Incidental Mutation 'R6999:Gpatch2l'
ID 544412
Institutional Source Beutler Lab
Gene Symbol Gpatch2l
Ensembl Gene ENSMUSG00000021254
Gene Name G patch domain containing 2 like
Synonyms 1700020O03Rik
MMRRC Submission 045104-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6999 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 86288632-86338558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86290958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 47 (R47H)
Ref Sequence ENSEMBL: ENSMUSP00000152284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071106] [ENSMUST00000221368]
AlphaFold Q6PE65
Predicted Effect probably damaging
Transcript: ENSMUST00000071106
AA Change: R47H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254
AA Change: R47H

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 damaging
Transcript: ENSMUST00000221368
AA Change: R47H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1427 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,356,321 (GRCm39) Q629* probably null Het
Acss3 C A 10: 106,889,362 (GRCm39) G153C probably damaging Het
Alpk2 A G 18: 65,437,584 (GRCm39) S1270P probably damaging Het
Ankrd10 A T 8: 11,669,106 (GRCm39) L215Q probably damaging Het
Ankrd6 A G 4: 32,823,459 (GRCm39) S188P probably benign Het
Brinp2 A G 1: 158,078,875 (GRCm39) M316T probably benign Het
Bsn A G 9: 107,990,632 (GRCm39) S1707P probably benign Het
C2cd4b C T 9: 67,667,571 (GRCm39) A189V probably benign Het
Camk2b C T 11: 5,922,321 (GRCm39) R556H probably damaging Het
Cfap126 A G 1: 170,953,733 (GRCm39) D101G possibly damaging Het
Chd5 A T 4: 152,458,891 (GRCm39) I1085F probably damaging Het
Chp2 A G 7: 121,821,092 (GRCm39) E151G probably damaging Het
Chrd A G 16: 20,554,402 (GRCm39) T370A probably benign Het
Chrnb2 C T 3: 89,668,622 (GRCm39) R231H possibly damaging Het
Crisp4 T A 1: 18,207,259 (GRCm39) I10F possibly damaging Het
Csnka2ip T A 16: 64,298,933 (GRCm39) H477L unknown Het
Ctu1 T A 7: 43,324,662 (GRCm39) F34I probably damaging Het
Dctn1 T A 6: 83,168,263 (GRCm39) S407T possibly damaging Het
Ech1 T C 7: 28,529,689 (GRCm39) F191L probably benign Het
Enpp3 T C 10: 24,684,064 (GRCm39) D60G probably damaging Het
Epha6 T C 16: 60,245,533 (GRCm39) Y222C possibly damaging Het
Eppk1 A T 15: 75,993,423 (GRCm39) W1153R probably benign Het
Fbxo4 C T 15: 4,007,437 (GRCm39) D76N probably damaging Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Gemin5 C T 11: 58,015,947 (GRCm39) R1352Q probably benign Het
Gm9639 T C 10: 77,630,525 (GRCm39) probably benign Het
Gm973 C A 1: 59,673,251 (GRCm39) Q160K unknown Het
Grid2 A T 6: 64,053,893 (GRCm39) Q364L possibly damaging Het
Kcnn2 T G 18: 45,725,444 (GRCm39) S313R probably damaging Het
Kera T C 10: 97,444,814 (GRCm39) Y58H probably damaging Het
Meiosin A G 7: 18,836,300 (GRCm39) probably benign Het
Mtfr2 T C 10: 20,229,862 (GRCm39) L105P probably benign Het
Myom2 A G 8: 15,134,531 (GRCm39) T445A probably benign Het
Or2o1 A G 11: 49,051,239 (GRCm39) R133G possibly damaging Het
Or8b1c T A 9: 38,384,535 (GRCm39) L164Q probably damaging Het
Pcdha12 T C 18: 37,153,329 (GRCm39) L16P probably benign Het
Pcdhb10 T C 18: 37,546,171 (GRCm39) Y416H probably damaging Het
Pde8b T C 13: 95,223,342 (GRCm39) Y304C possibly damaging Het
Pkd1 T C 17: 24,797,475 (GRCm39) I2605T possibly damaging Het
Pnn T C 12: 59,117,085 (GRCm39) probably null Het
Ppa1 G A 10: 61,496,796 (GRCm39) G95S probably damaging Het
Rapgef4 G T 2: 72,069,469 (GRCm39) A730S probably damaging Het
Scap A G 9: 110,213,715 (GRCm39) Y1226C probably damaging Het
Scn2a A T 2: 65,512,453 (GRCm39) T197S probably benign Het
Slc2a6 GCTTCC GC 2: 26,916,047 (GRCm39) probably null Het
Slc8a3 T C 12: 81,361,529 (GRCm39) Y430C probably benign Het
Tead3 T C 17: 28,560,506 (GRCm39) T33A probably benign Het
Tep1 T A 14: 51,088,162 (GRCm39) I792F possibly damaging Het
Trpm2 A T 10: 77,771,725 (GRCm39) I638N probably damaging Het
Tuba1c A G 15: 98,935,193 (GRCm39) D218G probably benign Het
Tubgcp4 T A 2: 121,022,778 (GRCm39) W495R probably damaging Het
Tut1 T C 19: 8,943,382 (GRCm39) L823P probably damaging Het
Ube2q2l T C 6: 136,378,272 (GRCm39) N186S probably benign Het
Umodl1 C T 17: 31,218,097 (GRCm39) A1228V probably damaging Het
Vmn1r235 T A 17: 21,482,127 (GRCm39) F151I probably benign Het
Vmn2r45 T A 7: 8,486,219 (GRCm39) K356N probably benign Het
Zfp318 T A 17: 46,710,969 (GRCm39) N897K 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
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
R7239:Gpatch2l UTSW 12 86,307,349 (GRCm39) critical splice acceptor site probably null
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'- AGCCGGTCTTCTCAAGCATC -3'
(R):5'- TGTTGCTTACCCCTAATGATGG -3'

Sequencing Primer
(F):5'- TCTCAAGCATCATTCTTCATCAAG -3'
(R):5'- TTACCCCTAATGATGGCACTGAGAG -3'
Posted On 2019-05-13