Incidental Mutation 'IGL03188:Gprin1'
ID412531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gprin1
Ensembl Gene ENSMUSG00000069227
Gene NameG protein-regulated inducer of neurite outgrowth 1
SynonymsGRIN1, Z16
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03188
Quality Score
Status
Chromosome13
Chromosomal Location54736671-54749874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54738652 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 603 (D603G)
Ref Sequence ENSEMBL: ENSMUSP00000115539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]
Predicted Effect probably benign
Transcript: ENSMUST00000037145
SMART Domains Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
CA 48 122 8.62e-15 SMART
CA 146 239 1.4e-2 SMART
CA 263 351 2.19e-16 SMART
CA 391 478 4.22e-9 SMART
CA 503 584 2.15e-24 SMART
CA 605 693 6.78e-22 SMART
CA 715 805 1.78e-16 SMART
CA 830 925 7.57e-11 SMART
CA 950 1042 7.1e-2 SMART
low complexity region 1121 1147 N/A INTRINSIC
transmembrane domain 1153 1175 N/A INTRINSIC
low complexity region 1195 1209 N/A INTRINSIC
low complexity region 1234 1250 N/A INTRINSIC
low complexity region 1264 1277 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099506
AA Change: D603G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: D603G

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
internal_repeat_1 80 256 2.14e-7 PROSPERO
internal_repeat_2 95 267 4.89e-7 PROSPERO
low complexity region 314 324 N/A INTRINSIC
low complexity region 424 443 N/A INTRINSIC
internal_repeat_2 448 620 4.89e-7 PROSPERO
internal_repeat_1 457 643 2.14e-7 PROSPERO
low complexity region 684 703 N/A INTRINSIC
low complexity region 758 773 N/A INTRINSIC
Pfam:GRIN_C 790 929 4.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135343
AA Change: D603G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: D603G

DomainStartEndE-ValueType
low complexity region 31 43 N/A INTRINSIC
internal_repeat_1 80 256 2.14e-7 PROSPERO
internal_repeat_2 95 267 4.89e-7 PROSPERO
low complexity region 314 324 N/A INTRINSIC
low complexity region 424 443 N/A INTRINSIC
internal_repeat_2 448 620 4.89e-7 PROSPERO
internal_repeat_1 457 643 2.14e-7 PROSPERO
low complexity region 684 703 N/A INTRINSIC
low complexity region 758 773 N/A INTRINSIC
Pfam:GRIN_C 787 932 2.6e-49 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,971,225 Y186C possibly damaging Het
Adamts18 C A 8: 113,699,024 C1202F probably damaging Het
Ago2 C T 15: 73,123,333 V466I probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aptx A T 4: 40,695,143 probably null Het
Aurka A T 2: 172,363,768 D123E possibly damaging Het
AW549877 A G 15: 3,988,705 Y163H probably damaging Het
Btaf1 T C 19: 36,949,108 I60T possibly damaging Het
Ccdc154 A T 17: 25,164,093 probably null Het
Cct5 T C 15: 31,598,002 N55S probably benign Het
Cntnap3 A G 13: 64,781,745 S547P probably damaging Het
Efl1 T A 7: 82,671,701 I114N probably damaging Het
Il16 A G 7: 83,688,163 S115P probably benign Het
Kalrn C A 16: 34,314,192 V401L probably benign Het
Kcnq4 T A 4: 120,704,426 K482I possibly damaging Het
L3mbtl3 C T 10: 26,342,617 A114T unknown Het
Lig1 G A 7: 13,311,107 probably benign Het
Lnx1 G A 5: 74,620,263 T199M probably damaging Het
Mapk13 A G 17: 28,776,583 probably benign Het
Mfsd2b A T 12: 4,866,538 probably null Het
Mrpl3 A G 9: 105,057,065 D137G probably benign Het
Muc15 A G 2: 110,731,699 D160G probably benign Het
Myh4 T C 11: 67,246,543 probably null Het
Nipa2 T G 7: 55,932,932 N355T probably benign Het
Olfr1396 T C 11: 49,113,709 N6D probably damaging Het
Olfr484 T C 7: 108,124,634 T210A probably benign Het
Olfr644 A G 7: 104,068,738 S98P possibly damaging Het
Olfr749 A T 14: 50,736,858 Y101* probably null Het
Pfkm G T 15: 98,123,243 probably null Het
Ppip5k1 A G 2: 121,326,846 probably benign Het
Ppp1r18 A G 17: 35,867,965 D244G possibly damaging Het
Scn2a T C 2: 65,671,653 S107P probably damaging Het
Scn5a A T 9: 119,522,566 I783N probably damaging Het
Snx1 A G 9: 66,094,452 W307R probably damaging Het
Stk11ip G A 1: 75,534,435 V928M probably benign Het
Tgm4 A G 9: 123,045,036 M114V probably null Het
Trpm2 G A 10: 77,918,909 R1248C probably benign Het
Txnrd1 T C 10: 82,885,046 I347T possibly damaging Het
Unc5a A G 13: 54,999,503 S106G probably damaging Het
Vmn2r85 T C 10: 130,418,743 M691V probably benign Het
Zfp58 T A 13: 67,491,409 Q321L probably benign Het
Other mutations in Gprin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Gprin1 APN 13 54740369 missense probably damaging 1.00
IGL02001:Gprin1 APN 13 54739192 missense probably damaging 1.00
IGL03308:Gprin1 APN 13 54740144 missense probably benign 0.05
R0980:Gprin1 UTSW 13 54740401 missense possibly damaging 0.75
R1638:Gprin1 UTSW 13 54739876 missense possibly damaging 0.53
R1942:Gprin1 UTSW 13 54739939 missense probably benign 0.36
R2145:Gprin1 UTSW 13 54738632 missense probably damaging 0.99
R2215:Gprin1 UTSW 13 54740233 missense probably damaging 0.99
R2338:Gprin1 UTSW 13 54738425 unclassified probably null
R3014:Gprin1 UTSW 13 54738475 missense probably benign 0.34
R4634:Gprin1 UTSW 13 54738058 missense probably damaging 1.00
R4732:Gprin1 UTSW 13 54739957 missense possibly damaging 0.50
R4733:Gprin1 UTSW 13 54739957 missense possibly damaging 0.50
R4903:Gprin1 UTSW 13 54737929 missense probably damaging 1.00
R4915:Gprin1 UTSW 13 54738073 missense probably damaging 1.00
R5102:Gprin1 UTSW 13 54739763 missense probably benign 0.06
R5979:Gprin1 UTSW 13 54739978 missense probably benign 0.01
R6544:Gprin1 UTSW 13 54740311 missense possibly damaging 0.46
R7007:Gprin1 UTSW 13 54738256 missense probably damaging 1.00
R7022:Gprin1 UTSW 13 54739042 missense probably benign 0.11
R7110:Gprin1 UTSW 13 54739243 missense probably benign 0.01
R7385:Gprin1 UTSW 13 54738610 missense probably benign 0.09
Posted On2016-08-02