Incidental Mutation 'R9591:Sprr2a3'
ID 722990
Institutional Source Beutler Lab
Gene Symbol Sprr2a3
Ensembl Gene ENSMUSG00000074445
Gene Name small proline-rich protein 2A3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9591 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 92192611-92196571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92195961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 23 (C23S)
Ref Sequence ENSEMBL: ENSMUSP00000142110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090872] [ENSMUST00000193337]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000090872
AA Change: C23S
SMART Domains Protein: ENSMUSP00000088387
Gene: ENSMUSG00000074445
AA Change: C23S

DomainStartEndE-ValueType
Pfam:SPRR2 2 51 1.9e-11 PFAM
internal_repeat_1 57 79 6.43e-7 PROSPERO
Predicted Effect unknown
Transcript: ENSMUST00000193337
AA Change: C23S
SMART Domains Protein: ENSMUSP00000142110
Gene: ENSMUSG00000074445
AA Change: C23S

DomainStartEndE-ValueType
Pfam:SPRR2 2 50 4e-15 PFAM
Pfam:SPRR2 36 83 5.1e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,488 (GRCm39) I486N probably damaging Het
Ablim3 T C 18: 61,954,984 (GRCm39) Y335C probably benign Het
Adam24 C A 8: 41,132,698 (GRCm39) D55E probably benign Het
Ankrd13d A G 19: 4,320,250 (GRCm39) *164Q probably null Het
Arhgap25 T C 6: 87,440,102 (GRCm39) N515S probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Btbd9 T C 17: 30,736,222 (GRCm39) D297G probably damaging Het
C4b A T 17: 34,957,929 (GRCm39) M584K probably benign Het
C9orf72 C T 4: 35,218,557 (GRCm39) G101R Het
Ccdc116 T C 16: 16,960,598 (GRCm39) D73G probably damaging Het
Cd19 A G 7: 126,011,296 (GRCm39) V296A probably benign Het
Cldn19 A G 4: 119,114,357 (GRCm39) T133A probably benign Het
Crygn G T 5: 24,961,073 (GRCm39) H78N probably damaging Het
Dhrs11 T G 11: 84,719,584 (GRCm39) N47T probably benign Het
Fat3 T C 9: 16,288,336 (GRCm39) S396G probably benign Het
Gm3667 T C 14: 18,270,388 (GRCm39) Y139C probably damaging Het
Hivep2 A G 10: 14,019,640 (GRCm39) N2137S probably damaging Het
Iapp T A 6: 142,249,063 (GRCm39) C39S probably damaging Het
Irs1 T C 1: 82,265,969 (GRCm39) E749G probably benign Het
Lpcat1 T G 13: 73,659,471 (GRCm39) V411G probably damaging Het
Map3k4 C A 17: 12,454,795 (GRCm39) E1398D possibly damaging Het
Muc5b A G 7: 141,412,516 (GRCm39) T1821A unknown Het
Neu1 T C 17: 35,150,474 (GRCm39) L31P probably benign Het
Nfam1 T C 15: 82,900,581 (GRCm39) T94A possibly damaging Het
Nlrc5 T G 8: 95,249,309 (GRCm39) S1752R probably damaging Het
Opn1sw T A 6: 29,378,926 (GRCm39) E242V probably damaging Het
Or51b6 A T 7: 103,556,470 (GRCm39) I272F Het
Peak1 C A 9: 56,166,834 (GRCm39) V365F possibly damaging Het
Rgl2 C T 17: 34,151,451 (GRCm39) T165I possibly damaging Het
Rnpepl1 T C 1: 92,847,309 (GRCm39) L632P probably damaging Het
Sec1 G A 7: 45,328,102 (GRCm39) T315M Het
Sipa1l2 A T 8: 126,219,112 (GRCm39) M75K probably damaging Het
Smchd1 G A 17: 71,701,828 (GRCm39) H1055Y probably damaging Het
Tbck T A 3: 132,400,195 (GRCm39) L82Q probably benign Het
Tmprss11a C T 5: 86,567,897 (GRCm39) V277I possibly damaging Het
Vmn2r103 A T 17: 20,031,921 (GRCm39) E565V possibly damaging Het
Zfp148 T A 16: 33,315,737 (GRCm39) D230E Het
Other mutations in Sprr2a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Sprr2a3 APN 3 92,196,074 (GRCm39) nonsense probably null
R0597:Sprr2a3 UTSW 3 92,195,897 (GRCm39) start codon destroyed probably null
R7742:Sprr2a3 UTSW 3 92,196,066 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCAGGACCTCCTAAAATAGTATGGG -3'
(R):5'- TGGTCACTTCTGCTGGCATG -3'

Sequencing Primer
(F):5'- TATGCACACATAGGTACACAGGGTTC -3'
(R):5'- CTGGCATGGTGGAAATTGCAC -3'
Posted On 2022-08-09