Incidental Mutation 'R9039:Prr12'
ID 687613
Institutional Source Beutler Lab
Gene Symbol Prr12
Ensembl Gene ENSMUSG00000046574
Gene Name proline rich 12
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.547) question?
Stock # R9039 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44676987-44702305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44684146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1631 (D1631E)
Ref Sequence ENSEMBL: ENSMUSP00000054702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057293]
AlphaFold E9PYL2
Predicted Effect probably damaging
Transcript: ENSMUST00000057293
AA Change: D1631E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: D1631E

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,213,849 (GRCm39) V692A possibly damaging Het
Aco2 C G 15: 81,756,620 (GRCm39) probably benign Het
Adcy10 T C 1: 165,345,914 (GRCm39) I321T probably damaging Het
Agbl2 C T 2: 90,645,730 (GRCm39) T821I probably benign Het
Alpk1 A G 3: 127,473,192 (GRCm39) L937P probably damaging Het
Atp5f1b A G 10: 127,919,767 (GRCm39) D45G probably benign Het
C8a C T 4: 104,679,200 (GRCm39) R530H probably benign Het
Cacna1s T C 1: 136,016,057 (GRCm39) S694P probably benign Het
Cdca7 T A 2: 72,312,856 (GRCm39) D162E probably benign Het
Cep78 G T 19: 15,936,907 (GRCm39) Q600K probably benign Het
Cert1 C T 13: 96,679,717 (GRCm39) P16S probably benign Het
Coq8b A C 7: 26,950,011 (GRCm39) R363S probably benign Het
Cpne3 A T 4: 19,540,770 (GRCm39) C202S probably damaging Het
Csmd3 G T 15: 47,483,308 (GRCm39) probably benign Het
Cyp4a14 A T 4: 115,344,461 (GRCm39) V468E probably damaging Het
Dchs1 A T 7: 105,405,215 (GRCm39) D2442E probably benign Het
Dip2a T C 10: 76,163,553 (GRCm39) Y49C probably benign Het
Dop1a A G 9: 86,382,870 (GRCm39) R268G probably damaging Het
Eid3 C T 10: 82,703,565 (GRCm39) S342L possibly damaging Het
Ezh2 A G 6: 47,528,671 (GRCm39) L296P possibly damaging Het
Fgfrl1 G C 5: 108,853,439 (GRCm39) probably null Het
Flg2 A G 3: 93,110,899 (GRCm39) R976G unknown Het
Fsip2 C A 2: 82,828,545 (GRCm39) Q6781K probably benign Het
Golga3 C T 5: 110,352,799 (GRCm39) H857Y probably benign Het
Hmcn2 T A 2: 31,244,646 (GRCm39) V701E probably damaging Het
Il21 A T 3: 37,286,602 (GRCm39) I38N probably benign Het
Ip6k2 G T 9: 108,681,807 (GRCm39) G246V probably damaging Het
Ipo13 T C 4: 117,758,185 (GRCm39) Q726R probably damaging Het
Itsn1 A T 16: 91,703,658 (GRCm39) N1521Y unknown Het
Kif2b A G 11: 91,467,131 (GRCm39) V384A possibly damaging Het
L3mbtl1 G T 2: 162,807,988 (GRCm39) R541L probably damaging Het
Lama3 T A 18: 12,614,120 (GRCm39) C1296* probably null Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Ly6c1 C A 15: 74,917,300 (GRCm39) G116V probably damaging Het
Mmp27 C A 9: 7,581,250 (GRCm39) F478L probably benign Het
Moxd1 T A 10: 24,155,251 (GRCm39) probably benign Het
Naaa T A 5: 92,420,300 (GRCm39) probably benign Het
Nav1 T A 1: 135,371,487 (GRCm39) Q1746L unknown Het
Nedd9 T C 13: 41,471,984 (GRCm39) Y165C probably damaging Het
Neurod1 T C 2: 79,284,720 (GRCm39) Y221C probably damaging Het
Or2q1 A T 6: 42,794,545 (GRCm39) I47F probably damaging Het
Or4c122 G T 2: 89,079,545 (GRCm39) F152L probably benign Het
Or5al6 T C 2: 85,976,625 (GRCm39) Y151C probably damaging Het
Or9m1 T C 2: 87,733,907 (GRCm39) T38A probably damaging Het
Orm3 A G 4: 63,274,533 (GRCm39) N33D possibly damaging Het
Ppp1r3a G A 6: 14,754,525 (GRCm39) P241S probably damaging Het
Ppp1r9a A G 6: 5,134,657 (GRCm39) T949A probably benign Het
Prdx6 A T 1: 161,078,619 (GRCm39) I23N probably damaging Het
Prkd3 A T 17: 79,280,003 (GRCm39) V334E probably benign Het
Ptpn22 A G 3: 103,819,551 (GRCm39) probably benign Het
Pum2 T G 12: 8,794,430 (GRCm39) D773E probably damaging Het
Sidt2 A G 9: 45,856,648 (GRCm39) C451R probably benign Het
Slc37a2 A G 9: 37,148,658 (GRCm39) S275P probably benign Het
Slmap G T 14: 26,254,519 (GRCm39) N54K probably benign Het
Susd4 A G 1: 182,681,597 (GRCm39) D146G probably benign Het
Tekt3 G A 11: 62,972,169 (GRCm39) R275H possibly damaging Het
Tkfc A G 19: 10,573,612 (GRCm39) L242P probably damaging Het
Tm9sf2 T A 14: 122,363,576 (GRCm39) L99I probably benign Het
Triqk A T 4: 12,980,490 (GRCm39) D78V probably damaging Het
Trmo T C 4: 46,382,322 (GRCm39) D258G probably benign Het
Tsc2 A G 17: 24,826,489 (GRCm39) V920A probably benign Het
Tspan17 C T 13: 54,943,991 (GRCm39) Q257* probably null Het
Tube1 T A 10: 39,011,017 (GRCm39) F45I probably damaging Het
Vmn1r4 A G 6: 56,933,822 (GRCm39) T109A possibly damaging Het
Vmn2r14 A T 5: 109,367,902 (GRCm39) Y363* probably null Het
Zfp324 G T 7: 12,705,455 (GRCm39) G548V probably benign Het
Zpld2 C A 4: 133,922,858 (GRCm39) V492F probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CACCTCCTGTATGTGAAGCC -3'
(R):5'- CTTCTGCAGAAATTCACTCCAG -3'

Sequencing Primer
(F):5'- AGCCAGCTTCACACCTTG -3'
(R):5'- TTCACTCCAGAGATCAAGGATGGC -3'
Posted On 2021-11-19