Incidental Mutation 'R0336:Xkr5'
ID 34122
Institutional Source Beutler Lab
Gene Symbol Xkr5
Ensembl Gene ENSMUSG00000039814
Gene Name X-linked Kx blood group related 5
Synonyms 5430438H03Rik
MMRRC Submission 038545-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0336 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 18982745-19000991 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 18990652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 205 (R205L)
Ref Sequence ENSEMBL: ENSMUSP00000093089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055503] [ENSMUST00000095438] [ENSMUST00000143913] [ENSMUST00000152974]
AlphaFold Q5GH66
Predicted Effect possibly damaging
Transcript: ENSMUST00000055503
AA Change: R39L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: R39L

DomainStartEndE-ValueType
Pfam:XK-related 1 155 1.4e-46 PFAM
low complexity region 240 247 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000095438
AA Change: R205L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: R205L

DomainStartEndE-ValueType
Pfam:XK-related 5 321 1.6e-87 PFAM
low complexity region 406 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143913
SMART Domains Protein: ENSMUSP00000121958
Gene: ENSMUSG00000039814

DomainStartEndE-ValueType
Pfam:XK-related 2 109 2.8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144987
Predicted Effect probably benign
Transcript: ENSMUST00000152974
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.1%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,481 (GRCm39) I2743V probably benign Het
Adamts16 A G 13: 70,939,913 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,458,998 (GRCm39) I427V probably benign Het
Arhgef1 T A 7: 24,621,382 (GRCm39) F510I possibly damaging Het
B3glct A G 5: 149,670,057 (GRCm39) D342G probably damaging Het
Bcl2a1c G T 9: 114,159,353 (GRCm39) V44F probably damaging Het
Brca1 A G 11: 101,414,819 (GRCm39) V1105A probably benign Het
Ccn5 C A 2: 163,674,242 (GRCm39) A214D probably damaging Het
Cep135 A G 5: 76,749,349 (GRCm39) H272R probably benign Het
Coa8 T C 12: 111,700,092 (GRCm39) probably benign Het
Cog1 A C 11: 113,553,076 (GRCm39) H365P probably benign Het
Col12a1 A T 9: 79,609,627 (GRCm39) L293Q probably damaging Het
Col18a1 A G 10: 76,894,570 (GRCm39) L1493P probably damaging Het
Ctsh A G 9: 89,957,791 (GRCm39) Y290C probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Defb39 G T 8: 19,102,985 (GRCm39) H37N possibly damaging Het
Epha3 A G 16: 63,387,011 (GRCm39) I875T probably damaging Het
Fbrsl1 A G 5: 110,595,817 (GRCm39) S73P probably damaging Het
Fga T C 3: 82,938,164 (GRCm39) S180P probably damaging Het
Fndc1 C T 17: 7,983,939 (GRCm39) R1329Q unknown Het
Fyn C A 10: 39,402,897 (GRCm39) T223K possibly damaging Het
Galnt6 A T 15: 100,597,087 (GRCm39) S360T probably damaging Het
Grsf1 C A 5: 88,811,012 (GRCm39) V336F probably damaging Het
Hip1 A T 5: 135,457,467 (GRCm39) Y720N probably benign Het
Hivep3 G A 4: 119,961,044 (GRCm39) E1700K probably damaging Het
Ifna6 T C 4: 88,746,178 (GRCm39) S176P probably damaging Het
Lilrb4b T A 10: 51,357,389 (GRCm39) L75Q probably benign Het
Lrig3 C T 10: 125,802,574 (GRCm39) T77I probably benign Het
Mpped1 C T 15: 83,720,483 (GRCm39) P135L probably damaging Het
Mss51 T A 14: 20,533,254 (GRCm39) I406F possibly damaging Het
Mybpc2 T C 7: 44,155,040 (GRCm39) N956D probably damaging Het
Or4a27 T C 2: 88,559,498 (GRCm39) I148M possibly damaging Het
Podxl2 G A 6: 88,826,577 (GRCm39) T243I probably benign Het
Polr2a C T 11: 69,627,719 (GRCm39) R1396Q possibly damaging Het
Pramel51 T C 12: 88,144,961 (GRCm39) I122V probably benign Het
Pygm C T 19: 6,438,788 (GRCm39) R205W probably damaging Het
Rfx3 A G 19: 27,783,662 (GRCm39) M428T probably benign Het
Ric1 A T 19: 29,565,193 (GRCm39) T647S probably damaging Het
Rictor G A 15: 6,806,234 (GRCm39) probably null Het
Rnf38 A T 4: 44,152,350 (GRCm39) probably benign Het
Slc6a21 T A 7: 44,935,892 (GRCm39) I41K probably damaging Het
St8sia4 T A 1: 95,581,283 (GRCm39) D153V probably benign Het
Stk33 T C 7: 108,930,681 (GRCm39) N226S probably benign Het
Strn3 A G 12: 51,708,391 (GRCm39) probably null Het
Tlr6 G T 5: 65,111,289 (GRCm39) N539K probably benign Het
Tmem129 G T 5: 33,812,946 (GRCm39) P134Q probably damaging Het
Tmem94 A G 11: 115,678,211 (GRCm39) I145V probably benign Het
Trap1 A C 16: 3,862,490 (GRCm39) V596G probably damaging Het
Tspan2 A G 3: 102,642,343 (GRCm39) I11V probably null Het
Ttc23 A T 7: 67,312,231 (GRCm39) H46L probably benign Het
Txnip T A 3: 96,467,295 (GRCm39) D292E probably benign Het
Vmn1r121 T A 7: 20,832,387 (GRCm39) I18F possibly damaging Het
Vmn1r61 G A 7: 5,614,066 (GRCm39) H83Y probably benign Het
Vmn1r82 T C 7: 12,039,248 (GRCm39) S174P probably benign Het
Vmn2r79 A C 7: 86,651,287 (GRCm39) T229P probably benign Het
Vps13b T G 15: 35,455,279 (GRCm39) Y729* probably null Het
Xdh C T 17: 74,229,458 (GRCm39) V332M possibly damaging Het
Zc3h4 T C 7: 16,169,103 (GRCm39) S1071P unknown Het
Zc3h6 A G 2: 128,857,332 (GRCm39) H617R possibly damaging Het
Zfp597 A G 16: 3,684,243 (GRCm39) V171A probably benign Het
Zfp709 T C 8: 72,644,449 (GRCm39) F626S probably damaging Het
Zfp944 C A 17: 22,558,009 (GRCm39) D413Y probably damaging Het
Zfp979 A C 4: 147,697,592 (GRCm39) S372R possibly damaging Het
Other mutations in Xkr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Xkr5 APN 8 18,983,514 (GRCm39) missense probably damaging 1.00
IGL02153:Xkr5 APN 8 18,983,683 (GRCm39) missense probably benign 0.09
IGL02637:Xkr5 APN 8 18,984,099 (GRCm39) missense probably benign 0.00
IGL02968:Xkr5 APN 8 18,983,641 (GRCm39) missense probably benign 0.13
IGL02983:Xkr5 APN 8 18,983,848 (GRCm39) missense probably benign 0.00
IGL03222:Xkr5 APN 8 18,987,315 (GRCm39) missense probably damaging 0.98
PIT4431001:Xkr5 UTSW 8 18,984,361 (GRCm39) missense possibly damaging 0.67
R0638:Xkr5 UTSW 8 18,983,563 (GRCm39) missense probably benign 0.00
R1644:Xkr5 UTSW 8 18,984,141 (GRCm39) missense probably benign 0.03
R1703:Xkr5 UTSW 8 18,989,134 (GRCm39) missense probably benign 0.15
R1777:Xkr5 UTSW 8 18,989,148 (GRCm39) missense probably benign 0.33
R1972:Xkr5 UTSW 8 18,991,997 (GRCm39) missense probably damaging 1.00
R3715:Xkr5 UTSW 8 18,984,474 (GRCm39) missense probably benign 0.03
R4274:Xkr5 UTSW 8 18,984,183 (GRCm39) missense probably benign 0.00
R4603:Xkr5 UTSW 8 18,983,733 (GRCm39) missense possibly damaging 0.70
R4742:Xkr5 UTSW 8 18,998,746 (GRCm39) makesense probably null
R5019:Xkr5 UTSW 8 18,992,126 (GRCm39) missense probably benign 0.00
R5103:Xkr5 UTSW 8 18,983,659 (GRCm39) missense probably benign 0.00
R5331:Xkr5 UTSW 8 18,983,484 (GRCm39) utr 3 prime probably benign
R5649:Xkr5 UTSW 8 18,983,982 (GRCm39) missense probably benign 0.00
R5883:Xkr5 UTSW 8 18,990,806 (GRCm39) missense probably damaging 1.00
R6005:Xkr5 UTSW 8 18,984,521 (GRCm39) missense probably benign 0.00
R6393:Xkr5 UTSW 8 18,998,716 (GRCm39) missense probably damaging 1.00
R6615:Xkr5 UTSW 8 18,983,569 (GRCm39) missense probably benign 0.05
R7488:Xkr5 UTSW 8 18,983,608 (GRCm39) nonsense probably null
R8011:Xkr5 UTSW 8 18,998,736 (GRCm39) nonsense probably null
R8678:Xkr5 UTSW 8 18,984,048 (GRCm39) missense probably benign 0.01
R8928:Xkr5 UTSW 8 18,983,787 (GRCm39) missense probably benign 0.01
R9572:Xkr5 UTSW 8 18,984,166 (GRCm39) missense probably benign 0.41
R9579:Xkr5 UTSW 8 18,983,785 (GRCm39) missense probably benign 0.02
R9622:Xkr5 UTSW 8 18,984,247 (GRCm39) missense probably benign 0.02
R9762:Xkr5 UTSW 8 18,990,749 (GRCm39) missense probably benign 0.00
Z1177:Xkr5 UTSW 8 18,990,801 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTCTTGGAAACACAGAGACCTGC -3'
(R):5'- GCTGGGACATTTTAAACGGGCATC -3'

Sequencing Primer
(F):5'- ACACAGAGACCTGCTTTTCTACTG -3'
(R):5'- AGAGCCTGTAGTAAGCTCTGTC -3'
Posted On 2013-05-09