Incidental Mutation 'R7626:Crip3'
ID 589472
Institutional Source Beutler Lab
Gene Symbol Crip3
Ensembl Gene ENSMUSG00000023968
Gene Name cysteine-rich protein 3
Synonyms TLP-A, TLP
MMRRC Submission 045690-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7626 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46739852-46742702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46740791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 65 (R65S)
Ref Sequence ENSEMBL: ENSMUSP00000109092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024764] [ENSMUST00000087012] [ENSMUST00000113465] [ENSMUST00000165993]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024764
AA Change: R65S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000024764
Gene: ENSMUSG00000023968
AA Change: R65S

DomainStartEndE-ValueType
LIM 4 56 9.54e-12 SMART
LIM 123 175 2.19e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087012
SMART Domains Protein: ENSMUSP00000084234
Gene: ENSMUSG00000067144

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:MFS_1 82 479 1.2e-32 PFAM
Pfam:Sugar_tr 86 524 2.5e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113465
AA Change: R65S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109092
Gene: ENSMUSG00000023968
AA Change: R65S

DomainStartEndE-ValueType
LIM 4 56 9.54e-12 SMART
LIM 123 175 2.19e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165993
AA Change: R65S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130072
Gene: ENSMUSG00000023968
AA Change: R65S

DomainStartEndE-ValueType
LIM 4 56 9.54e-12 SMART
LIM 123 175 2.19e-11 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Homozygous mutant mice exhibit a decrease in thymocyte cellularity, though thymocyte development and thymic architecture appear to be normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Alox5 T C 6: 116,390,756 (GRCm39) D465G possibly damaging Het
Arhgef16 T A 4: 154,367,339 (GRCm39) K355N possibly damaging Het
Camkk2 T A 5: 122,902,363 (GRCm39) probably benign Het
Ccdc171 C T 4: 83,499,012 (GRCm39) Q237* probably null Het
Ces2b T C 8: 105,564,017 (GRCm39) Y464H possibly damaging Het
Cntfr A G 4: 41,662,013 (GRCm39) F243S possibly damaging Het
Dcn A G 10: 97,319,340 (GRCm39) Y39C possibly damaging Het
Degs2 T C 12: 108,658,332 (GRCm39) S216G possibly damaging Het
Dmxl1 A G 18: 50,035,861 (GRCm39) I2295V probably benign Het
Dnah2 A G 11: 69,389,511 (GRCm39) S794P probably damaging Het
Eri1 A C 8: 35,941,554 (GRCm39) Y264* probably null Het
Etl4 T C 2: 20,718,189 (GRCm39) L179P probably damaging Het
F5 T G 1: 164,014,481 (GRCm39) M584R possibly damaging Het
Fam98c G T 7: 28,852,248 (GRCm39) R104S probably damaging Het
Flad1 A T 3: 89,310,718 (GRCm39) I443N probably benign Het
Hbp1 T C 12: 31,993,899 (GRCm39) E43G probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Kcnj3 T A 2: 55,484,833 (GRCm39) C310* probably null Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Loxhd1 T C 18: 77,518,882 (GRCm39) V1896A possibly damaging Het
Lrfn4 C A 19: 4,663,679 (GRCm39) R285L probably damaging Het
Ltb4r2 T A 14: 56,000,338 (GRCm39) S320T probably damaging Het
Mmd G T 11: 90,148,378 (GRCm39) R20L probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nbas T C 12: 13,608,661 (GRCm39) S2146P probably benign Het
Nop14 A G 5: 34,809,135 (GRCm39) F319L probably damaging Het
Numa1 C A 7: 101,648,630 (GRCm39) T787K probably benign Het
Or10q12 T G 19: 13,745,709 (GRCm39) M1R probably null Het
Or2t46 A C 11: 58,471,999 (GRCm39) T110P probably damaging Het
Or6c208 T G 10: 129,223,726 (GRCm39) C75G possibly damaging Het
Patj T C 4: 98,435,224 (GRCm39) V2A probably benign Het
Pisd T C 5: 32,898,032 (GRCm39) H52R probably benign Het
Plekhg6 A T 6: 125,340,631 (GRCm39) D576E probably benign Het
Plekhn1 T A 4: 156,310,110 (GRCm39) H68L probably benign Het
Ppp1r37 T A 7: 19,295,778 (GRCm39) I60F probably damaging Het
Ppp2r1b C T 9: 50,789,476 (GRCm39) T513M possibly damaging Het
Pramel32 A T 4: 88,548,279 (GRCm39) I42N probably damaging Het
Rhobtb2 C A 14: 70,034,386 (GRCm39) A280S probably damaging Het
Rnf40 A G 7: 127,189,047 (GRCm39) D140G probably benign Het
Rxfp1 A G 3: 79,555,397 (GRCm39) L653P probably damaging Het
Satb1 A T 17: 52,074,995 (GRCm39) D500E probably benign Het
Slc15a1 A T 14: 121,713,377 (GRCm39) D383E probably benign Het
Smarcad1 C A 6: 65,073,033 (GRCm39) S604R possibly damaging Het
St7 A G 6: 17,934,216 (GRCm39) T533A probably damaging Het
Sv2c T A 13: 96,122,451 (GRCm39) T442S probably benign Het
Tbx2 A G 11: 85,731,622 (GRCm39) T640A probably benign Het
Tenm4 T A 7: 96,542,221 (GRCm39) N1948K probably damaging Het
Tll1 T C 8: 64,551,268 (GRCm39) probably null Het
Tmem135 A T 7: 88,805,718 (GRCm39) probably null Het
Tonsl A T 15: 76,518,136 (GRCm39) L582Q probably null Het
Unc13c T A 9: 73,641,799 (GRCm39) K1231N probably damaging Het
Vmn2r101 T A 17: 19,832,192 (GRCm39) Y729* probably null Het
Zcchc2 A G 1: 105,928,742 (GRCm39) T334A possibly damaging Het
Zfp655 T C 5: 145,173,917 (GRCm39) L136P probably damaging Het
Zfp729a A T 13: 67,768,437 (GRCm39) C597* probably null Het
Other mutations in Crip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0023:Crip3 UTSW 17 46,741,920 (GRCm39) missense probably damaging 0.97
R1476:Crip3 UTSW 17 46,741,702 (GRCm39) splice site probably benign
R2197:Crip3 UTSW 17 46,740,338 (GRCm39) missense probably damaging 1.00
R2255:Crip3 UTSW 17 46,740,298 (GRCm39) missense probably damaging 1.00
R4239:Crip3 UTSW 17 46,742,156 (GRCm39) nonsense probably null
R4668:Crip3 UTSW 17 46,740,290 (GRCm39) missense probably damaging 1.00
R4786:Crip3 UTSW 17 46,741,968 (GRCm39) missense possibly damaging 0.77
R4858:Crip3 UTSW 17 46,741,673 (GRCm39) intron probably benign
R5996:Crip3 UTSW 17 46,742,210 (GRCm39) missense possibly damaging 0.46
R6560:Crip3 UTSW 17 46,741,962 (GRCm39) missense probably damaging 1.00
R7084:Crip3 UTSW 17 46,741,716 (GRCm39) missense probably benign
R9081:Crip3 UTSW 17 46,740,959 (GRCm39) missense probably benign 0.12
X0067:Crip3 UTSW 17 46,740,753 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- AATTGGACACGCTAGCCTACC -3'
(R):5'- CTAAAGTTGCTGGGGCTGAG -3'

Sequencing Primer
(F):5'- TACAAGATCCATCAGACTAGCTG -3'
(R):5'- CTGAGGGAAATGCGGCTG -3'
Posted On 2019-10-24