Incidental Mutation 'R6544:Gprin1'
ID 521047
Institutional Source Beutler Lab
Gene Symbol Gprin1
Ensembl Gene ENSMUSG00000069227
Gene Name G protein-regulated inducer of neurite outgrowth 1
Synonyms Z16, GRIN1
MMRRC Submission 044670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 54884484-54897486 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54888124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 50 (A50V)
Ref Sequence ENSEMBL: ENSMUSP00000115539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]
AlphaFold Q3UNH4
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 possibly damaging
Transcript: ENSMUST00000099506
AA Change: A50V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: A50V

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 possibly damaging
Transcript: ENSMUST00000135343
AA Change: A50V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: A50V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T probably damaging Het
Other mutations in Gprin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Gprin1 APN 13 54,888,182 (GRCm39) missense probably damaging 1.00
IGL02001:Gprin1 APN 13 54,887,005 (GRCm39) missense probably damaging 1.00
IGL03188:Gprin1 APN 13 54,886,465 (GRCm39) missense probably benign 0.02
IGL03308:Gprin1 APN 13 54,887,957 (GRCm39) missense probably benign 0.05
R0980:Gprin1 UTSW 13 54,888,214 (GRCm39) missense possibly damaging 0.75
R1638:Gprin1 UTSW 13 54,887,689 (GRCm39) missense possibly damaging 0.53
R1942:Gprin1 UTSW 13 54,887,752 (GRCm39) missense probably benign 0.36
R2145:Gprin1 UTSW 13 54,886,445 (GRCm39) missense probably damaging 0.99
R2215:Gprin1 UTSW 13 54,888,046 (GRCm39) missense probably damaging 0.99
R2338:Gprin1 UTSW 13 54,886,238 (GRCm39) splice site probably null
R3014:Gprin1 UTSW 13 54,886,288 (GRCm39) missense probably benign 0.34
R4634:Gprin1 UTSW 13 54,885,871 (GRCm39) missense probably damaging 1.00
R4732:Gprin1 UTSW 13 54,887,770 (GRCm39) missense possibly damaging 0.50
R4733:Gprin1 UTSW 13 54,887,770 (GRCm39) missense possibly damaging 0.50
R4903:Gprin1 UTSW 13 54,885,742 (GRCm39) missense probably damaging 1.00
R4915:Gprin1 UTSW 13 54,885,886 (GRCm39) missense probably damaging 1.00
R5102:Gprin1 UTSW 13 54,887,576 (GRCm39) missense probably benign 0.06
R5979:Gprin1 UTSW 13 54,887,791 (GRCm39) missense probably benign 0.01
R7007:Gprin1 UTSW 13 54,886,069 (GRCm39) missense probably damaging 1.00
R7022:Gprin1 UTSW 13 54,886,855 (GRCm39) missense probably benign 0.11
R7110:Gprin1 UTSW 13 54,887,056 (GRCm39) missense probably benign 0.01
R7385:Gprin1 UTSW 13 54,886,423 (GRCm39) missense probably benign 0.09
R7916:Gprin1 UTSW 13 54,887,263 (GRCm39) missense possibly damaging 0.61
R8696:Gprin1 UTSW 13 54,885,764 (GRCm39) missense probably damaging 1.00
R9151:Gprin1 UTSW 13 54,886,778 (GRCm39) missense probably benign 0.22
R9178:Gprin1 UTSW 13 54,885,601 (GRCm39) missense probably damaging 1.00
R9285:Gprin1 UTSW 13 54,886,523 (GRCm39) missense probably damaging 1.00
R9398:Gprin1 UTSW 13 54,887,383 (GRCm39) missense probably damaging 0.99
R9711:Gprin1 UTSW 13 54,886,714 (GRCm39) missense probably benign 0.00
Z1176:Gprin1 UTSW 13 54,888,210 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- AGGGAGTTGCCATCCATCTTC -3'
(R):5'- TGCTTCAGAAGGACTCCAGC -3'

Sequencing Primer
(F):5'- TCTTCCCCGAGAACACAGGATTTC -3'
(R):5'- TCTGCTCCCCACAGGATG -3'
Posted On 2018-06-06