Incidental Mutation 'R7239:Gpatch2l'
ID 563097
Institutional Source Beutler Lab
Gene Symbol Gpatch2l
Ensembl Gene ENSMUSG00000021254
Gene Name G patch domain containing 2 like
Synonyms 1700020O03Rik
MMRRC Submission 045346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7239 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 86288632-86338558 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 86307349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071106] [ENSMUST00000221368]
AlphaFold Q6PE65
Predicted Effect probably null
Transcript: ENSMUST00000071106
SMART Domains Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254

DomainStartEndE-ValueType
low complexity region 33 48 N/A INTRINSIC
low complexity region 127 135 N/A INTRINSIC
low complexity region 219 232 N/A INTRINSIC
low complexity region 413 427 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000221368
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (76/77)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,472,268 (GRCm39) V144A probably damaging Het
Abca5 A T 11: 110,217,530 (GRCm39) Y109N possibly damaging Het
Abcb5 T C 12: 118,892,460 (GRCm39) Q433R probably benign Het
Adamts7 G A 9: 90,068,610 (GRCm39) probably null Het
Adgrv1 T C 13: 81,624,731 (GRCm39) D3746G possibly damaging Het
Arhgap29 C T 3: 121,782,599 (GRCm39) S159L probably benign Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Atp1a3 G A 7: 24,700,129 (GRCm39) P77L probably damaging Het
B4galt1 T C 4: 40,812,754 (GRCm39) D257G probably damaging Het
Bin1 T A 18: 32,539,224 (GRCm39) N52K probably damaging Het
Catsperg2 A G 7: 29,409,507 (GRCm39) M562T probably benign Het
Ccdc33 G A 9: 57,940,192 (GRCm39) Q713* probably null Het
Cd96 A T 16: 45,929,477 (GRCm39) L156Q probably damaging Het
Clpb A G 7: 101,360,662 (GRCm39) T231A probably damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnmt3a A T 12: 3,922,850 (GRCm39) Q151L probably benign Het
Dock2 C T 11: 34,181,677 (GRCm39) V1629M probably benign Het
Edem1 G A 6: 108,831,341 (GRCm39) D601N probably benign Het
Eno2 C T 6: 124,745,228 (GRCm39) V20M probably damaging Het
Eny2 A C 15: 44,297,250 (GRCm39) D52A probably benign Het
Esp36 T C 17: 38,728,132 (GRCm39) R93G possibly damaging Het
Fam227a A G 15: 79,518,263 (GRCm39) probably null Het
Fat4 C A 3: 39,037,989 (GRCm39) H3880Q possibly damaging Het
Fbxw24 A T 9: 109,434,598 (GRCm39) V334E possibly damaging Het
Flrt1 T C 19: 7,073,329 (GRCm39) Q406R probably benign Het
Frmpd2 A G 14: 33,274,034 (GRCm39) N1092S probably benign Het
Gm904 C A 13: 50,799,287 (GRCm39) T82K probably benign Het
Gnas G C 2: 174,140,408 (GRCm39) G252R unknown Het
H2ac6 A T 13: 23,867,593 (GRCm39) I103N probably damaging Het
Ift74 T C 4: 94,541,187 (GRCm39) V204A probably benign Het
Ikzf4 A G 10: 128,477,113 (GRCm39) L119P probably damaging Het
Ing3 G A 6: 21,952,193 (GRCm39) E56K probably damaging Het
Klhl25 T C 7: 75,516,516 (GRCm39) I474T probably benign Het
Klhl5 T C 5: 65,318,529 (GRCm39) V556A probably damaging Het
Krt14 A T 11: 100,095,081 (GRCm39) M382K probably benign Het
Lmcd1 T C 6: 112,292,745 (GRCm39) V199A possibly damaging Het
Lpcat4 T A 2: 112,073,052 (GRCm39) F200I possibly damaging Het
Lrp1b T C 2: 40,894,725 (GRCm39) T2282A Het
Lrrk1 T C 7: 65,911,903 (GRCm39) T1886A probably benign Het
Meis2 T C 2: 115,889,484 (GRCm39) probably null Het
Mki67 C T 7: 135,301,905 (GRCm39) R1043K possibly damaging Het
Myct1 G T 10: 5,554,601 (GRCm39) R156L possibly damaging Het
Nckap5l G T 15: 99,324,090 (GRCm39) H804Q probably damaging Het
Ndst3 T G 3: 123,400,555 (GRCm39) E450D probably damaging Het
Nipbl A T 15: 8,321,619 (GRCm39) probably null Het
Npy A G 6: 49,800,587 (GRCm39) N4D probably benign Het
Or7g35 A T 9: 19,496,487 (GRCm39) Y218F probably damaging Het
Osgin2 T C 4: 16,008,748 (GRCm39) S18G probably benign Het
Pcdha9 T G 18: 37,131,551 (GRCm39) F207V probably benign Het
Pcdhb13 A T 18: 37,577,697 (GRCm39) I692F probably damaging Het
Pde3b T A 7: 114,015,384 (GRCm39) V200E probably damaging Het
Ppp6r3 A T 19: 3,543,981 (GRCm39) L345I probably benign Het
Psd2 G A 18: 36,113,472 (GRCm39) A315T probably damaging Het
Rnf111 G A 9: 70,376,655 (GRCm39) T328I probably damaging Het
Rnf213 T C 11: 119,349,614 (GRCm39) L3825P Het
Rtl1 C T 12: 109,558,909 (GRCm39) V977I probably benign Het
Scn1a G A 2: 66,108,000 (GRCm39) probably null Het
Slc25a2 G T 18: 37,770,748 (GRCm39) N260K probably benign Het
Sprtn T C 8: 125,626,983 (GRCm39) V121A probably damaging Het
Ssx2ip T G 3: 146,133,771 (GRCm39) L260W probably damaging Het
Syde1 G A 10: 78,424,615 (GRCm39) R406C probably damaging Het
Tab1 A G 15: 80,017,372 (GRCm39) R6G probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tenm4 G A 7: 96,385,020 (GRCm39) V526I possibly damaging Het
Tfap2b T C 1: 19,304,404 (GRCm39) F405L probably damaging Het
Trbv13-1 C A 6: 41,093,325 (GRCm39) T87K probably benign Het
Trmt44 G T 5: 35,732,130 (GRCm39) A87E probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn T C 2: 76,617,634 (GRCm39) D16279G probably damaging Het
Ttn G A 2: 76,711,672 (GRCm39) R8290C unknown Het
Ugt2b37 T A 5: 87,402,590 (GRCm39) I14L probably benign Het
Vmn1r13 A T 6: 57,187,611 (GRCm39) M257L probably benign Het
Vmn1r184 C T 7: 25,966,602 (GRCm39) P116L possibly damaging Het
Zfp426 T C 9: 20,381,887 (GRCm39) T367A probably benign Het
Zfp647 A T 15: 76,795,956 (GRCm39) C235S probably damaging Het
Other mutations in Gpatch2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02335:Gpatch2l APN 12 86,303,711 (GRCm39) splice site probably benign
IGL02458:Gpatch2l APN 12 86,335,735 (GRCm39) utr 3 prime probably benign
IGL03131:Gpatch2l APN 12 86,328,285 (GRCm39) missense probably benign 0.00
R0546:Gpatch2l UTSW 12 86,335,622 (GRCm39) makesense probably null
R1349:Gpatch2l UTSW 12 86,307,483 (GRCm39) missense possibly damaging 0.94
R1368:Gpatch2l UTSW 12 86,307,439 (GRCm39) missense possibly damaging 0.73
R1600:Gpatch2l UTSW 12 86,303,708 (GRCm39) critical splice donor site probably null
R1701:Gpatch2l UTSW 12 86,335,726 (GRCm39) missense probably benign 0.00
R2656:Gpatch2l UTSW 12 86,335,584 (GRCm39) missense probably damaging 1.00
R3149:Gpatch2l UTSW 12 86,291,089 (GRCm39) missense possibly damaging 0.76
R3150:Gpatch2l UTSW 12 86,291,089 (GRCm39) missense possibly damaging 0.76
R3176:Gpatch2l UTSW 12 86,291,089 (GRCm39) missense possibly damaging 0.76
R3177:Gpatch2l UTSW 12 86,291,089 (GRCm39) missense possibly damaging 0.76
R3276:Gpatch2l UTSW 12 86,291,089 (GRCm39) missense possibly damaging 0.76
R3277:Gpatch2l UTSW 12 86,291,089 (GRCm39) missense possibly damaging 0.76
R4342:Gpatch2l UTSW 12 86,307,453 (GRCm39) missense probably benign 0.00
R5161:Gpatch2l UTSW 12 86,313,950 (GRCm39) missense probably benign 0.17
R5712:Gpatch2l UTSW 12 86,291,254 (GRCm39) missense probably damaging 1.00
R6343:Gpatch2l UTSW 12 86,307,379 (GRCm39) nonsense probably null
R6899:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6910:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6911:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6912:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6917:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6930:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6994:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6995:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6996:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6998:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R6999:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R7000:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R7001:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R7002:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R7003:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R7010:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R7011:Gpatch2l UTSW 12 86,290,958 (GRCm39) missense probably damaging 1.00
R7203:Gpatch2l UTSW 12 86,335,711 (GRCm39) missense probably benign 0.40
R7327:Gpatch2l UTSW 12 86,303,646 (GRCm39) missense probably damaging 1.00
R7419:Gpatch2l UTSW 12 86,312,025 (GRCm39) critical splice donor site probably null
R8231:Gpatch2l UTSW 12 86,290,963 (GRCm39) missense probably damaging 1.00
R8876:Gpatch2l UTSW 12 86,308,405 (GRCm39) missense probably damaging 0.99
R9189:Gpatch2l UTSW 12 86,291,152 (GRCm39) missense probably benign 0.13
R9284:Gpatch2l UTSW 12 86,290,883 (GRCm39) missense probably benign 0.01
R9432:Gpatch2l UTSW 12 86,307,408 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGCATGAGGCTAGATCTTAG -3'
(R):5'- ACACTCACCTCTTTGAGCTGG -3'

Sequencing Primer
(F):5'- GCATGAGGCTAGATCTTAGATTTTAC -3'
(R):5'- CTTTGAGCTGGCCGGGAAG -3'
Posted On 2019-06-26