K probably null Het
Defb26 A C 2: 152,349,988 (GRCm39) D97E possibly damaging Het
Dgkb A G 12: 38,186,540 (GRCm39) N237D probably benign Het
Dsp A G 13: 38,379,993 (GRCm39) N1647S probably benign Het
Dtna G A 18: 23,754,499 (GRCm39) A438T probably damaging Het
Erbb3 G T 10: 128,419,310 (GRCm39) F219L probably damaging Het
EU599041 G A 7: 42,875,275 (GRCm39) noncoding transcript Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Fat4 T C 3: 38,943,080 (GRCm39) S658P probably benign Het
Fgfr2 C T 7: 129,802,805 (GRCm39) D168N possibly damaging Het
Fstl5 T A 3: 76,566,952 (GRCm39) probably benign Het
Glmn C T 5: 107,705,836 (GRCm39) V451I probably benign Het
Gm9938 T A 19: 23,701,988 (GRCm39) probably benign Het
Gpat2 T C 2: 127,270,169 (GRCm39) S61P probably damaging Het
Gpr22 T A 12: 31,761,640 (GRCm39) M6L probably benign Het
Grm5 T C 7: 87,724,185 (GRCm39) L825P probably damaging Het
Gstz1 A T 12: 87,206,477 (GRCm39) I66F probably benign Het
H2-T5 A T 17: 36,476,353 (GRCm39) S304T possibly damaging Het
Hivep1 C T 13: 42,309,517 (GRCm39) L586F probably damaging Het
Hmcn2 T G 2: 31,278,356 (GRCm39) L1686R probably damaging Het
Ice1 T C 13: 70,751,467 (GRCm39) R1540G probably damaging Het
Igha T A 12: 113,223,547 (GRCm39) probably benign Het
Kif3a C A 11: 53,469,812 (GRCm39) T141K probably benign Het
Knl1 G A 2: 118,900,373 (GRCm39) M691I probably benign Het
L3mbtl1 T C 2: 162,789,146 (GRCm39) V13A probably benign Het
Lamc1 T A 1: 153,104,936 (GRCm39) N1282I probably damaging Het
Lemd2 G T 17: 27,422,702 (GRCm39) L231I probably benign Het
Lrrk2 G A 15: 91,618,212 (GRCm39) V904M probably benign Het
Lyzl6 C T 11: 103,524,795 (GRCm39) S103N probably benign Het
Macf1 T A 4: 123,367,661 (GRCm39) R2367W probably damaging Het
Mapk3 T C 7: 126,358,977 (GRCm39) Y54H probably damaging Het
Mlh3 A T 12: 85,315,592 (GRCm39) V198D probably damaging Het
Myocd T C 11: 65,078,290 (GRCm39) S374G possibly damaging Het
Ngef T C 1: 87,468,387 (GRCm39) E124G probably benign Het
Nhsl3 T C 4: 129,121,516 (GRCm39) probably null Het
Nr4a2 T C 2: 57,002,240 (GRCm39) Y8C probably damaging Het
Nynrin T A 14: 56,100,789 (GRCm39) V193D probably damaging Het
Or10ak9 T A 4: 118,726,424 (GRCm39) S148T probably benign Het
Or10w1 G T 19: 13,632,179 (GRCm39) V129F probably benign Het
Or1p1 A T 11: 74,180,092 (GRCm39) I207F probably damaging Het
Or4k36 A T 2: 111,146,249 (GRCm39) I142F probably benign Het
Or6d15 A G 6: 116,559,701 (GRCm39) S69P probably damaging Het
Pcdh18 T C 3: 49,710,793 (GRCm39) Y174C probably damaging Het
Pcf11 T C 7: 92,318,767 (GRCm39) D21G possibly damaging Het
Pdia4 A C 6: 47,775,344 (GRCm39) F489V possibly damaging Het
Pitrm1 C T 13: 6,625,068 (GRCm39) P849S probably damaging Het
Plcz1 T C 6: 139,935,510 (GRCm39) Y644C probably damaging Het
Ppp5c T C 7: 16,761,650 (GRCm39) E28G probably benign Het
Prkcb A G 7: 122,189,393 (GRCm39) Y507C probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Scarf1 A G 11: 75,405,988 (GRCm39) probably benign Het
Scoc T A 8: 84,184,887 (GRCm39) probably null Het
Sh2d4a A T 8: 68,734,973 (GRCm39) M31L probably damaging Het
Spta1 T A 1: 174,034,598 (GRCm39) probably benign Het
Stard7 A G 2: 127,134,127 (GRCm39) Y270C probably damaging Het
Svs3b T C 2: 164,097,881 (GRCm39) T147A probably benign Het
Tmtc3 A G 10: 100,284,823 (GRCm39) L604P probably damaging Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Trpm8 C A 1: 88,255,870 (GRCm39) probably benign Het
Tspan9 T C 6: 127,943,448 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,468,643 (GRCm39) R713C probably damaging Het
Tyro3 A T 2: 119,647,487 (GRCm39) Q872L probably damaging Het
Vmn1r204 G A 13: 22,740,379 (GRCm39) M3I probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdfy3 A G 5: 102,035,971 (GRCm39) I2149T possibly damaging Het
Zfp668 A T 7: 127,467,210 (GRCm39) M122K possibly damaging Het
Zkscan1 A T 5: 138,091,363 (GRCm39) D32V probably damaging Het
Other mutations in H2-T22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:H2-T22 APN 17 36,352,811 (GRCm39) missense probably damaging 0.99
IGL02978:H2-T22 APN 17 36,352,517 (GRCm39) missense probably benign 0.00
R0448:H2-T22 UTSW 17 36,353,278 (GRCm39) missense possibly damaging 0.96
R1402:H2-T22 UTSW 17 36,351,161 (GRCm39) missense possibly damaging 0.95
R1402:H2-T22 UTSW 17 36,351,161 (GRCm39) missense possibly damaging 0.95
R1592:H2-T22 UTSW 17 36,352,469 (GRCm39) missense probably damaging 0.99
R1830:H2-T22 UTSW 17 36,352,434 (GRCm39) missense probably benign 0.00
R2105:H2-T22 UTSW 17 36,351,409 (GRCm39) missense probably benign 0.23
R2116:H2-T22 UTSW 17 36,349,949 (GRCm39) splice site probably null
R2964:H2-T22 UTSW 17 36,351,537 (GRCm39) missense probably damaging 1.00
R2965:H2-T22 UTSW 17 36,351,537 (GRCm39) missense probably damaging 1.00
R3425:H2-T22 UTSW 17 36,352,472 (GRCm39) missense probably damaging 1.00
R3875:H2-T22 UTSW 17 36,351,195 (GRCm39) missense probably benign 0.03
R4614:H2-T22 UTSW 17 36,351,429 (GRCm39) missense probably benign 0.28
R4691:H2-T22 UTSW 17 36,352,462 (GRCm39) frame shift probably null
R4870:H2-T22 UTSW 17 36,349,924 (GRCm39) missense probably benign 0.00
R4954:H2-T22 UTSW 17 36,352,851 (GRCm39) missense probably damaging 1.00
R5109:H2-T22 UTSW 17 36,350,113 (GRCm39) nonsense probably null
R5995:H2-T22 UTSW 17 36,352,377 (GRCm39) missense probably benign 0.18
R7379:H2-T22 UTSW 17 36,353,232 (GRCm39) critical splice donor site probably null
R7597:H2-T22 UTSW 17 36,351,408 (GRCm39) missense probably damaging 1.00
R8719:H2-T22 UTSW 17 36,352,835 (GRCm39) missense probably benign 0.04
R8861:H2-T22 UTSW 17 36,353,290 (GRCm39) missense possibly damaging 0.86
R9661:H2-T22 UTSW 17 36,353,371 (GRCm39) start gained probably benign
Z1088:H2-T22 UTSW 17 36,352,530 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGACCATTCATCTCTCAGCCCTGAC -3'
(R):5'- AGCACGATGCCTCATCCTTTCAAC -3'

Sequencing Primer
(F):5'- CCAGCTCAGGGTCTACAGAAG -3'
(R):5'- AACTCTCTCCCTCAGACCC -3'
Posted On 2013-04-11