Incidental Mutation 'R8292:Srgn'
ID 638752
Institutional Source Beutler Lab
Gene Symbol Srgn
Ensembl Gene ENSMUSG00000020077
Gene Name serglycin
Synonyms Prg1, Sgc
MMRRC Submission 067782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R8292 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62329612-62363224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62343447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 16 (V16D)
Ref Sequence ENSEMBL: ENSMUSP00000020271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020271] [ENSMUST00000159020] [ENSMUST00000160643] [ENSMUST00000160987] [ENSMUST00000162161]
AlphaFold P13609
Predicted Effect possibly damaging
Transcript: ENSMUST00000020271
AA Change: V16D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020271
Gene: ENSMUSG00000020077
AA Change: V16D

DomainStartEndE-ValueType
Pfam:Serglycin 1 151 9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159020
Predicted Effect possibly damaging
Transcript: ENSMUST00000160643
AA Change: V16D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000160987
AA Change: V16D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125622
Gene: ENSMUSG00000020077
AA Change: V16D

DomainStartEndE-ValueType
Pfam:Serglycin 1 149 8.3e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162161
AA Change: V16D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125533
Gene: ENSMUSG00000020077
AA Change: V16D

DomainStartEndE-ValueType
Pfam:Serglycin 1 151 9e-75 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene lack peritoneal mast cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,338,555 (GRCm39) probably null Het
Akirin2 T C 4: 34,566,007 (GRCm39) probably null Het
Akr1c14 A G 13: 4,130,995 (GRCm39) D229G possibly damaging Het
Arfgef1 T C 1: 10,227,194 (GRCm39) I1382V probably benign Het
Bcas3 C A 11: 85,348,729 (GRCm39) A207D probably damaging Het
Bcl2l10 T C 9: 75,255,160 (GRCm39) probably benign Het
Cdc42 T C 4: 137,063,384 (GRCm39) T3A probably benign Het
Celsr1 C A 15: 85,791,819 (GRCm39) W2594L possibly damaging Het
Chrna6 A T 8: 27,896,754 (GRCm39) H374Q probably benign Het
Cibar1 T G 4: 12,153,963 (GRCm39) T330P possibly damaging Het
Clcnka G A 4: 141,125,272 (GRCm39) R30* probably null Het
Clptm1l A T 13: 73,765,854 (GRCm39) H464L probably damaging Het
Col6a4 A T 9: 105,954,076 (GRCm39) M421K probably benign Het
Crybg2 T C 4: 133,802,842 (GRCm39) S873P probably damaging Het
Dixdc1 A G 9: 50,621,989 (GRCm39) V114A probably benign Het
Etv6 T C 6: 134,225,509 (GRCm39) C247R probably benign Het
Farp2 T C 1: 93,456,350 (GRCm39) L11S probably damaging Het
Gbp2 G A 3: 142,329,584 (GRCm39) V44M probably damaging Het
Get4 A G 5: 139,248,686 (GRCm39) D99G probably null Het
Glcci1 G A 6: 8,558,549 (GRCm39) R212H probably damaging Het
Gm14295 T A 2: 176,501,351 (GRCm39) F280L probably damaging Het
Gm5407 T A 16: 49,117,550 (GRCm39) N70Y noncoding transcript Het
Hace1 C G 10: 45,587,557 (GRCm39) Y885* probably null Het
Hectd4 G A 5: 121,455,288 (GRCm39) R644Q possibly damaging Het
Impg2 A T 16: 56,080,989 (GRCm39) E931V probably damaging Het
Kif5c A T 2: 49,625,497 (GRCm39) Y589F probably benign Het
Krr1 T A 10: 111,813,021 (GRCm39) V132E possibly damaging Het
Luzp1 T G 4: 136,269,764 (GRCm39) D662E probably benign Het
Mc4r A T 18: 66,993,082 (GRCm39) Y10* probably null Het
Mfng T C 15: 78,657,370 (GRCm39) I35V probably benign Het
Mprip T A 11: 59,650,340 (GRCm39) I1348K probably benign Het
Mrgprb3 G T 7: 48,293,255 (GRCm39) Q99K probably benign Het
Mrgprb4 A T 7: 47,848,554 (GRCm39) S125T probably damaging Het
Mrgprg A T 7: 143,318,656 (GRCm39) M152K probably benign Het
Muc5ac A C 7: 141,363,000 (GRCm39) I2104L unknown Het
Myom2 A G 8: 15,182,888 (GRCm39) I1442V probably benign Het
Nell1 T C 7: 49,907,995 (GRCm39) C385R probably damaging Het
Nid2 T G 14: 19,818,346 (GRCm39) V280G probably damaging Het
Npr2 T A 4: 43,643,086 (GRCm39) M490K possibly damaging Het
Prr12 A G 7: 44,684,112 (GRCm39) F1643L probably damaging Het
Psg16 G A 7: 16,827,701 (GRCm39) G128D probably damaging Het
Racgap1 A T 15: 99,520,127 (GRCm39) L595* probably null Het
Rbbp8 T C 18: 11,838,769 (GRCm39) V150A probably benign Het
Rbbp9 T C 2: 144,390,017 (GRCm39) T49A probably benign Het
Rbm20 C A 19: 53,839,930 (GRCm39) T973K possibly damaging Het
Robo1 A T 16: 72,769,420 (GRCm39) I582F possibly damaging Het
Rps6ka5 A T 12: 100,644,791 (GRCm39) V53D possibly damaging Het
Slc35f6 G T 5: 30,813,375 (GRCm39) V156L probably benign Het
Smpd3 T C 8: 106,991,422 (GRCm39) H377R probably benign Het
Son G A 16: 91,453,545 (GRCm39) S764N possibly damaging Het
Tex14 G A 11: 87,388,664 (GRCm39) R297Q probably damaging Het
Tiam2 T C 17: 3,557,142 (GRCm39) V1194A probably benign Het
Tlr6 A C 5: 65,111,134 (GRCm39) L591R probably damaging Het
Tmem143 A G 7: 45,558,964 (GRCm39) K302R probably damaging Het
Ttc28 A G 5: 111,371,123 (GRCm39) Y555C probably damaging Het
Usp32 T A 11: 84,968,227 (GRCm39) K145N probably damaging Het
Zbtb40 T C 4: 136,726,878 (GRCm39) Y486C probably damaging Het
Other mutations in Srgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB008:Srgn UTSW 10 62,330,763 (GRCm39) missense possibly damaging 0.71
BB018:Srgn UTSW 10 62,330,763 (GRCm39) missense possibly damaging 0.71
R2120:Srgn UTSW 10 62,343,413 (GRCm39) splice site probably benign
R3704:Srgn UTSW 10 62,333,609 (GRCm39) missense probably damaging 0.99
R4155:Srgn UTSW 10 62,333,613 (GRCm39) missense possibly damaging 0.92
R4156:Srgn UTSW 10 62,333,613 (GRCm39) missense possibly damaging 0.92
R4157:Srgn UTSW 10 62,333,613 (GRCm39) missense possibly damaging 0.92
R4782:Srgn UTSW 10 62,333,631 (GRCm39) missense possibly damaging 0.95
R5169:Srgn UTSW 10 62,330,866 (GRCm39) missense probably damaging 1.00
R7595:Srgn UTSW 10 62,343,785 (GRCm39) unclassified probably benign
R7645:Srgn UTSW 10 62,330,757 (GRCm39) nonsense probably null
R7931:Srgn UTSW 10 62,330,763 (GRCm39) missense possibly damaging 0.71
R8324:Srgn UTSW 10 62,343,444 (GRCm39) missense probably damaging 0.99
R9574:Srgn UTSW 10 62,343,444 (GRCm39) missense probably damaging 0.99
R9641:Srgn UTSW 10 62,330,884 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TAAGGCCACCACTTACCTTAGAG -3'
(R):5'- AGGAAACTGTGACGTGTGTTC -3'

Sequencing Primer
(F):5'- ACTCAAGTAAACTCACACGAGG -3'
(R):5'- AAACTGTGACGTGTGTTCTTGGG -3'
Posted On 2020-07-28