Incidental Mutation 'IGL01144:Prr12'
ID 51659
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 # IGL01144
Quality Score
Status
Chromosome 7
Chromosomal Location 44676987-44702305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44696882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1011 (E1011G)
Ref Sequence ENSEMBL: ENSMUSP00000054702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057293]
AlphaFold E9PYL2
Predicted Effect unknown
Transcript: ENSMUST00000057293
AA Change: E1011G
SMART Domains Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: E1011G

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
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cox19 T C 5: 139,330,881 (GRCm39) K10E probably damaging Het
Ddx21 T A 10: 62,434,329 (GRCm39) K143N unknown Het
Dnajb13 T C 7: 100,152,431 (GRCm39) D295G possibly damaging Het
Gm14496 A G 2: 181,636,814 (GRCm39) N91D probably damaging Het
Kidins220 T C 12: 25,060,925 (GRCm39) I801T probably damaging Het
Nexmif A G X: 103,127,559 (GRCm39) S1453P possibly damaging Het
Nobox A G 6: 43,280,935 (GRCm39) V513A possibly damaging Het
Phactr1 G A 13: 43,191,000 (GRCm39) D157N possibly damaging Het
Plod1 G T 4: 148,017,211 (GRCm39) Q49K probably benign Het
Ppp1r10 C T 17: 36,237,456 (GRCm39) R209C probably benign Het
Rab27a G A 9: 72,982,850 (GRCm39) probably null Het
Rbbp6 T A 7: 122,575,169 (GRCm39) D59E possibly damaging Het
Sbf2 G T 7: 109,929,110 (GRCm39) T1432K probably damaging Het
Sorbs3 A C 14: 70,429,017 (GRCm39) S383A probably benign Het
Spta1 T A 1: 174,014,829 (GRCm39) D436E probably benign Het
Tbc1d4 A T 14: 101,682,099 (GRCm39) Y1266N probably damaging Het
Ttn A T 2: 76,551,173 (GRCm39) Y29660* probably null Het
Ubr2 A G 17: 47,268,247 (GRCm39) I989T probably damaging Het
Zkscan14 G T 5: 145,132,806 (GRCm39) R242S probably benign Het
Other mutations in Prr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Prr12 APN 7 44,692,909 (GRCm39) missense probably damaging 0.96
IGL01941:Prr12 APN 7 44,698,083 (GRCm39) unclassified probably benign
IGL02043:Prr12 APN 7 44,699,429 (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 2013-06-21