Incidental Mutation 'R6810:Psrc1'
ID 533743
Institutional Source Beutler Lab
Gene Symbol Psrc1
Ensembl Gene ENSMUSG00000068744
Gene Name proline/serine-rich coiled-coil 1
Synonyms 5430413I02Rik, DDA3
MMRRC Submission 044923-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.517) question?
Stock # R6810 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 108291155-108295547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108292664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 152 (K152N)
Ref Sequence ENSEMBL: ENSMUSP00000115634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090561] [ENSMUST00000102629] [ENSMUST00000128089]
AlphaFold Q9D0P7
Predicted Effect possibly damaging
Transcript: ENSMUST00000090561
AA Change: K152N

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000088049
Gene: ENSMUSG00000068744
AA Change: K152N

DomainStartEndE-ValueType
Pfam:GTSE1_N 7 124 4.8e-24 PFAM
low complexity region 131 143 N/A INTRINSIC
low complexity region 222 231 N/A INTRINSIC
low complexity region 300 316 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102629
AA Change: K152N

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099689
Gene: ENSMUSG00000068744
AA Change: K152N

DomainStartEndE-ValueType
Pfam:GTSE1_N 8 108 2e-12 PFAM
low complexity region 131 143 N/A INTRINSIC
low complexity region 222 231 N/A INTRINSIC
low complexity region 300 316 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000128089
AA Change: K152N

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115634
Gene: ENSMUSG00000068744
AA Change: K152N

DomainStartEndE-ValueType
Pfam:GTSE1_N 22 139 6.5e-25 PFAM
low complexity region 146 158 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 96% (53/55)
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 is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A T 8: 95,660,570 (GRCm39) T70S probably damaging Het
Adora1 T C 1: 134,161,777 (GRCm39) Y106C probably damaging Het
Aox3 T A 1: 58,180,590 (GRCm39) N250K probably benign Het
Ap2b1 A T 11: 83,226,317 (GRCm39) Y238F possibly damaging Het
Birc6 G A 17: 74,919,215 (GRCm39) S2015N possibly damaging Het
C7 A G 15: 5,037,136 (GRCm39) F581L probably damaging Het
Cd27 A T 6: 125,210,627 (GRCm39) H203Q probably damaging Het
Cdk2 A G 10: 128,535,456 (GRCm39) V274A probably benign Het
Cenpe A G 3: 134,949,583 (GRCm39) T1351A probably benign Het
Chd7 T C 4: 8,839,523 (GRCm39) L1353P probably damaging Het
Dcc C T 18: 71,503,764 (GRCm39) V945M probably damaging Het
Dio1 A G 4: 107,154,922 (GRCm39) V118A probably damaging Het
Dst C T 1: 34,251,379 (GRCm39) T1818M probably damaging Het
Dthd1 T A 5: 62,971,672 (GRCm39) M165K probably benign Het
Eif5b A G 1: 38,085,741 (GRCm39) I929V probably benign Het
F5 T A 1: 164,014,471 (GRCm39) S581T probably damaging Het
Fanca A C 8: 124,013,216 (GRCm39) I761S probably damaging Het
Fat2 T C 11: 55,173,067 (GRCm39) T2549A possibly damaging Het
Fut2 A G 7: 45,299,929 (GRCm39) L281P probably damaging Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm5431 T C 11: 48,779,803 (GRCm39) D651G probably damaging Het
Hook3 A C 8: 26,522,450 (GRCm39) probably null Het
Ivd G T 2: 118,700,242 (GRCm39) V90L probably benign Het
Klhdc7b A G 15: 89,272,559 (GRCm39) Y1147C possibly damaging Het
Mlh1 G A 9: 111,070,626 (GRCm39) T363M possibly damaging Het
Ndufa3 A T 7: 3,622,476 (GRCm39) I45F probably damaging Het
Nell2 T C 15: 95,139,468 (GRCm39) D588G probably damaging Het
Nhlrc3 T C 3: 53,360,996 (GRCm39) N253S probably benign Het
Nlrp4c T A 7: 6,069,754 (GRCm39) F552I probably damaging Het
Or51g1 A C 7: 102,634,042 (GRCm39) S110A probably damaging Het
Or5j3 G A 2: 86,128,267 (GRCm39) A36T probably benign Het
Pcdhga12 T C 18: 37,900,232 (GRCm39) S355P probably benign Het
Pcdhga7 A T 18: 37,848,926 (GRCm39) Y311F probably benign Het
Phldb2 A G 16: 45,569,088 (GRCm39) probably null Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Plxna4 A G 6: 32,287,457 (GRCm39) V480A probably benign Het
Ptcd3 A C 6: 71,862,516 (GRCm39) V473G probably damaging Het
Rab11fip1 ACTCT ACT 8: 27,642,760 (GRCm39) probably null Het
Semp2l2b C T 10: 21,942,616 (GRCm39) G455R probably damaging Het
Skint6 T C 4: 112,805,577 (GRCm39) probably null Het
Slc24a1 A G 9: 64,855,605 (GRCm39) V434A probably benign Het
Snd1 T A 6: 28,668,609 (GRCm39) V432E probably benign Het
Syne2 C T 12: 75,989,659 (GRCm39) T1847M probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tes C A 6: 17,104,651 (GRCm39) N377K probably benign Het
Tfip11 T A 5: 112,481,463 (GRCm39) I452N probably benign Het
Tgfbi T C 13: 56,785,016 (GRCm39) S658P probably benign Het
Tmx4 A C 2: 134,462,594 (GRCm39) D112E probably damaging Het
Tnn G T 1: 159,932,412 (GRCm39) D1367E probably damaging Het
Triobp A G 15: 78,850,815 (GRCm39) N323S possibly damaging Het
Usp40 T C 1: 87,908,755 (GRCm39) D582G probably benign Het
Vmn2r99 A G 17: 19,600,296 (GRCm39) K440R probably benign Het
Zfp707 T A 15: 75,846,748 (GRCm39) L193Q probably damaging Het
Zfp748 T C 13: 67,689,844 (GRCm39) Y472C probably damaging Het
Other mutations in Psrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Psrc1 APN 3 108,294,008 (GRCm39) missense possibly damaging 0.93
R1481:Psrc1 UTSW 3 108,292,309 (GRCm39) missense probably benign 0.09
R1637:Psrc1 UTSW 3 108,292,609 (GRCm39) missense probably damaging 1.00
R1645:Psrc1 UTSW 3 108,292,554 (GRCm39) missense probably damaging 1.00
R5000:Psrc1 UTSW 3 108,287,839 (GRCm39) unclassified probably benign
R5275:Psrc1 UTSW 3 108,293,675 (GRCm39) missense probably benign 0.01
R5295:Psrc1 UTSW 3 108,293,675 (GRCm39) missense probably benign 0.01
R7545:Psrc1 UTSW 3 108,293,759 (GRCm39) splice site probably null
R7909:Psrc1 UTSW 3 108,292,567 (GRCm39) missense probably damaging 1.00
R8237:Psrc1 UTSW 3 108,293,930 (GRCm39) missense probably damaging 1.00
R8312:Psrc1 UTSW 3 108,293,673 (GRCm39) missense probably benign 0.01
R8927:Psrc1 UTSW 3 108,293,973 (GRCm39) missense probably damaging 0.97
R8928:Psrc1 UTSW 3 108,293,973 (GRCm39) missense probably damaging 0.97
Z1192:Psrc1 UTSW 3 108,293,873 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCTTGATGAAGCCAACCGC -3'
(R):5'- TCCAGGGGATAATTAACTGTGTTCC -3'

Sequencing Primer
(F):5'- GTGTGCCCTGAAAGATCGG -3'
(R):5'- GGGATAATTAACTGTGTTCCTCTGCC -3'
Posted On 2018-09-12