Incidental Mutation 'IGL02412:Cr1l'
ID 294399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cr1l
Ensembl Gene ENSMUSG00000016481
Gene Name complement C3b/C4b receptor 1 like
Synonyms Crry, mCRY
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02412
Quality Score
Status
Chromosome 1
Chromosomal Location 194781019-194813878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 194797080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 319 (Y319S)
Ref Sequence ENSEMBL: ENSMUSP00000074902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075451] [ENSMUST00000191775] [ENSMUST00000193094] [ENSMUST00000194062] [ENSMUST00000194111]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075451
AA Change: Y319S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: Y319S

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
CCP 42 98 3.51e-6 SMART
CCP 103 160 1.61e-14 SMART
CCP 165 231 7.92e-14 SMART
CCP 237 293 5.23e-14 SMART
CCP 299 355 6.69e-12 SMART
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191775
SMART Domains Protein: ENSMUSP00000141250
Gene: ENSMUSG00000016481

DomainStartEndE-ValueType
Pfam:Sushi 1 38 9e-6 PFAM
CCP 43 100 8e-17 SMART
CCP 105 171 3.9e-16 SMART
CCP 177 233 2.6e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193094
AA Change: Y319S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: Y319S

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
CCP 42 98 1.7e-8 SMART
CCP 103 160 8e-17 SMART
CCP 165 231 3.9e-16 SMART
CCP 237 293 2.6e-16 SMART
CCP 299 355 3.3e-14 SMART
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000194062
AA Change: Y78S

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142104
Gene: ENSMUSG00000016481
AA Change: Y78S

DomainStartEndE-ValueType
CCP 1 52 2.9e-9 SMART
CCP 58 114 3.3e-14 SMART
transmembrane domain 123 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194111
AA Change: Y281S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: Y281S

DomainStartEndE-ValueType
CCP 4 60 1.7e-8 SMART
CCP 65 122 8e-17 SMART
CCP 127 193 3.9e-16 SMART
CCP 199 255 2.6e-16 SMART
CCP 261 317 3.3e-14 SMART
transmembrane domain 326 348 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195586
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die by E16.5 with abnormal C3 deposition. Mice homozygous for a null allele activated in single positive thymocytes exhibit T cell lymphopenia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,605,854 (GRCm39) F2032L possibly damaging Het
Caps2 T C 10: 112,039,941 (GRCm39) probably null Het
Ccdc88b A T 19: 6,824,012 (GRCm39) F1414I probably damaging Het
Csmd2 G A 4: 128,407,165 (GRCm39) probably benign Het
Dhx37 T A 5: 125,508,692 (GRCm39) K81M probably damaging Het
Dzip3 T A 16: 48,778,820 (GRCm39) M326L probably benign Het
Exosc10 A G 4: 148,652,849 (GRCm39) D488G probably benign Het
Gm2058 G A 7: 39,238,457 (GRCm39) noncoding transcript Het
Gm43638 T A 5: 87,633,995 (GRCm39) Q204L possibly damaging Het
Gm4847 T C 1: 166,469,307 (GRCm39) D119G probably damaging Het
Gnb3 A C 6: 124,814,425 (GRCm39) M120R probably benign Het
Il16 A C 7: 83,301,899 (GRCm39) D74E probably benign Het
Kpna1 T C 16: 35,851,561 (GRCm39) F382L probably benign Het
Krt33a G T 11: 99,902,805 (GRCm39) Q340K probably benign Het
Lrrc17 T A 5: 21,765,877 (GRCm39) S120T possibly damaging Het
Mapk3 C A 7: 126,362,210 (GRCm39) Y56* probably null Het
Mfhas1 C T 8: 36,055,969 (GRCm39) A148V probably benign Het
Npr2 A G 4: 43,647,005 (GRCm39) I713V probably damaging Het
Obp1a T A X: 77,131,980 (GRCm39) Y108F probably damaging Het
Or51f1d A T 7: 102,701,359 (GRCm39) M285L probably benign Het
Or5ac21 T A 16: 59,123,555 (GRCm39) L13H probably damaging Het
Or6n1 T C 1: 173,916,809 (GRCm39) F68L probably benign Het
Or7e178 T A 9: 20,225,935 (GRCm39) S86C probably benign Het
Pias1 A T 9: 62,800,421 (GRCm39) N430K probably benign Het
Ralgapa2 G T 2: 146,254,052 (GRCm39) A836D probably damaging Het
Rftn2 T C 1: 55,245,497 (GRCm39) E238G probably benign Het
Samt4 T G X: 153,267,118 (GRCm39) S86A probably damaging Het
Setd2 T C 9: 110,379,842 (GRCm39) M1219T probably benign Het
Sh3pxd2b T A 11: 32,337,992 (GRCm39) D99E probably damaging Het
Sh3rf1 A T 8: 61,825,723 (GRCm39) T573S probably benign Het
Sugct A G 13: 17,837,386 (GRCm39) W82R probably damaging Het
Syt4 T G 18: 31,576,896 (GRCm39) K153Q probably benign Het
Tbrg1 T C 9: 37,563,908 (GRCm39) probably null Het
Tex36 C T 7: 133,189,137 (GRCm39) R145K probably benign Het
Tfap2b A T 1: 19,289,427 (GRCm39) D166V probably damaging Het
Trhde T C 10: 114,322,830 (GRCm39) Y694C probably damaging Het
Trpc1 G A 9: 95,618,914 (GRCm39) L146F probably damaging Het
Ttc29 G A 8: 79,003,569 (GRCm39) E262K possibly damaging Het
Ttn A T 2: 76,547,293 (GRCm39) I32251N probably damaging Het
Ttn G T 2: 76,612,691 (GRCm39) D17129E probably benign Het
Ucma T A 2: 4,981,636 (GRCm39) I47N probably damaging Het
Vmn1r13 A T 6: 57,187,474 (GRCm39) K211M possibly damaging Het
Vmn2r95 A C 17: 18,660,218 (GRCm39) H210P probably damaging Het
Xpc T C 6: 91,476,767 (GRCm39) E444G probably benign Het
Yy1 T C 12: 108,760,023 (GRCm39) probably benign Het
Zfp217 A G 2: 169,954,422 (GRCm39) probably benign Het
Zfp318 T A 17: 46,720,043 (GRCm39) Y1080* probably null Het
Other mutations in Cr1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Cr1l APN 1 194,812,189 (GRCm39) missense possibly damaging 0.86
IGL01988:Cr1l APN 1 194,799,858 (GRCm39) missense probably damaging 1.00
IGL02412:Cr1l APN 1 194,797,074 (GRCm39) missense probably damaging 1.00
IGL02707:Cr1l APN 1 194,806,019 (GRCm39) missense probably benign 0.03
IGL02726:Cr1l APN 1 194,812,188 (GRCm39) missense probably damaging 1.00
R0105:Cr1l UTSW 1 194,794,720 (GRCm39) splice site probably benign
R0153:Cr1l UTSW 1 194,797,164 (GRCm39) splice site probably benign
R0302:Cr1l UTSW 1 194,800,101 (GRCm39) missense probably damaging 0.99
R1444:Cr1l UTSW 1 194,813,510 (GRCm39) missense probably damaging 0.99
R1760:Cr1l UTSW 1 194,797,123 (GRCm39) missense probably benign 0.01
R2402:Cr1l UTSW 1 194,789,210 (GRCm39) missense probably benign 0.04
R4583:Cr1l UTSW 1 194,812,139 (GRCm39) missense probably damaging 0.97
R5977:Cr1l UTSW 1 194,797,076 (GRCm39) nonsense probably null
R6113:Cr1l UTSW 1 194,813,719 (GRCm39) unclassified probably benign
R6324:Cr1l UTSW 1 194,793,430 (GRCm39) missense probably benign 0.07
R6424:Cr1l UTSW 1 194,800,123 (GRCm39) missense probably damaging 1.00
R7082:Cr1l UTSW 1 194,806,006 (GRCm39) missense probably benign 0.36
R7174:Cr1l UTSW 1 194,811,497 (GRCm39) missense probably benign 0.00
R7199:Cr1l UTSW 1 194,799,878 (GRCm39) missense probably benign 0.20
R7979:Cr1l UTSW 1 194,800,030 (GRCm39) missense probably damaging 1.00
R8104:Cr1l UTSW 1 194,799,925 (GRCm39) missense possibly damaging 0.80
R8958:Cr1l UTSW 1 194,812,243 (GRCm39) missense probably damaging 1.00
R9091:Cr1l UTSW 1 194,789,204 (GRCm39) missense possibly damaging 0.82
R9124:Cr1l UTSW 1 194,799,925 (GRCm39) missense possibly damaging 0.80
R9185:Cr1l UTSW 1 194,797,053 (GRCm39) missense probably damaging 1.00
R9199:Cr1l UTSW 1 194,786,177 (GRCm39) missense probably benign 0.00
R9265:Cr1l UTSW 1 194,806,027 (GRCm39) missense probably benign 0.24
R9270:Cr1l UTSW 1 194,789,204 (GRCm39) missense possibly damaging 0.82
R9681:Cr1l UTSW 1 194,800,149 (GRCm39) missense probably damaging 0.97
X0020:Cr1l UTSW 1 194,812,161 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16