Incidental Mutation 'R7731:Sprr2b'
ID 595811
Institutional Source Beutler Lab
Gene Symbol Sprr2b
Ensembl Gene ENSMUSG00000050092
Gene Name small proline-rich protein 2B
Synonyms
MMRRC Submission 045787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7731 (G1)
Quality Score 214.458
Status Not validated
Chromosome 3
Chromosomal Location 92224012-92225448 bp(+) (GRCm39)
Type of Mutation small deletion (18 aa in frame mutation)
DNA Base Change (assembly) CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC to CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC at 92224826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061038]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000061038
SMART Domains Protein: ENSMUSP00000058131
Gene: ENSMUSG00000050092

DomainStartEndE-ValueType
Pfam:SPRR2 2 51 2.9e-22 PFAM
Pfam:SPRR2 44 95 2.5e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,470 (GRCm39) E210G possibly damaging Het
Accsl T C 2: 93,691,363 (GRCm39) T372A probably benign Het
Adgrf5 T A 17: 43,761,451 (GRCm39) S1049T probably damaging Het
Agmo G A 12: 37,464,939 (GRCm39) R405K probably benign Het
Akap3 A G 6: 126,842,031 (GRCm39) T217A probably benign Het
Ankfy1 T A 11: 72,603,107 (GRCm39) N45K probably benign Het
Ankrd11 G A 8: 123,622,172 (GRCm39) T560I probably benign Het
Aqp1 T C 6: 55,322,804 (GRCm39) Y186H possibly damaging Het
Arhgef18 G A 8: 3,434,936 (GRCm39) V194M probably damaging Het
Arnt T C 3: 95,391,086 (GRCm39) V320A probably benign Het
B230217C12Rik T C 11: 97,732,226 (GRCm39) L2P unknown Het
Bco1 C A 8: 117,857,807 (GRCm39) S477R possibly damaging Het
Brd4 A G 17: 32,430,198 (GRCm39) S703P possibly damaging Het
Ceacam3 T A 7: 16,892,275 (GRCm39) N339K Het
Cebpb A G 2: 167,531,126 (GRCm39) D62G probably damaging Het
Clca4a T C 3: 144,658,546 (GRCm39) I890V probably benign Het
Cyp2d9 A G 15: 82,339,633 (GRCm39) probably null Het
Cyth1 T C 11: 118,059,879 (GRCm39) T374A possibly damaging Het
Dennd3 A T 15: 73,434,216 (GRCm39) H962L probably damaging Het
Dhtkd1 T G 2: 5,928,923 (GRCm39) L249F probably benign Het
Dnah7b T A 1: 46,178,905 (GRCm39) H859Q probably benign Het
E2f4 A G 8: 106,025,265 (GRCm39) D115G probably damaging Het
Eif4a3l1 A G 6: 136,305,871 (GRCm39) I111V probably benign Het
Exoc3l4 G C 12: 111,397,182 (GRCm39) D688H possibly damaging Het
Fan1 C T 7: 64,022,444 (GRCm39) V270I probably benign Het
Fat2 A T 11: 55,201,532 (GRCm39) I514N probably damaging Het
Fndc1 G A 17: 7,992,271 (GRCm39) T475I unknown Het
Fstl5 T A 3: 76,569,069 (GRCm39) I574N probably damaging Het
Fzd4 T C 7: 89,057,258 (GRCm39) V435A possibly damaging Het
Fzd6 T C 15: 38,897,327 (GRCm39) F492S probably damaging Het
Gm4924 T A 10: 82,213,361 (GRCm39) N386K unknown Het
Hbp1 A T 12: 31,983,367 (GRCm39) D362E possibly damaging Het
Hectd4 A C 5: 121,445,077 (GRCm39) M105L probably benign Het
Hivep2 C T 10: 14,025,458 (GRCm39) P2424L probably benign Het
Hspa4 A T 11: 53,157,791 (GRCm39) probably null Het
Igf2bp3 A G 6: 49,111,665 (GRCm39) V122A probably damaging Het
Ikzf2 A T 1: 69,578,302 (GRCm39) N402K possibly damaging Het
Ip6k1 T C 9: 107,921,927 (GRCm39) F207S probably damaging Het
Kbtbd8 C A 6: 95,095,559 (GRCm39) N24K probably benign Het
Krtap10-4 T G 10: 77,662,654 (GRCm39) T75P unknown Het
Macf1 C A 4: 123,338,672 (GRCm39) S4355I probably benign Het
Muc5b A T 7: 141,411,042 (GRCm39) probably null Het
Myo3a G A 2: 22,287,400 (GRCm39) V179M probably damaging Het
Nup210 G T 6: 91,048,870 (GRCm39) T462K possibly damaging Het
Or11g27 T A 14: 50,771,141 (GRCm39) S91T probably damaging Het
Or1l4 A G 2: 37,091,561 (GRCm39) M103V probably benign Het
Or51f5 A G 7: 102,424,141 (GRCm39) I137V probably benign Het
Or5j1 T C 2: 86,879,578 (GRCm39) M1V probably null Het
Or8b53 A G 9: 38,667,542 (GRCm39) Q186R possibly damaging Het
Ostn G A 16: 27,165,668 (GRCm39) R119Q probably damaging Het
Pcdhga11 A T 18: 37,889,564 (GRCm39) N191Y probably benign Het
Pcsk6 A T 7: 65,683,641 (GRCm39) Q752L probably benign Het
Pfas T C 11: 68,890,871 (GRCm39) T347A probably damaging Het
Pkd1 A T 17: 24,792,872 (GRCm39) R1520W probably damaging Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Prpf8 T C 11: 75,399,732 (GRCm39) S2264P probably damaging Het
Ptcd1 C A 5: 145,088,174 (GRCm39) R612S probably benign Het
Ptch2 T A 4: 116,965,492 (GRCm39) F359Y probably benign Het
Ptprr A C 10: 116,073,200 (GRCm39) D474A probably damaging Het
Pum1 C A 4: 130,490,274 (GRCm39) Q846K probably benign Het
Slc22a14 C T 9: 118,999,677 (GRCm39) A505T possibly damaging Het
Smpdl3a A G 10: 57,678,650 (GRCm39) Y151C probably damaging Het
Snrnp200 A G 2: 127,071,022 (GRCm39) N1101S probably benign Het
Sptlc1 A G 13: 53,487,993 (GRCm39) V450A probably benign Het
Sqle A G 15: 59,187,821 (GRCm39) Y43C probably benign Het
Srgap3 T C 6: 112,743,858 (GRCm39) H460R probably benign Het
Syt15 A T 14: 33,945,024 (GRCm39) E190D possibly damaging Het
Tbc1d10b T C 7: 126,797,993 (GRCm39) K716R probably benign Het
Tbx20 T C 9: 24,681,993 (GRCm39) I120M probably damaging Het
Tgm1 T G 14: 55,947,978 (GRCm39) I274L probably benign Het
Tmem156 C T 5: 65,232,905 (GRCm39) probably null Het
Tnk2 A G 16: 32,488,952 (GRCm39) D264G possibly damaging Het
Tsc22d4 A G 5: 137,756,956 (GRCm39) S306G possibly damaging Het
Tut1 T A 19: 8,936,626 (GRCm39) V150D probably benign Het
Uchl5 T C 1: 143,670,275 (GRCm39) F143L Het
Vmn1r23 T C 6: 57,903,319 (GRCm39) K153R probably benign Het
Zfp236 A T 18: 82,698,798 (GRCm39) D94E probably benign Het
Zfp759 T C 13: 67,287,690 (GRCm39) Y414H possibly damaging Het
Other mutations in Sprr2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5115:Sprr2b UTSW 3 92,224,862 (GRCm39) missense unknown
R5236:Sprr2b UTSW 3 92,224,943 (GRCm39) missense unknown
R7038:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
R7575:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
R7654:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
R7860:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
R8408:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
R8743:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
R8807:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
R8919:Sprr2b UTSW 3 92,225,032 (GRCm39) missense unknown
R9050:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
R9574:Sprr2b UTSW 3 92,224,826 (GRCm39) small deletion probably benign
RF040:Sprr2b UTSW 3 92,224,871 (GRCm39) frame shift probably null
RF059:Sprr2b UTSW 3 92,224,875 (GRCm39) small deletion probably benign
Z1176:Sprr2b UTSW 3 92,224,976 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTGCATGCCCACATAGGTACAC -3'
(R):5'- TGGACACTTCTGCTGGCATG -3'

Sequencing Primer
(F):5'- ACACAGGGTTCTACAGTTCG -3'
(R):5'- CTGGCATGGTGGAAATTGCAC -3'
Posted On 2019-11-12