Incidental Mutation 'R1846:Ssbp2'
ID 207752
Institutional Source Beutler Lab
Gene Symbol Ssbp2
Ensembl Gene ENSMUSG00000003992
Gene Name single-stranded DNA binding protein 2
Synonyms 9330163K02Rik, A830008M03Rik, Hspc116, Ssdp2, 2310079I02Rik, 1500004K09Rik
MMRRC Submission 039871-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1846 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 91608402-91851548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91812268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 105 (P105L)
Ref Sequence ENSEMBL: ENSMUSP00000037115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004094] [ENSMUST00000042122] [ENSMUST00000231481]
AlphaFold Q9CYZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000004094
AA Change: P135L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004094
Gene: ENSMUSG00000003992
AA Change: P135L

DomainStartEndE-ValueType
LisH 18 50 2.18e-3 SMART
Pfam:SSDP 83 125 5.9e-19 PFAM
Pfam:SSDP 123 338 5.3e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000042122
AA Change: P105L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037115
Gene: ENSMUSG00000003992
AA Change: P105L

DomainStartEndE-ValueType
LisH 18 50 2.18e-3 SMART
Pfam:SSDP 94 313 2.7e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156547
Predicted Effect probably damaging
Transcript: ENSMUST00000231481
AA Change: P135L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.3679 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice exhibit some perinatal lethality and premature death associated with increased incidence of lymphoma and carcinoma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G A 7: 12,246,809 (GRCm39) R63Q probably benign Het
Adamts20 A T 15: 94,243,871 (GRCm39) C619S probably damaging Het
Alx1 T C 10: 102,861,165 (GRCm39) D121G possibly damaging Het
Anks3 A C 16: 4,771,748 (GRCm39) M215R probably benign Het
Anxa4 T A 6: 86,718,893 (GRCm39) probably null Het
Arhgef25 A G 10: 127,021,733 (GRCm39) V222A probably damaging Het
Bglap2 A G 3: 88,285,932 (GRCm39) probably benign Het
Cars2 A G 8: 11,564,674 (GRCm39) V22A probably benign Het
Ccdc198 G T 14: 49,473,420 (GRCm39) L102I probably damaging Het
Cenpe T A 3: 134,945,606 (GRCm39) I1040N probably damaging Het
Cep170 C T 1: 176,583,335 (GRCm39) D1015N probably damaging Het
Chia1 T A 3: 106,038,181 (GRCm39) I359N probably damaging Het
Crot A T 5: 9,038,248 (GRCm39) V93E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnmbp T C 19: 43,891,186 (GRCm39) I194V probably damaging Het
Dock4 T A 12: 40,783,267 (GRCm39) C734S probably benign Het
Eif4e3 T C 6: 99,617,662 (GRCm39) S70G probably benign Het
Entpd3 G A 9: 120,387,441 (GRCm39) D213N probably benign Het
Ern2 T G 7: 121,775,759 (GRCm39) Y445S probably benign Het
Fasn A G 11: 120,704,133 (GRCm39) S1429P probably benign Het
Fat4 A G 3: 39,036,532 (GRCm39) I3395V probably benign Het
Fbln2 C A 6: 91,233,399 (GRCm39) Q628K possibly damaging Het
Fbxo28 T C 1: 182,153,845 (GRCm39) N164D probably benign Het
Fez1 T C 9: 36,779,063 (GRCm39) S247P probably damaging Het
Gars1 A G 6: 55,040,153 (GRCm39) D360G probably benign Het
Gcfc2 A T 6: 81,933,873 (GRCm39) Q710L probably damaging Het
Ggt5 A G 10: 75,446,376 (GRCm39) probably null Het
Glp1r A G 17: 31,148,909 (GRCm39) probably null Het
Hspa14 T C 2: 3,492,697 (GRCm39) D356G possibly damaging Het
Htt T A 5: 35,006,288 (GRCm39) I1399N probably damaging Het
Kmt2e G A 5: 23,704,484 (GRCm39) probably benign Het
Krt36 C A 11: 99,996,374 (GRCm39) G17C probably damaging Het
Lama2 T C 10: 27,088,092 (GRCm39) E895G probably damaging Het
Lamb2 G A 9: 108,364,586 (GRCm39) R1142H probably benign Het
Lhcgr C T 17: 89,072,575 (GRCm39) probably null Het
Lpin2 A G 17: 71,532,064 (GRCm39) T140A probably benign Het
Metap1 A G 3: 138,186,443 (GRCm39) probably benign Het
Mpeg1 T C 19: 12,440,486 (GRCm39) V648A probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Muc4 T A 16: 32,752,369 (GRCm38) I749N probably benign Het
N4bp2 T C 5: 65,965,862 (GRCm39) F1304L probably damaging Het
Nup85 A G 11: 115,459,239 (GRCm39) E114G probably benign Het
Or2a5 A G 6: 42,874,254 (GRCm39) S290G probably damaging Het
Or4c10 A G 2: 89,761,010 (GRCm39) T286A possibly damaging Het
Or6b2b A T 1: 92,418,822 (GRCm39) Y218* probably null Het
Pafah2 GCCCC GCCCCC 4: 134,152,852 (GRCm39) probably null Het
Parp2 T A 14: 51,052,843 (GRCm39) C145* probably null Het
Plpp6 T C 19: 28,941,680 (GRCm39) S94P probably benign Het
Polr1a T C 6: 71,953,172 (GRCm39) I1580T probably damaging Het
Polrmt A T 10: 79,574,043 (GRCm39) V860E probably damaging Het
Ppp1r17 A G 6: 55,999,412 (GRCm39) E15G possibly damaging Het
Prl7b1 A T 13: 27,786,831 (GRCm39) W133R probably damaging Het
Ptk7 A G 17: 46,887,416 (GRCm39) probably null Het
Rad23b C T 4: 55,383,637 (GRCm39) Q290* probably null Het
Rorb C T 19: 18,932,445 (GRCm39) E369K probably damaging Het
Rusc1 T C 3: 88,999,452 (GRCm39) D110G probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Stt3a C T 9: 36,674,681 (GRCm39) R34H probably damaging Het
Sufu T A 19: 46,439,386 (GRCm39) I202N possibly damaging Het
Thsd7b G A 1: 129,540,993 (GRCm39) R289Q probably damaging Het
Tph1 A T 7: 46,309,863 (GRCm39) S130T probably damaging Het
Ttn A G 2: 76,776,030 (GRCm39) S1671P probably damaging Het
Usp4 A G 9: 108,249,935 (GRCm39) I441V probably benign Het
Vmn1r8 A G 6: 57,013,413 (GRCm39) N155D probably benign Het
Vmn2r115 A C 17: 23,578,357 (GRCm39) K610T probably damaging Het
Vmn2r62 G A 7: 42,438,546 (GRCm39) P97S probably damaging Het
Zbtb40 T C 4: 136,735,150 (GRCm39) D297G probably benign Het
Zfp174 C A 16: 3,672,599 (GRCm39) Q383K probably benign Het
Zfp318 T A 17: 46,724,592 (GRCm39) D2198E probably benign Het
Zfp628 C T 7: 4,923,866 (GRCm39) P696L possibly damaging Het
Zgrf1 T A 3: 127,409,112 (GRCm39) N1695K probably damaging Het
Other mutations in Ssbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Ssbp2 APN 13 91,817,871 (GRCm39) splice site probably benign
IGL02962:Ssbp2 APN 13 91,790,490 (GRCm39) missense possibly damaging 0.84
IGL03201:Ssbp2 APN 13 91,672,720 (GRCm39) missense probably damaging 1.00
R0190:Ssbp2 UTSW 13 91,817,829 (GRCm39) missense probably damaging 1.00
R0277:Ssbp2 UTSW 13 91,712,715 (GRCm39) splice site probably benign
R0329:Ssbp2 UTSW 13 91,828,698 (GRCm39) splice site probably null
R0330:Ssbp2 UTSW 13 91,828,698 (GRCm39) splice site probably null
R1551:Ssbp2 UTSW 13 91,790,511 (GRCm39) critical splice donor site probably null
R1957:Ssbp2 UTSW 13 91,812,303 (GRCm39) splice site probably benign
R3732:Ssbp2 UTSW 13 91,672,726 (GRCm39) missense probably damaging 1.00
R3744:Ssbp2 UTSW 13 91,828,765 (GRCm39) splice site probably benign
R4469:Ssbp2 UTSW 13 91,842,175 (GRCm39) missense probably damaging 1.00
R4665:Ssbp2 UTSW 13 91,687,454 (GRCm39) missense possibly damaging 0.48
R4724:Ssbp2 UTSW 13 91,836,933 (GRCm39) missense possibly damaging 0.70
R5477:Ssbp2 UTSW 13 91,812,244 (GRCm39) missense probably damaging 0.98
R6015:Ssbp2 UTSW 13 91,817,862 (GRCm39) critical splice donor site probably null
R6332:Ssbp2 UTSW 13 91,839,027 (GRCm39) missense probably benign 0.01
R6523:Ssbp2 UTSW 13 91,841,170 (GRCm39) missense probably benign 0.09
R6548:Ssbp2 UTSW 13 91,687,470 (GRCm39) missense possibly damaging 0.91
R6655:Ssbp2 UTSW 13 91,812,268 (GRCm39) missense probably damaging 1.00
R7227:Ssbp2 UTSW 13 91,823,244 (GRCm39) missense probably benign 0.00
R7295:Ssbp2 UTSW 13 91,842,122 (GRCm39) splice site probably null
R7401:Ssbp2 UTSW 13 91,839,002 (GRCm39) missense probably benign 0.43
R7488:Ssbp2 UTSW 13 91,823,209 (GRCm39) missense probably damaging 0.99
R7823:Ssbp2 UTSW 13 91,790,448 (GRCm39) missense possibly damaging 0.95
R8884:Ssbp2 UTSW 13 91,836,989 (GRCm39) splice site probably benign
R9147:Ssbp2 UTSW 13 91,842,141 (GRCm39) missense probably damaging 1.00
R9148:Ssbp2 UTSW 13 91,842,141 (GRCm39) missense probably damaging 1.00
R9182:Ssbp2 UTSW 13 91,848,800 (GRCm39) missense probably damaging 0.97
R9255:Ssbp2 UTSW 13 91,818,525 (GRCm39) missense possibly damaging 0.93
R9449:Ssbp2 UTSW 13 91,823,157 (GRCm39) missense probably benign 0.02
X0026:Ssbp2 UTSW 13 91,817,807 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- GCAGGATGACAATTTTCTTGGAAG -3'
(R):5'- TTTCCCTGTTCCAACAAAACTTAGC -3'

Sequencing Primer
(F):5'- AAGCTTTTGTTCTGCTGGAAAC -3'
(R):5'- AGTCAGTCAGCACACAGTCTGG -3'
Posted On 2014-06-23