Incidental Mutation 'R2042:Sprr2k'
ID225025
Institutional Source Beutler Lab
Gene Symbol Sprr2k
Ensembl Gene ENSMUSG00000054215
Gene Namesmall proline-rich protein 2K
Synonyms
MMRRC Submission 040049-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #R2042 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location92432582-92433925 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 92433456 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047300] [ENSMUST00000062160] [ENSMUST00000067102] [ENSMUST00000192538]
Predicted Effect probably benign
Transcript: ENSMUST00000047300
SMART Domains Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 111 5.8e-36 PFAM
low complexity region 132 150 N/A INTRINSIC
Pfam:RPN13_C 170 283 7.5e-38 PFAM
low complexity region 292 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062160
SMART Domains Protein: ENSMUSP00000058617
Gene: ENSMUSG00000048455

DomainStartEndE-ValueType
Pfam:Cornifin 17 151 6e-65 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000067102
AA Change: C38R
SMART Domains Protein: ENSMUSP00000063287
Gene: ENSMUSG00000054215
AA Change: C38R

DomainStartEndE-ValueType
Pfam:SPRR2 2 65 1.8e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192538
SMART Domains Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 112 7.4e-35 PFAM
low complexity region 135 161 N/A INTRINSIC
low complexity region 173 254 N/A INTRINSIC
PDB:2KR0|A 255 407 4e-78 PDB
Meta Mutation Damage Score 0.1092 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,416,728 probably benign Het
9130019O22Rik A T 7: 127,385,469 C154S possibly damaging Het
Abca16 G A 7: 120,544,718 R1653Q probably benign Het
Ahnak2 T A 12: 112,785,819 Y176F probably damaging Het
Ano6 T C 15: 95,956,023 probably null Het
Atr T C 9: 95,870,022 L564S probably benign Het
Birc6 C G 17: 74,609,659 A1774G probably damaging Het
Cacng1 C T 11: 107,704,308 A148T probably damaging Het
Cd53 T A 3: 106,767,424 probably null Het
Celsr2 A G 3: 108,402,495 F1596S probably damaging Het
Cep120 A T 18: 53,735,742 F122I possibly damaging Het
Ckm A T 7: 19,414,157 H7L possibly damaging Het
Crybg2 T C 4: 134,087,533 V1575A possibly damaging Het
Cspp1 A G 1: 10,112,538 E712G probably damaging Het
Cyp2b23 C A 7: 26,666,108 R434L probably damaging Het
D630003M21Rik A T 2: 158,215,849 S570T probably damaging Het
Dmbt1 A G 7: 131,106,359 I1444V probably damaging Het
Dnah8 T C 17: 30,635,658 V98A probably benign Het
Dtx1 T G 5: 120,694,476 N299T probably benign Het
Efr3b T A 12: 3,984,627 D65V probably damaging Het
Eml4 T C 17: 83,448,178 C323R probably damaging Het
Eps15 C T 4: 109,304,767 T31I probably damaging Het
Fam160a2 G T 7: 105,384,121 Y629* probably null Het
Fam205c C T 4: 42,874,030 C46Y possibly damaging Het
Fam46b T C 4: 133,486,613 V265A possibly damaging Het
Fam91a1 A G 15: 58,426,594 I184V probably benign Het
Fbxl8 A T 8: 105,268,224 I123F probably damaging Het
Fbxw26 T G 9: 109,732,704 T141P probably damaging Het
Glra3 G A 8: 56,062,459 D190N probably benign Het
Hspg2 T C 4: 137,568,366 L4229P probably damaging Het
Ipmk C T 10: 71,363,503 R65W probably damaging Het
Irs2 A G 8: 11,007,580 I284T probably damaging Het
Klhl22 T C 16: 17,792,420 probably benign Het
Lmcd1 T A 6: 112,315,890 D234E probably benign Het
Lrrc14b T C 13: 74,363,442 K173R probably benign Het
Magi1 A T 6: 93,755,045 N209K probably benign Het
Mak A C 13: 41,049,436 S179A possibly damaging Het
Map3k4 C A 17: 12,277,983 R87L probably damaging Het
Map4k1 T C 7: 28,984,130 L53P probably damaging Het
Melk T C 4: 44,309,051 probably null Het
Mks1 C T 11: 87,856,668 probably benign Het
Mrgpra2b C T 7: 47,464,160 V249I probably benign Het
N4bp2 C T 5: 65,826,621 P1670S probably damaging Het
Ncf1 C G 5: 134,226,640 Q132H probably benign Het
Nemp1 T C 10: 127,696,334 S370P possibly damaging Het
Nt5c3b T C 11: 100,436,194 H92R probably benign Het
Olfr1180 G A 2: 88,412,202 A152V possibly damaging Het
Olfr527 T C 7: 140,335,937 L25P probably damaging Het
P4ha3 T C 7: 100,300,690 probably null Het
Pcnx C A 12: 81,918,293 H411Q probably damaging Het
Podxl A G 6: 31,523,116 V473A possibly damaging Het
Prkd2 T C 7: 16,856,268 S530P possibly damaging Het
Scin A G 12: 40,077,510 I427T possibly damaging Het
Sgo2b T C 8: 63,928,527 T424A probably benign Het
Slc22a2 T C 17: 12,599,125 I196T probably benign Het
Slc47a2 C A 11: 61,338,082 V90L probably benign Het
Slc4a7 G A 14: 14,737,386 V99M probably damaging Het
Spta1 G A 1: 174,211,647 M1185I probably benign Het
Uaca T C 9: 60,869,891 V518A probably damaging Het
Ubr3 C T 2: 69,977,774 Q1200* probably null Het
Ufm1 A G 3: 53,859,281 probably benign Het
Zer1 G A 2: 30,108,274 L342F probably damaging Het
Zfp142 G A 1: 74,570,619 T1236I probably benign Het
Zfp236 A G 18: 82,633,109 Y845H probably damaging Het
Zfp787 T C 7: 6,132,764 K163E possibly damaging Het
Other mutations in Sprr2k
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0310:Sprr2k UTSW 3 92433463 unclassified probably benign
R1476:Sprr2k UTSW 3 92433396 unclassified probably benign
R4844:Sprr2k UTSW 3 92429425 splice site probably null
R5733:Sprr2k UTSW 3 92433348 unclassified probably benign
R6802:Sprr2k UTSW 3 92433364 unclassified probably benign
R8088:Sprr2k UTSW 3 92433489 missense unknown
Predicted Primers PCR Primer
(F):5'- GTGTGTATGAGAGAATTACAATGCC -3'
(R):5'- GCATCCATGAGAGGTTGTGAAG -3'

Sequencing Primer
(F):5'- CTTGAGCTGTTTCTATGAGAATAACC -3'
(R):5'- TCCATGAGAGGTTGTGAAGGGAAG -3'
Posted On2014-08-25