Incidental Mutation 'R8034:Sprr2h'
ID 618121
Institutional Source Beutler Lab
Gene Symbol Sprr2h
Ensembl Gene ENSMUSG00000046259
Gene Name small proline-rich protein 2H
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R8034 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 92385685-92387324 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92386813 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 61 (E61V)
Ref Sequence ENSEMBL: ENSMUSP00000053849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059845] [ENSMUST00000191886]
AlphaFold O70559
Predicted Effect unknown
Transcript: ENSMUST00000059845
AA Change: E61V
SMART Domains Protein: ENSMUSP00000053849
Gene: ENSMUSG00000046259
AA Change: E61V

DomainStartEndE-ValueType
Pfam:SPRR2 2 56 7.4e-18 PFAM
Pfam:SPRR2 51 105 2.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191886
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 A G 7: 101,394,773 T680A probably damaging Het
Asb3 C A 11: 31,081,554 Y391* probably null Het
BC067074 A T 13: 113,342,511 I1530F Het
Bean1 CT C 8: 104,182,032 probably null Het
C130026I21Rik T A 1: 85,254,160 T180S probably benign Het
Ccdc80 A G 16: 45,122,875 I783V probably damaging Het
Ccnf A G 17: 24,231,831 V391A probably damaging Het
Cd5l C A 3: 87,365,964 A80E possibly damaging Het
Chmp2b A T 16: 65,546,883 M96K probably benign Het
Dennd4a T C 9: 64,888,568 S725P probably benign Het
Dnah6 T C 6: 73,129,225 N1843S probably damaging Het
Dpy19l3 A G 7: 35,749,856 F41L probably benign Het
Eif3e A T 15: 43,272,307 M112K probably benign Het
Faim T C 9: 98,992,733 V111A possibly damaging Het
Fat1 A G 8: 44,951,691 E493G probably benign Het
Fsip2 A G 2: 82,989,355 D5144G possibly damaging Het
Fuz T C 7: 44,896,260 M1T probably null Het
Ggcx T C 6: 72,428,604 V529A possibly damaging Het
Gm7145 A T 1: 117,986,164 T259S probably benign Het
Gria2 T G 3: 80,801,699 T59P probably damaging Het
H2-Q10 A T 17: 35,470,441 I47F probably damaging Het
Heatr6 A G 11: 83,753,909 N63D probably benign Het
Ints7 CCGGATCG CCGGATCGGATCG 1: 191,613,068 probably null Het
Ints7 GATCG GATCGTATCG 1: 191,613,071 probably null Het
Lcn6 T A 2: 25,676,871 L19* probably null Het
Lhcgr T C 17: 88,742,356 T581A probably damaging Het
Map4k1 T C 7: 28,988,148 I203T probably damaging Het
Mctp1 G C 13: 76,891,551 L783F probably damaging Het
Mlf1 A T 3: 67,384,588 M29L probably damaging Het
Npas3 T A 12: 53,640,529 I159N probably damaging Het
Nup98 T C 7: 102,145,723 probably null Het
Olfr1238 A G 2: 89,406,737 V114A probably benign Het
Olfr1464-ps1 A G 19: 13,282,851 F69S probably damaging Het
Olfr572 A T 7: 102,928,566 K313* probably null Het
Olfr734 T C 14: 50,320,566 K90E probably damaging Het
Olfr867 A G 9: 20,055,005 F35L probably benign Het
Olfr890 T C 9: 38,143,677 Y176H probably damaging Het
Otud3 T C 4: 138,895,800 S377G probably benign Het
Pclo T A 5: 14,521,200 S200T probably damaging Het
Pex6 G C 17: 46,722,399 G616A possibly damaging Het
Pkhd1 T A 1: 20,381,438 H2211L possibly damaging Het
Sec13 T C 6: 113,735,089 K95R probably benign Het
Sema3c T C 5: 17,727,482 V661A probably damaging Het
Sema5a A G 15: 32,574,841 Y365C probably damaging Het
Tead3 A C 17: 28,333,229 V365G probably damaging Het
Trpm7 T A 2: 126,846,199 N236I probably damaging Het
Ubxn2b A G 4: 6,191,167 E13G probably benign Het
Zfp639 C A 3: 32,520,066 A280E probably damaging Het
Other mutations in Sprr2h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Sprr2h APN 3 92386951 missense unknown
R1869:Sprr2h UTSW 3 92386618 start gained probably benign
R6208:Sprr2h UTSW 3 92386909 missense unknown
Predicted Primers PCR Primer
(F):5'- GTCTTACCAACAGCAGCAGTG -3'
(R):5'- CCATGAATGGCTTTGGAGGG -3'

Sequencing Primer
(F):5'- CAGCAGTGCAAGCAGCC -3'
(R):5'- GGAAGTACATGAGATGGATACTCTTC -3'
Posted On 2020-01-23