Incidental Mutation 'PIT4151001:Psg17'
ID 557026
Institutional Source Beutler Lab
Gene Symbol Psg17
Ensembl Gene ENSMUSG00000004540
Gene Name pregnancy specific beta-1-glycoprotein 17
Synonyms mmCGM5, Cea2, Cea-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4151001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 18547862-18555516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18548530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 414 (S414P)
Ref Sequence ENSEMBL: ENSMUSP00000004655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004655]
AlphaFold Q62056
Predicted Effect probably benign
Transcript: ENSMUST00000004655
AA Change: S414P

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000004655
Gene: ENSMUSG00000004540
AA Change: S414P

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
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.4%
  • 10x: 84.6%
  • 20x: 72.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,930,670 (GRCm39) L1389P probably damaging Het
Acot10 C T 15: 20,666,684 (GRCm39) G19D probably damaging Het
Adam20 G A 8: 41,248,081 (GRCm39) V64I possibly damaging Het
Ak6 T A 13: 100,791,603 (GRCm39) D15E probably damaging Het
Atp1a2 A G 1: 172,118,288 (GRCm39) Y129H probably damaging Het
Caskin1 C T 17: 24,721,193 (GRCm39) T511I probably damaging Het
Casp9 C T 4: 141,521,259 (GRCm39) R32* probably null Het
Ccdc40 A G 11: 119,133,277 (GRCm39) E445G probably damaging Het
Cct8 T C 16: 87,284,545 (GRCm39) E273G probably damaging Het
Chd5 G A 4: 152,462,986 (GRCm39) V1380I probably damaging Het
Coro2b C T 9: 62,336,286 (GRCm39) G272D probably damaging Het
Cyp4a10 C A 4: 115,382,072 (GRCm39) H251Q probably damaging Het
Dgki A T 6: 37,040,916 (GRCm39) H298Q probably benign Het
Dnmt3b T G 2: 153,526,399 (GRCm39) probably null Het
Dzip1 A G 14: 119,160,200 (GRCm39) F3L probably damaging Het
Egf A G 3: 129,496,198 (GRCm39) S807P probably benign Het
Emc10 C T 7: 44,142,627 (GRCm39) R105H Het
Enthd1 T C 15: 80,336,937 (GRCm39) E499G probably damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Fer1l5 T A 1: 36,450,728 (GRCm39) M1242K probably benign Het
Gm3415 A G 5: 146,493,079 (GRCm39) R36G probably benign Het
Gm5797 C A 14: 7,330,318 (GRCm38) M114I possibly damaging Het
Gmppa A T 1: 75,418,468 (GRCm39) R284* probably null Het
Homer1 G C 13: 93,485,724 (GRCm39) K118N probably damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kcnc4 G A 3: 107,366,019 (GRCm39) A63V probably damaging Het
Kif11 T A 19: 37,373,045 (GRCm39) I88N probably damaging Het
Krba1 T C 6: 48,379,831 (GRCm39) F9S probably damaging Het
Nckap1 A G 2: 80,350,714 (GRCm39) probably null Het
Nox4 A T 7: 86,954,097 (GRCm39) Y134F probably benign Het
Or4a79 T A 2: 89,552,237 (GRCm39) T73S probably benign Het
Or51f23c-ps1 T C 7: 102,431,465 (GRCm39) S261P probably benign Het
Or52e15 A G 7: 104,645,424 (GRCm39) L229P probably damaging Het
Or5m13b T A 2: 85,754,386 (GRCm39) M258K probably damaging Het
Or5m8 T C 2: 85,822,538 (GRCm39) C126R probably damaging Het
Or8k22 G T 2: 86,163,173 (GRCm39) H176N possibly damaging Het
Pcdh17 G T 14: 84,684,798 (GRCm39) V422L probably benign Het
Pcx T A 19: 4,653,157 (GRCm39) V275E probably damaging Het
Pde6h A T 6: 136,938,185 (GRCm39) M53L possibly damaging Het
Phactr3 A T 2: 177,975,861 (GRCm39) E535D probably damaging Het
Pkn3 C A 2: 29,980,539 (GRCm39) T810N probably damaging Het
Pnpla5 T C 15: 84,002,827 (GRCm39) E252G probably damaging Het
Pramel21 T A 4: 143,342,722 (GRCm39) C276* probably null Het
Pzp T A 6: 128,502,259 (GRCm39) Q30L probably benign Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Ret T C 6: 118,141,702 (GRCm39) D975G probably benign Het
Sarnp A G 10: 128,713,235 (GRCm39) I209V probably benign Het
Sorl1 A T 9: 41,879,918 (GRCm39) V2210D probably damaging Het
Stard9 C T 2: 120,533,237 (GRCm39) Q3165* probably null Het
Tmem64 A T 4: 15,283,159 (GRCm39) I319F probably damaging Het
Vmn1r176 A T 7: 23,534,808 (GRCm39) V115D probably damaging Het
Vmn1r2 A G 4: 3,172,623 (GRCm39) T181A probably benign Het
Vmn2r2 T C 3: 64,024,334 (GRCm39) E749G possibly damaging Het
Vps35 G A 8: 86,010,677 (GRCm39) T222I possibly damaging Het
Zfp532 A G 18: 65,757,485 (GRCm39) T473A probably damaging Het
Zfyve16 A G 13: 92,657,712 (GRCm39) V733A probably damaging Het
Zranb1 T A 7: 132,551,723 (GRCm39) S125T probably benign 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
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
R4428:Psg17 UTSW 7 18,550,717 (GRCm39) missense probably benign 0.31
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'- CGATCATCACAGCCAGGATG -3'
(R):5'- AGCACAAGACATGACTGTAGTC -3'

Sequencing Primer
(F):5'- CAGGATGACTGGGAGACTGGTC -3'
(R):5'- CCCTGGAAGCTTTACTTATGCAAG -3'
Posted On 2019-06-07