Incidental Mutation 'R3883:Sprr1a'
ID 308807
Institutional Source Beutler Lab
Gene Symbol Sprr1a
Ensembl Gene ENSMUSG00000050359
Gene Name small proline-rich protein 1A
Synonyms
MMRRC Submission 040796-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3883 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 92483952-92485895 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92484520 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 58 (P58L)
Ref Sequence ENSEMBL: ENSMUSP00000053751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054599]
AlphaFold Q62266
Predicted Effect probably damaging
Transcript: ENSMUST00000054599
AA Change: P58L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053751
Gene: ENSMUSG00000050359
AA Change: P58L

DomainStartEndE-ValueType
Pfam:Cornifin 17 142 6.1e-54 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 C T 8: 46,527,191 S423L probably benign Het
Ankmy1 T G 1: 92,886,152 E435A probably damaging Het
Ano5 T A 7: 51,566,304 M343K probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
C3 T C 17: 57,217,173 probably null Het
C530008M17Rik T A 5: 76,856,574 W261R unknown Het
Cdk17 T C 10: 93,212,077 probably null Het
Cntn2 A G 1: 132,528,939 V123A probably damaging Het
Dchs1 A G 7: 105,762,563 Y1449H probably damaging Het
Ddx42 T A 11: 106,247,692 N772K probably benign Het
Dnah11 T C 12: 117,978,453 probably benign Het
Edn1 T A 13: 42,301,906 F4L probably benign Het
Epb41l3 C T 17: 69,274,116 R552* probably null Het
Epc1 T C 18: 6,452,258 D267G possibly damaging Het
Fbxo22 A T 9: 55,223,262 T169S probably benign Het
Fmnl1 A G 11: 103,182,114 N144D probably damaging Het
Folh1 A G 7: 86,775,656 L35P possibly damaging Het
Gm10220 A C 5: 26,116,910 S255A possibly damaging Het
Gm15446 G T 5: 109,940,447 V9L probably damaging Het
Hipk2 A G 6: 38,699,265 L1011P probably damaging Het
Kif4-ps G T 12: 101,146,214 V201L probably damaging Het
Klk1b16 T C 7: 44,139,463 V40A possibly damaging Het
Lgsn C A 1: 31,176,459 D3E probably benign Het
Mavs T C 2: 131,245,298 S239P probably benign Het
Mkl2 T A 16: 13,401,458 V667D probably damaging Het
Mtrf1 A G 14: 79,419,267 Y403C probably damaging Het
Mycbp2 A C 14: 103,295,250 L390V probably damaging Het
Neto2 A G 8: 85,663,265 S190P probably damaging Het
Ngly1 A G 14: 16,270,574 I195V probably damaging Het
Olfr1339 T C 4: 118,734,685 I52T probably benign Het
Olfr961 A G 9: 39,647,124 I133V probably benign Het
Pde4dip T C 3: 97,713,188 K1632E probably damaging Het
Pigk T C 3: 152,714,195 S21P probably benign Het
Rabggtb A G 3: 153,910,780 F82L probably damaging Het
Reep6 G A 10: 80,335,535 R415Q probably benign Het
Serpinb13 T C 1: 106,998,572 V159A probably benign Het
Slc5a8 T A 10: 88,902,463 M196K possibly damaging Het
Taf1a A T 1: 183,390,948 T10S possibly damaging Het
Tap1 T A 17: 34,193,258 V479E probably damaging Het
Trpm4 C T 7: 45,321,998 probably null Het
Ush2a T C 1: 188,263,382 Y117H probably benign Het
Vmn2r58 A T 7: 41,864,490 L243* probably null Het
Zbtb32 A G 7: 30,591,144 I242T probably benign Het
Zbtb7a T C 10: 81,148,025 C434R probably damaging Het
Other mutations in Sprr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03035:Sprr1a APN 3 92484577 missense probably benign 0.03
R0321:Sprr1a UTSW 3 92484302 missense probably benign 0.27
R3758:Sprr1a UTSW 3 92484397 missense probably damaging 1.00
R5889:Sprr1a UTSW 3 92484644 missense probably benign 0.24
R7195:Sprr1a UTSW 3 92484367 missense probably damaging 1.00
R8295:Sprr1a UTSW 3 92484542 missense possibly damaging 0.89
R8771:Sprr1a UTSW 3 92484682 missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- GTGATCAGGTCTTCAGGCATGG -3'
(R):5'- TGAGTTCCCACCAGCAGAAG -3'

Sequencing Primer
(F):5'- CAGGCATGGCTCTGGACAATATTAC -3'
(R):5'- CAGCAGAAGCAGCCCTG -3'
Posted On 2015-04-17