Incidental Mutation 'IGL02043:Prr12'
ID 184856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prr12
Ensembl Gene ENSMUSG00000046574
Gene Name proline rich 12
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.547) question?
Stock # IGL02043
Quality Score
Status
Chromosome 7
Chromosomal Location 44676987-44702305 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 44699429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007981] [ENSMUST00000057293] [ENSMUST00000209920] [ENSMUST00000210101] [ENSMUST00000210493] [ENSMUST00000210690] [ENSMUST00000211014] [ENSMUST00000211337] [ENSMUST00000210500]
AlphaFold E9PYL2
Predicted Effect probably benign
Transcript: ENSMUST00000007981
SMART Domains Protein: ENSMUSP00000007981
Gene: ENSMUSG00000007837

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
GLA 30 97 4.2e-27 SMART
transmembrane domain 112 134 N/A INTRINSIC
low complexity region 156 173 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000057293
AA Change: F162S
SMART Domains Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: F162S

DomainStartEndE-ValueType
low complexity region 135 150 N/A INTRINSIC
low complexity region 208 222 N/A INTRINSIC
low complexity region 225 242 N/A INTRINSIC
low complexity region 249 261 N/A INTRINSIC
low complexity region 330 376 N/A INTRINSIC
low complexity region 388 413 N/A INTRINSIC
low complexity region 418 444 N/A INTRINSIC
low complexity region 450 464 N/A INTRINSIC
low complexity region 469 487 N/A INTRINSIC
low complexity region 535 559 N/A INTRINSIC
low complexity region 598 616 N/A INTRINSIC
low complexity region 665 682 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 785 814 N/A INTRINSIC
low complexity region 830 841 N/A INTRINSIC
low complexity region 858 871 N/A INTRINSIC
low complexity region 883 896 N/A INTRINSIC
low complexity region 949 960 N/A INTRINSIC
low complexity region 964 986 N/A INTRINSIC
low complexity region 1033 1044 N/A INTRINSIC
low complexity region 1059 1070 N/A INTRINSIC
AT_hook 1161 1173 5.74e1 SMART
AT_hook 1193 1205 8.09e0 SMART
low complexity region 1252 1264 N/A INTRINSIC
low complexity region 1308 1328 N/A INTRINSIC
low complexity region 1417 1535 N/A INTRINSIC
low complexity region 1684 1748 N/A INTRINSIC
Pfam:DUF4211 1817 1950 6.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209417
Predicted Effect probably benign
Transcript: ENSMUST00000209920
Predicted Effect probably benign
Transcript: ENSMUST00000210101
Predicted Effect probably benign
Transcript: ENSMUST00000210493
Predicted Effect probably benign
Transcript: ENSMUST00000210690
Predicted Effect probably benign
Transcript: ENSMUST00000211014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211084
Predicted Effect probably benign
Transcript: ENSMUST00000211337
Predicted Effect probably benign
Transcript: ENSMUST00000210500
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Prr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01144:Prr12 APN 7 44,696,882 (GRCm39) missense unknown
IGL01603:Prr12 APN 7 44,692,909 (GRCm39) missense probably damaging 0.96
IGL01941:Prr12 APN 7 44,698,083 (GRCm39) unclassified probably benign
IGL02170:Prr12 APN 7 44,695,612 (GRCm39) missense unknown
IGL02494:Prr12 APN 7 44,678,270 (GRCm39) missense unknown
IGL02947:Prr12 APN 7 44,697,980 (GRCm39) missense unknown
R0128:Prr12 UTSW 7 44,699,463 (GRCm39) unclassified probably benign
R0255:Prr12 UTSW 7 44,699,415 (GRCm39) unclassified probably benign
R0556:Prr12 UTSW 7 44,680,093 (GRCm39) missense unknown
R1168:Prr12 UTSW 7 44,678,471 (GRCm39) missense unknown
R1266:Prr12 UTSW 7 44,699,677 (GRCm39) unclassified probably benign
R1374:Prr12 UTSW 7 44,695,642 (GRCm39) missense unknown
R1531:Prr12 UTSW 7 44,677,954 (GRCm39) missense unknown
R1537:Prr12 UTSW 7 44,678,366 (GRCm39) missense unknown
R1572:Prr12 UTSW 7 44,678,224 (GRCm39) missense unknown
R1617:Prr12 UTSW 7 44,699,018 (GRCm39) unclassified probably benign
R1647:Prr12 UTSW 7 44,683,616 (GRCm39) missense probably benign 0.20
R1694:Prr12 UTSW 7 44,678,003 (GRCm39) missense unknown
R1732:Prr12 UTSW 7 44,697,780 (GRCm39) missense unknown
R1819:Prr12 UTSW 7 44,698,121 (GRCm39) unclassified probably benign
R2114:Prr12 UTSW 7 44,695,506 (GRCm39) missense unknown
R2210:Prr12 UTSW 7 44,698,775 (GRCm39) unclassified probably benign
R2846:Prr12 UTSW 7 44,695,436 (GRCm39) missense unknown
R2902:Prr12 UTSW 7 44,697,036 (GRCm39) missense unknown
R2985:Prr12 UTSW 7 44,695,436 (GRCm39) missense unknown
R4094:Prr12 UTSW 7 44,697,371 (GRCm39) missense unknown
R4498:Prr12 UTSW 7 44,695,338 (GRCm39) missense unknown
R4523:Prr12 UTSW 7 44,697,947 (GRCm39) missense unknown
R4763:Prr12 UTSW 7 44,697,119 (GRCm39) missense unknown
R4775:Prr12 UTSW 7 44,700,749 (GRCm39) unclassified probably benign
R4995:Prr12 UTSW 7 44,700,653 (GRCm39) unclassified probably benign
R5007:Prr12 UTSW 7 44,699,225 (GRCm39) unclassified probably benign
R5045:Prr12 UTSW 7 44,699,318 (GRCm39) unclassified probably benign
R5184:Prr12 UTSW 7 44,695,801 (GRCm39) missense unknown
R5897:Prr12 UTSW 7 44,692,808 (GRCm39) missense probably damaging 1.00
R6847:Prr12 UTSW 7 44,695,164 (GRCm39) missense unknown
R6912:Prr12 UTSW 7 44,698,269 (GRCm39) unclassified probably benign
R7147:Prr12 UTSW 7 44,683,274 (GRCm39) missense unknown
R8120:Prr12 UTSW 7 44,684,166 (GRCm39) missense probably damaging 1.00
R8292:Prr12 UTSW 7 44,684,112 (GRCm39) missense probably damaging 1.00
R8822:Prr12 UTSW 7 44,699,763 (GRCm39) missense unknown
R9039:Prr12 UTSW 7 44,684,146 (GRCm39) missense probably damaging 1.00
R9095:Prr12 UTSW 7 44,695,267 (GRCm39) missense unknown
R9148:Prr12 UTSW 7 44,697,242 (GRCm39) missense unknown
R9240:Prr12 UTSW 7 44,684,075 (GRCm39) missense probably damaging 1.00
R9272:Prr12 UTSW 7 44,692,811 (GRCm39) missense probably damaging 1.00
R9503:Prr12 UTSW 7 44,693,020 (GRCm39) missense unknown
R9533:Prr12 UTSW 7 44,698,692 (GRCm39) missense unknown
R9762:Prr12 UTSW 7 44,696,954 (GRCm39) missense unknown
X0066:Prr12 UTSW 7 44,696,427 (GRCm39) missense unknown
Z1176:Prr12 UTSW 7 44,702,280 (GRCm39) missense unknown
Z1177:Prr12 UTSW 7 44,699,710 (GRCm39) missense unknown
Posted On 2014-05-07