Incidental Mutation 'IGL02412:Cr1l'
ID294403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cr1l
Ensembl Gene ENSMUSG00000016481
Gene Namecomplement component (3b/4b) receptor 1-like
SynonymsmCRY, Crry
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02412
Quality Score
Status
Chromosome1
Chromosomal Location195097382-195131586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 195114766 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 283 (G283E)
Ref Sequence ENSEMBL: ENSMUSP00000142069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075451] [ENSMUST00000191775] [ENSMUST00000193094] [ENSMUST00000194062] [ENSMUST00000194111]
Predicted Effect probably damaging
Transcript: ENSMUST00000075451
AA Change: G321E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074902
Gene: ENSMUSG00000016481
AA Change: G321E

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 damaging
Transcript: ENSMUST00000193094
AA Change: G321E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142309
Gene: ENSMUSG00000016481
AA Change: G321E

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 probably damaging
Transcript: ENSMUST00000194062
AA Change: G80E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142104
Gene: ENSMUSG00000016481
AA Change: G80E

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 damaging
Transcript: ENSMUST00000194111
AA Change: G283E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142069
Gene: ENSMUSG00000016481
AA Change: G283E

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: 85,628,872 F2032L possibly damaging Het
Caps2 T C 10: 112,204,036 probably null Het
Ccdc88b A T 19: 6,846,644 F1414I probably damaging Het
Csmd2 G A 4: 128,513,372 probably benign Het
Dhx37 T A 5: 125,431,628 K81M probably damaging Het
Dzip3 T A 16: 48,958,457 M326L probably benign Het
Exosc10 A G 4: 148,568,392 D488G probably benign Het
Gm2058 G A 7: 39,589,033 noncoding transcript Het
Gm43638 T A 5: 87,486,136 Q204L possibly damaging Het
Gm4847 T C 1: 166,641,738 D119G probably damaging Het
Gnb3 A C 6: 124,837,462 M120R probably benign Het
Il16 A C 7: 83,652,691 D74E probably benign Het
Kpna1 T C 16: 36,031,191 F382L probably benign Het
Krt33a G T 11: 100,011,979 Q340K probably benign Het
Lrrc17 T A 5: 21,560,879 S120T possibly damaging Het
Mapk3 C A 7: 126,763,038 Y56* probably null Het
Mfhas1 C T 8: 35,588,815 A148V probably benign Het
Npr2 A G 4: 43,647,005 I713V probably damaging Het
Obp1a T A X: 78,088,374 Y108F probably damaging Het
Olfr18 T A 9: 20,314,639 S86C probably benign Het
Olfr203 T A 16: 59,303,192 L13H probably damaging Het
Olfr429 T C 1: 174,089,243 F68L probably benign Het
Olfr583 A T 7: 103,052,152 M285L probably benign Het
Pias1 A T 9: 62,893,139 N430K probably benign Het
Ralgapa2 G T 2: 146,412,132 A836D probably damaging Het
Rftn2 T C 1: 55,206,338 E238G probably benign Het
Samt4 T G X: 154,484,122 S86A probably damaging Het
Setd2 T C 9: 110,550,774 M1219T probably benign Het
Sh3pxd2b T A 11: 32,387,992 D99E probably damaging Het
Sh3rf1 A T 8: 61,372,689 T573S probably benign Het
Sugct A G 13: 17,662,801 W82R probably damaging Het
Syt4 T G 18: 31,443,843 K153Q probably benign Het
Tbrg1 T C 9: 37,652,612 probably null Het
Tex36 C T 7: 133,587,408 R145K probably benign Het
Tfap2b A T 1: 19,219,203 D166V probably damaging Het
Trhde T C 10: 114,486,925 Y694C probably damaging Het
Trpc1 G A 9: 95,736,861 L146F probably damaging Het
Ttc29 G A 8: 78,276,940 E262K possibly damaging Het
Ttn G T 2: 76,782,347 D17129E probably benign Het
Ttn A T 2: 76,716,949 I32251N probably damaging Het
Ucma T A 2: 4,976,825 I47N probably damaging Het
Vmn1r13 A T 6: 57,210,489 K211M possibly damaging Het
Vmn2r95 A C 17: 18,439,956 H210P probably damaging Het
Xpc T C 6: 91,499,785 E444G probably benign Het
Yy1 T C 12: 108,794,097 probably benign Het
Zfp217 A G 2: 170,112,502 probably benign Het
Zfp318 T A 17: 46,409,117 Y1080* probably null Het
Other mutations in Cr1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Cr1l APN 1 195129881 missense possibly damaging 0.86
IGL01988:Cr1l APN 1 195117550 missense probably damaging 1.00
IGL02412:Cr1l APN 1 195114772 missense probably damaging 0.97
IGL02707:Cr1l APN 1 195123711 missense probably benign 0.03
IGL02726:Cr1l APN 1 195129880 missense probably damaging 1.00
R0105:Cr1l UTSW 1 195112412 splice site probably benign
R0153:Cr1l UTSW 1 195114856 splice site probably benign
R0302:Cr1l UTSW 1 195117793 missense probably damaging 0.99
R1444:Cr1l UTSW 1 195131202 missense probably damaging 0.99
R1760:Cr1l UTSW 1 195114815 missense probably benign 0.01
R2402:Cr1l UTSW 1 195106902 missense probably benign 0.04
R4583:Cr1l UTSW 1 195129831 missense probably damaging 0.97
R5977:Cr1l UTSW 1 195114768 nonsense probably null
R6113:Cr1l UTSW 1 195131411 unclassified probably benign
R6324:Cr1l UTSW 1 195111122 missense probably benign 0.07
R6424:Cr1l UTSW 1 195117815 missense probably damaging 1.00
R7082:Cr1l UTSW 1 195123698 missense probably benign 0.36
R7174:Cr1l UTSW 1 195129189 missense probably benign 0.00
R7199:Cr1l UTSW 1 195117570 missense probably benign 0.20
X0020:Cr1l UTSW 1 195129853 missense probably damaging 1.00
Posted On2015-04-16