Incidental Mutation 'R6143:Psg22'
ID 488671
Institutional Source Beutler Lab
Gene Symbol Psg22
Ensembl Gene ENSMUSG00000044903
Gene Name pregnancy-specific beta-1-glycoprotein 22
Synonyms cea9
MMRRC Submission 044290-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6143 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 18452015-18461173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18456723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 163 (A163V)
Ref Sequence ENSEMBL: ENSMUSP00000146795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051973] [ENSMUST00000108481] [ENSMUST00000208221]
AlphaFold Q810J1
Predicted Effect probably benign
Transcript: ENSMUST00000051973
AA Change: A163V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000050633
Gene: ENSMUSG00000044903
AA Change: A163V

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
IG 40 141 7.59e-4 SMART
IG 160 261 1.13e-2 SMART
IG 280 381 3.74e-3 SMART
IGc2 397 461 7.35e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108481
AA Change: A202V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104121
Gene: ENSMUSG00000044903
AA Change: A202V

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
IG 79 180 7.59e-4 SMART
IG 199 300 1.13e-2 SMART
IG 319 420 3.74e-3 SMART
IGc2 436 500 7.35e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208221
AA Change: A163V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A G 14: 55,797,736 (GRCm39) probably benign Het
Abcd2 A T 15: 91,075,150 (GRCm39) V221E possibly damaging Het
Arhgap39 T A 15: 76,614,606 (GRCm39) K853* probably null Het
Art2a T C 7: 101,204,430 (GRCm39) D36G possibly damaging Het
Atp13a1 C T 8: 70,258,010 (GRCm39) P922S probably benign Het
Brwd1 C T 16: 95,804,156 (GRCm39) G2005R probably benign Het
Bzw2 A T 12: 36,170,725 (GRCm39) M133K probably benign Het
Cacna1s T G 1: 136,004,496 (GRCm39) S346A probably damaging Het
Cebpb C A 2: 167,531,220 (GRCm39) D93E probably benign Het
Cep162 C A 9: 87,094,904 (GRCm39) probably null Het
Col9a2 A T 4: 120,911,060 (GRCm39) Y565F probably damaging Het
Csgalnact1 T A 8: 68,826,202 (GRCm39) N372I probably damaging Het
Csmd1 T C 8: 16,138,315 (GRCm39) D1579G probably damaging Het
Cyfip2 A C 11: 46,144,792 (GRCm39) Y687* probably null Het
Cyp2d34 G A 15: 82,504,977 (GRCm39) R28W probably benign Het
Dbndd2 C A 2: 164,330,206 (GRCm39) Q13K probably damaging Het
Dnah5 T A 15: 28,233,377 (GRCm39) S245R probably benign Het
Dnajb5 A T 4: 42,956,990 (GRCm39) T226S probably damaging Het
Dnmt1 T C 9: 20,838,430 (GRCm39) E211G probably benign Het
Dnpep G A 1: 75,291,872 (GRCm39) H214Y probably damaging Het
Drc3 G A 11: 60,261,406 (GRCm39) V186M possibly damaging Het
Dvl3 A G 16: 20,345,789 (GRCm39) D413G possibly damaging Het
Dyrk4 C T 6: 126,863,614 (GRCm39) probably null Het
Edc4 T A 8: 106,612,506 (GRCm39) D181E probably damaging Het
Enthd1 T C 15: 80,393,487 (GRCm39) Y247C possibly damaging Het
Gm5622 A T 14: 51,892,372 (GRCm39) R50S possibly damaging Het
Gpbp1 G A 13: 111,603,389 (GRCm39) T20I probably damaging Het
Hnrnpdl A T 5: 100,184,410 (GRCm39) Y276* probably null Het
Hsd3b7 A C 7: 127,400,404 (GRCm39) E51A probably damaging Het
Ighv5-16 G T 12: 113,802,238 (GRCm39) F87L probably damaging Het
Iqsec1 C T 6: 90,786,666 (GRCm39) probably null Het
Irgm2 A T 11: 58,111,435 (GRCm39) E387D possibly damaging Het
Klhl23 C A 2: 69,664,040 (GRCm39) P463Q possibly damaging Het
Mast4 A T 13: 102,990,391 (GRCm39) N43K probably damaging Het
Mme T G 3: 63,207,532 (GRCm39) probably null Het
Mrps31 T G 8: 22,901,539 (GRCm39) S20A probably benign Het
Myo5c A G 9: 75,157,091 (GRCm39) R176G probably damaging Het
Naf1 T C 8: 67,330,347 (GRCm39) V291A possibly damaging Het
Nbeal1 A T 1: 60,290,466 (GRCm39) H1021L possibly damaging Het
Ncaph2 T C 15: 89,248,206 (GRCm39) probably null Het
Neurod4 T G 10: 130,106,869 (GRCm39) Y135S probably damaging Het
Nrp2 A T 1: 62,799,974 (GRCm39) N396I probably damaging Het
Nvl T G 1: 180,962,560 (GRCm39) T137P probably benign Het
Or5p59 A G 7: 107,703,335 (GRCm39) D273G probably damaging Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pcdhgc4 T A 18: 37,950,653 (GRCm39) S690T possibly damaging Het
Pck1 A T 2: 172,995,805 (GRCm39) D101V probably damaging Het
Pdilt T A 7: 119,094,265 (GRCm39) N329Y probably damaging Het
Pfkl T A 10: 77,825,447 (GRCm39) R648W probably damaging Het
Prtn3 T A 10: 79,716,382 (GRCm39) I63N probably damaging Het
Pten A G 19: 32,777,485 (GRCm39) T160A possibly damaging Het
Retreg2 A G 1: 75,123,530 (GRCm39) D449G probably damaging Het
Scn9a T C 2: 66,317,868 (GRCm39) Y1531C probably benign Het
Sgk2 T A 2: 162,841,174 (GRCm39) C195S probably damaging Het
Slc19a3 C T 1: 83,004,060 (GRCm39) V14I probably benign Het
Snai2 A T 16: 14,526,107 (GRCm39) R253* probably null Het
Speg G A 1: 75,391,031 (GRCm39) V1512I probably damaging Het
Srsf1 G A 11: 87,940,425 (GRCm39) probably benign Het
Tctn3 G T 19: 40,597,671 (GRCm39) T190N probably benign Het
Tmprss11f T A 5: 86,687,558 (GRCm39) I117L probably benign Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Vmn2r118 G T 17: 55,899,871 (GRCm39) L678I possibly damaging Het
Vps13b T C 15: 35,668,884 (GRCm39) S1594P probably damaging Het
Vps13d G T 4: 144,875,135 (GRCm39) H1791N possibly damaging Het
Other mutations in Psg22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:Psg22 APN 7 18,452,200 (GRCm39) missense probably benign 0.00
IGL00839:Psg22 APN 7 18,456,893 (GRCm39) missense probably benign 0.01
IGL00898:Psg22 APN 7 18,458,392 (GRCm39) missense probably damaging 1.00
IGL02262:Psg22 APN 7 18,458,496 (GRCm39) missense probably damaging 0.98
IGL02678:Psg22 APN 7 18,453,418 (GRCm39) missense probably damaging 0.99
IGL02749:Psg22 APN 7 18,456,944 (GRCm39) missense possibly damaging 0.50
IGL02928:Psg22 APN 7 18,453,458 (GRCm39) missense probably damaging 0.98
IGL02977:Psg22 APN 7 18,453,524 (GRCm39) missense probably benign 0.20
R0470:Psg22 UTSW 7 18,453,589 (GRCm39) missense probably damaging 0.99
R1902:Psg22 UTSW 7 18,458,363 (GRCm39) nonsense probably null
R1935:Psg22 UTSW 7 18,453,635 (GRCm39) missense probably damaging 0.99
R1936:Psg22 UTSW 7 18,453,635 (GRCm39) missense probably damaging 0.99
R2013:Psg22 UTSW 7 18,453,560 (GRCm39) missense possibly damaging 0.93
R2278:Psg22 UTSW 7 18,460,762 (GRCm39) missense possibly damaging 0.80
R4258:Psg22 UTSW 7 18,458,554 (GRCm39) missense probably damaging 1.00
R5029:Psg22 UTSW 7 18,453,662 (GRCm39) missense probably damaging 1.00
R5885:Psg22 UTSW 7 18,452,257 (GRCm39) missense probably damaging 0.98
R6084:Psg22 UTSW 7 18,453,705 (GRCm39) missense probably benign 0.01
R6209:Psg22 UTSW 7 18,453,599 (GRCm39) missense probably damaging 1.00
R7017:Psg22 UTSW 7 18,458,366 (GRCm39) missense probably benign 0.01
R7337:Psg22 UTSW 7 18,453,499 (GRCm39) missense probably benign 0.20
R7417:Psg22 UTSW 7 18,456,891 (GRCm39) missense probably damaging 1.00
R7460:Psg22 UTSW 7 18,458,329 (GRCm39) missense probably benign 0.03
R7570:Psg22 UTSW 7 18,456,660 (GRCm39) missense possibly damaging 0.95
R7650:Psg22 UTSW 7 18,460,684 (GRCm39) missense possibly damaging 0.66
R7711:Psg22 UTSW 7 18,452,267 (GRCm39) critical splice donor site probably null
R7991:Psg22 UTSW 7 18,460,861 (GRCm39) missense probably damaging 1.00
R8001:Psg22 UTSW 7 18,453,671 (GRCm39) missense possibly damaging 0.79
R8003:Psg22 UTSW 7 18,458,350 (GRCm39) missense probably damaging 1.00
R8066:Psg22 UTSW 7 18,452,218 (GRCm39) missense possibly damaging 0.88
R8113:Psg22 UTSW 7 18,456,987 (GRCm39) missense probably benign 0.00
R9136:Psg22 UTSW 7 18,460,811 (GRCm39) missense probably damaging 1.00
R9148:Psg22 UTSW 7 18,460,682 (GRCm39) missense probably benign 0.09
R9152:Psg22 UTSW 7 18,460,646 (GRCm39) missense probably damaging 0.97
R9344:Psg22 UTSW 7 18,460,816 (GRCm39) missense possibly damaging 0.69
R9666:Psg22 UTSW 7 18,458,248 (GRCm39) missense probably benign
R9801:Psg22 UTSW 7 18,456,899 (GRCm39) missense probably benign 0.11
X0064:Psg22 UTSW 7 18,452,106 (GRCm39) missense probably benign 0.01
Z1177:Psg22 UTSW 7 18,453,602 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGACCACCACCAAGTAGGGTAG -3'
(R):5'- GAGCAGCAGAGATCCATTGC -3'

Sequencing Primer
(F):5'- CCACCAAGTAGGGTAGGGAGAC -3'
(R):5'- GCAGCAGAGATCCATTGCTGTAC -3'
Posted On 2017-10-10