Incidental Mutation 'R4428:Psg17'
ID 328274
Institutional Source Beutler Lab
Gene Symbol Psg17
Ensembl Gene ENSMUSG00000004540
Gene Name pregnancy specific beta-1-glycoprotein 17
Synonyms mmCGM5, Cea2, Cea-2
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18547862-18555516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 18550717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 379 (N379K)
Ref Sequence ENSEMBL: ENSMUSP00000004655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004655]
AlphaFold Q62056
Predicted Effect probably benign
Transcript: ENSMUST00000004655
AA Change: N379K

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004655
Gene: ENSMUSG00000004540
AA Change: N379K

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
IG 40 141 1.84e-2 SMART
IG 160 261 3.63e0 SMART
IG 280 381 2.03e-4 SMART
IGc2 397 461 2.35e-9 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging Het
Other mutations in Psg17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Psg17 APN 7 18,554,091 (GRCm39) missense probably damaging 1.00
IGL01649:Psg17 APN 7 18,550,727 (GRCm39) missense possibly damaging 0.60
IGL02171:Psg17 APN 7 18,552,712 (GRCm39) missense probably damaging 0.98
PIT4151001:Psg17 UTSW 7 18,548,530 (GRCm39) missense probably benign 0.26
R1178:Psg17 UTSW 7 18,548,380 (GRCm39) missense probably benign 0.13
R1767:Psg17 UTSW 7 18,550,727 (GRCm39) missense possibly damaging 0.60
R1991:Psg17 UTSW 7 18,548,577 (GRCm39) missense probably benign 0.02
R5285:Psg17 UTSW 7 18,554,126 (GRCm39) missense probably benign 0.01
R5507:Psg17 UTSW 7 18,553,851 (GRCm39) missense probably benign 0.04
R5516:Psg17 UTSW 7 18,548,458 (GRCm39) missense probably benign 0.30
R5837:Psg17 UTSW 7 18,554,140 (GRCm39) missense possibly damaging 0.58
R6481:Psg17 UTSW 7 18,548,375 (GRCm39) missense probably damaging 1.00
R6817:Psg17 UTSW 7 18,548,565 (GRCm39) missense probably damaging 1.00
R7124:Psg17 UTSW 7 18,548,422 (GRCm39) missense probably damaging 1.00
R7124:Psg17 UTSW 7 18,548,421 (GRCm39) missense probably damaging 1.00
R7243:Psg17 UTSW 7 18,552,640 (GRCm39) missense probably damaging 1.00
R7268:Psg17 UTSW 7 18,548,586 (GRCm39) missense possibly damaging 0.64
R7384:Psg17 UTSW 7 18,552,585 (GRCm39) missense possibly damaging 0.67
R7544:Psg17 UTSW 7 18,553,897 (GRCm39) missense probably benign 0.25
R7555:Psg17 UTSW 7 18,551,019 (GRCm39) missense probably benign 0.03
R7634:Psg17 UTSW 7 18,548,416 (GRCm39) missense probably damaging 1.00
R8716:Psg17 UTSW 7 18,555,310 (GRCm39) missense probably benign 0.30
R8755:Psg17 UTSW 7 18,550,836 (GRCm39) missense possibly damaging 0.64
R9105:Psg17 UTSW 7 18,555,333 (GRCm39) missense probably benign 0.04
R9145:Psg17 UTSW 7 18,553,851 (GRCm39) missense probably benign 0.01
R9296:Psg17 UTSW 7 18,553,991 (GRCm39) missense probably benign 0.10
Z1088:Psg17 UTSW 7 18,550,835 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ATGCTGTTAGTCCACCCCATG -3'
(R):5'- TGCAAACCTTTTCCTGGTACAAAG -3'

Sequencing Primer
(F):5'- CATGTGTGCCCTGCAGTAAG -3'
(R):5'- TCCTGGTACAAAGGCGTGTATAGC -3'
Posted On 2015-07-07