Incidental Mutation 'R5425:H2-T5'
ID 426848
Institutional Source Beutler Lab
Gene Symbol H2-T5
Ensembl Gene
Gene Name histocompatibility 2, T region locus 5
Synonyms Gm8909, H2-T26, H-2T5
MMRRC Submission 042991-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5425 (G1)
Quality Score 209
Status Not validated
Chromosome 17
Chromosomal Location 36475335-36479429 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36479377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 8 (L8R)
Ref Sequence ENSEMBL: ENSMUSP00000036092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040467] [ENSMUST00000097335] [ENSMUST00000173353]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040467
AA Change: L8R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: L8R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 26 204 5.9e-96 PFAM
IGc1 223 294 8.23e-23 SMART
transmembrane domain 310 332 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000097335
AA Change: L8R
SMART Domains Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: L8R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 54 232 7.3e-96 PFAM
IGc1 251 322 8.23e-23 SMART
transmembrane domain 338 360 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000173353
AA Change: L8R
SMART Domains Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: L8R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 54 232 3.9e-93 PFAM
IGc1 251 322 8.23e-23 SMART
transmembrane domain 338 360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174693
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,864,254 (GRCm39) E465G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Aida T A 1: 183,103,201 (GRCm39) C174S possibly damaging Het
Aldh1a2 G A 9: 71,160,286 (GRCm39) R104H probably benign Het
Aldh3a1 T C 11: 61,104,407 (GRCm39) L98P probably benign Het
Ankmy1 G T 1: 92,798,679 (GRCm39) Y20* probably null Het
Arhgap9 C A 10: 127,162,287 (GRCm39) N314K probably damaging Het
Atxn7l1 T C 12: 33,417,119 (GRCm39) Y427H probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Bola3 G T 6: 83,326,534 (GRCm39) G18W probably benign Het
Carmil3 A G 14: 55,731,334 (GRCm39) T138A probably benign Het
Castor1 T A 11: 4,171,689 (GRCm39) H304Q probably damaging Het
Ccnd2 A G 6: 127,127,580 (GRCm39) Y53H probably benign Het
Cd101 T A 3: 100,926,002 (GRCm39) D239V probably damaging Het
Ces1g T A 8: 94,052,428 (GRCm39) Q287L probably benign Het
Cfap43 C T 19: 47,885,371 (GRCm39) A415T possibly damaging Het
Cfap74 A G 4: 155,540,149 (GRCm39) probably benign Het
Crnn A G 3: 93,056,456 (GRCm39) K414R probably benign Het
Csf1 A G 3: 107,656,212 (GRCm39) L273P possibly damaging Het
Dab2ip T G 2: 35,600,003 (GRCm39) H206Q probably benign Het
Dipk2a T C 9: 94,419,745 (GRCm39) S62G probably damaging Het
Diras2 A G 13: 52,662,083 (GRCm39) S75P probably damaging Het
Dst T C 1: 34,218,831 (GRCm39) V1757A probably benign Het
Dus4l A T 12: 31,690,807 (GRCm39) H281Q probably damaging Het
Faah A T 4: 115,857,993 (GRCm39) M436K probably null Het
Fat1 T C 8: 45,478,922 (GRCm39) V2656A possibly damaging Het
Ffar1 A C 7: 30,560,204 (GRCm39) L231R probably damaging Het
Gab1 T C 8: 81,527,018 (GRCm39) K27E probably damaging Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Irx6 T C 8: 93,404,145 (GRCm39) probably null Het
Mcrs1 C A 15: 99,141,569 (GRCm39) R376L probably damaging Het
Mrgprb1 T A 7: 48,097,719 (GRCm39) L64F possibly damaging Het
Nck2 T G 1: 43,593,552 (GRCm39) V253G probably benign Het
Paip1 C T 13: 119,566,702 (GRCm39) T12M possibly damaging Het
Pdpk1 A T 17: 24,317,095 (GRCm39) L256Q probably damaging Het
Perm1 A G 4: 156,302,752 (GRCm39) D432G probably benign Het
Psg25 A T 7: 18,258,709 (GRCm39) Y322* probably null Het
Pzp G A 6: 128,466,011 (GRCm39) A1223V probably damaging Het
Rassf8 A T 6: 145,761,268 (GRCm39) Y198F probably benign Het
Repin1 A G 6: 48,573,365 (GRCm39) Q42R probably benign Het
Sirpb1b A C 3: 15,613,729 (GRCm39) C51G probably damaging Het
Snx13 C T 12: 35,150,643 (GRCm39) Q316* probably null Het
Spesp1 A G 9: 62,189,331 (GRCm39) V5A possibly damaging Het
Sprr2e G A 3: 92,260,370 (GRCm39) C67Y unknown Het
Tcaf3 G A 6: 42,573,697 (GRCm39) P172S probably damaging Het
Tmem126b A G 7: 90,120,155 (GRCm39) I72T probably benign Het
Tmem17 G T 11: 22,468,624 (GRCm39) V188L probably benign Het
Tnfrsf1b T C 4: 144,955,678 (GRCm39) probably null Het
Tshz2 A T 2: 169,725,944 (GRCm39) Q180L probably damaging Het
Ttc41 A T 10: 86,612,494 (GRCm39) I1256F probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ywhag G T 5: 135,940,119 (GRCm39) H158Q probably benign Het
Other mutations in H2-T5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:H2-T5 APN 17 36,476,246 (GRCm39) critical splice donor site probably null
IGL00534:H2-T5 APN 17 36,479,021 (GRCm39) missense probably damaging 1.00
IGL02312:H2-T5 APN 17 36,476,299 (GRCm39) missense probably benign 0.01
IGL03346:H2-T5 APN 17 36,479,001 (GRCm39) missense probably damaging 1.00
H8441:H2-T5 UTSW 17 36,478,874 (GRCm39) missense possibly damaging 0.84
R0005:H2-T5 UTSW 17 36,473,084 (GRCm39) unclassified probably benign
R0078:H2-T5 UTSW 17 36,476,353 (GRCm39) missense possibly damaging 0.95
R0211:H2-T5 UTSW 17 36,478,899 (GRCm39) missense probably damaging 1.00
R0211:H2-T5 UTSW 17 36,478,899 (GRCm39) missense probably damaging 1.00
R0233:H2-T5 UTSW 17 36,478,361 (GRCm39) missense probably benign 0.42
R0233:H2-T5 UTSW 17 36,478,361 (GRCm39) missense probably benign 0.42
R0553:H2-T5 UTSW 17 36,478,949 (GRCm39) missense probably damaging 1.00
R0670:H2-T5 UTSW 17 36,478,990 (GRCm39) missense possibly damaging 0.74
R1718:H2-T5 UTSW 17 36,472,676 (GRCm39) unclassified probably benign
R1937:H2-T5 UTSW 17 36,478,899 (GRCm39) missense probably damaging 1.00
R2571:H2-T5 UTSW 17 36,478,553 (GRCm39) missense possibly damaging 0.66
R4393:H2-T5 UTSW 17 36,472,861 (GRCm39) unclassified probably benign
R4396:H2-T5 UTSW 17 36,472,861 (GRCm39) unclassified probably benign
R4409:H2-T5 UTSW 17 36,476,742 (GRCm39) missense possibly damaging 0.53
R4505:H2-T5 UTSW 17 36,472,372 (GRCm39) unclassified probably benign
R4506:H2-T5 UTSW 17 36,472,372 (GRCm39) unclassified probably benign
R4507:H2-T5 UTSW 17 36,472,372 (GRCm39) unclassified probably benign
R4579:H2-T5 UTSW 17 36,472,649 (GRCm39) unclassified probably benign
R4684:H2-T5 UTSW 17 36,476,750 (GRCm39) missense possibly damaging 0.90
R4740:H2-T5 UTSW 17 36,478,448 (GRCm39) missense probably damaging 1.00
R5087:H2-T5 UTSW 17 36,476,308 (GRCm39) nonsense probably null
R5103:H2-T5 UTSW 17 36,472,577 (GRCm39) unclassified probably benign
R5275:H2-T5 UTSW 17 36,472,567 (GRCm39) splice site probably null
R6155:H2-T5 UTSW 17 36,478,399 (GRCm39) missense possibly damaging 0.93
R6727:H2-T5 UTSW 17 36,476,622 (GRCm39) missense probably damaging 1.00
R6852:H2-T5 UTSW 17 36,478,965 (GRCm39) missense possibly damaging 0.52
R7985:H2-T5 UTSW 17 36,478,445 (GRCm39) missense probably damaging 1.00
R8316:H2-T5 UTSW 17 36,479,154 (GRCm39) missense unknown
R8872:H2-T5 UTSW 17 36,476,293 (GRCm39) missense probably benign 0.00
R9046:H2-T5 UTSW 17 36,476,035 (GRCm39) critical splice donor site probably null
R9296:H2-T5 UTSW 17 36,479,169 (GRCm39) missense unknown
Z1177:H2-T5 UTSW 17 36,476,604 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGAAATACCGCATCGAGTGTG -3'
(R):5'- AGCAGGAATTATCTGGCAGG -3'

Sequencing Primer
(F):5'- CATCGAGTGTGGGCCTG -3'
(R):5'- CAGGAATTATCTGGCAGGTCTCGTC -3'
Posted On 2016-09-01