Incidental Mutation 'R6554:Sprr1b'
ID 521830
Institutional Source Beutler Lab
Gene Symbol Sprr1b
Ensembl Gene ENSMUSG00000048455
Gene Name small proline-rich protein 1B
Synonyms
MMRRC Submission 044679-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6554 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 92344116-92346096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 92344420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 152 (Q152P)
Ref Sequence ENSEMBL: ENSMUSP00000058617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062160] [ENSMUST00000067102]
AlphaFold Q62267
Predicted Effect possibly damaging
Transcript: ENSMUST00000062160
AA Change: Q152P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000058617
Gene: ENSMUSG00000048455
AA Change: Q152P

DomainStartEndE-ValueType
Pfam:Cornifin 17 151 6e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067102
SMART Domains Protein: ENSMUSP00000063287
Gene: ENSMUSG00000054215

DomainStartEndE-ValueType
Pfam:SPRR2 2 65 1.8e-26 PFAM
Meta Mutation Damage Score 0.0921 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,618,246 (GRCm39) R180C probably damaging Het
B3galt9 C A 2: 34,729,276 (GRCm39) S358R probably benign Het
Ces1b C A 8: 93,791,619 (GRCm39) V327L probably benign Het
Cps1 C T 1: 67,213,628 (GRCm39) R787* probably null Het
Dmrt2 C T 19: 25,655,312 (GRCm39) P304S probably damaging Het
Dop1b A G 16: 93,557,346 (GRCm39) D429G probably benign Het
Dync1h1 T A 12: 110,616,282 (GRCm39) M3111K probably benign Het
Dync2h1 A G 9: 7,037,699 (GRCm39) V3393A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fam184a T C 10: 53,517,063 (GRCm39) D1007G possibly damaging Het
Flt3 A C 5: 147,312,545 (GRCm39) L132W probably damaging Het
Gm14322 G A 2: 177,410,220 (GRCm39) S60N possibly damaging Het
Katnip C T 7: 125,449,914 (GRCm39) R993C probably damaging Het
Kcnj16 T A 11: 110,916,131 (GRCm39) Y264* probably null Het
Klkb1 T A 8: 45,726,591 (GRCm39) I471F probably damaging Het
Lrfn4 T C 19: 4,663,914 (GRCm39) T207A probably damaging Het
Mfsd4b5 T A 10: 39,862,428 (GRCm39) T32S probably benign Het
Mtbp A G 15: 55,430,645 (GRCm39) D234G probably damaging Het
Nfix T C 8: 85,454,279 (GRCm39) T218A possibly damaging Het
Nsd3 A T 8: 26,152,891 (GRCm39) E410D probably damaging Het
Or4g17 C T 2: 111,209,504 (GRCm39) S53F possibly damaging Het
Or5aq7 A T 2: 86,937,970 (GRCm39) S254T probably benign Het
Reln T C 5: 22,101,838 (GRCm39) Y3364C probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpina1d A T 12: 103,731,062 (GRCm39) H305Q probably benign Het
Skic8 A T 9: 54,634,929 (GRCm39) I88N probably damaging Het
Skint8 G A 4: 111,784,413 (GRCm39) C13Y probably benign Het
Smc4 G A 3: 68,936,848 (GRCm39) V863I probably benign Het
Spdl1 T G 11: 34,713,397 (GRCm39) N224T possibly damaging Het
St6gal1 A G 16: 23,140,405 (GRCm39) N192S probably benign Het
Tbc1d8 T C 1: 39,445,903 (GRCm39) N96S probably damaging Het
Tbccd1 A T 16: 22,640,874 (GRCm39) I501K probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Unk T C 11: 115,942,285 (GRCm39) I293T probably damaging Het
Vmn2r61 A G 7: 41,926,139 (GRCm39) E548G probably damaging Het
Wdr97 A G 15: 76,239,178 (GRCm39) D85G possibly damaging Het
Zeb2 A T 2: 44,887,524 (GRCm39) V496E probably damaging Het
Other mutations in Sprr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1514:Sprr1b UTSW 3 92,344,414 (GRCm39) makesense probably null
R1913:Sprr1b UTSW 3 92,344,775 (GRCm39) missense possibly damaging 0.71
R4723:Sprr1b UTSW 3 92,344,600 (GRCm39) missense probably damaging 1.00
R8286:Sprr1b UTSW 3 92,344,720 (GRCm39) missense probably benign 0.00
R8805:Sprr1b UTSW 3 92,344,653 (GRCm39) unclassified probably benign
R9041:Sprr1b UTSW 3 92,344,477 (GRCm39) missense probably benign
R9526:Sprr1b UTSW 3 92,344,443 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- GGGTGAATTCTGAGACCCAG -3'
(R):5'- CTGTGACACCAAGGTTCCTGAG -3'

Sequencing Primer
(F):5'- TCTGAGACCCAGAGCCC -3'
(R):5'- ACCAAGGTTCCTGAGCCCTG -3'
Posted On 2018-06-06