Incidental Mutation 'R3151:Ssr2'
ID 264387
Institutional Source Beutler Lab
Gene Symbol Ssr2
Ensembl Gene ENSMUSG00000041355
Gene Name signal sequence receptor, beta
Synonyms TRAPbeta
MMRRC Submission 040603-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3151 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 88486915-88495727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88487323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 46 (I46T)
Ref Sequence ENSEMBL: ENSMUSP00000141325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035785] [ENSMUST00000192495] [ENSMUST00000192688] [ENSMUST00000193069] [ENSMUST00000193934] [ENSMUST00000194604] [ENSMUST00000195014]
AlphaFold Q9CPW5
Predicted Effect probably damaging
Transcript: ENSMUST00000035785
AA Change: I46T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045456
Gene: ENSMUSG00000041355
AA Change: I46T

DomainStartEndE-ValueType
Pfam:TRAP_beta 3 181 5.8e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098952
SMART Domains Protein: ENSMUSP00000136672
Gene: ENSMUSG00000074479

DomainStartEndE-ValueType
Pfam:RLL 2 244 2.6e-92 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192495
AA Change: I46T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141922
Gene: ENSMUSG00000041355
AA Change: I46T

DomainStartEndE-ValueType
Pfam:TRAP_beta 1 183 1.2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192688
AA Change: I46T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141471
Gene: ENSMUSG00000041355
AA Change: I46T

DomainStartEndE-ValueType
Pfam:TRAP_beta 1 117 5.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193069
Predicted Effect probably damaging
Transcript: ENSMUST00000193934
AA Change: I46T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141325
Gene: ENSMUSG00000041355
AA Change: I46T

DomainStartEndE-ValueType
Pfam:TRAP_beta 1 74 9e-25 PFAM
Pfam:TRAP_beta 72 162 1.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194604
Predicted Effect probably damaging
Transcript: ENSMUST00000195014
AA Change: I46T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141441
Gene: ENSMUSG00000041355
AA Change: I46T

DomainStartEndE-ValueType
Pfam:TRAP_beta 1 181 2e-74 PFAM
Meta Mutation Damage Score 0.8727 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A G 8: 25,271,647 (GRCm39) Y587H probably damaging Het
Ahnak T C 19: 8,987,308 (GRCm39) V2864A probably benign Het
Ano2 G A 6: 125,990,280 (GRCm39) probably null Het
Arl5c A G 11: 97,883,159 (GRCm39) I147T probably damaging Het
Asap2 T A 12: 21,274,378 (GRCm39) F369I probably damaging Het
Atg4a-ps A G 3: 103,553,228 (GRCm39) F38L probably benign Het
B230217C12Rik TGTGTCG TG 11: 97,733,014 (GRCm39) probably null Het
Cacna1s A T 1: 136,033,532 (GRCm39) Y1003F probably damaging Het
Ccdc178 A T 18: 21,944,618 (GRCm39) M847K probably benign Het
Clca4b T C 3: 144,621,272 (GRCm39) K601E probably benign Het
Cnih4 A G 1: 180,981,292 (GRCm39) probably benign Het
Cnpy3 A T 17: 47,058,452 (GRCm39) V57E probably damaging Het
Creb3l1 T A 2: 91,832,378 (GRCm39) E48V probably damaging Het
Dus3l T A 17: 57,075,899 (GRCm39) F482I probably benign Het
Dync1i2 A G 2: 71,064,060 (GRCm39) probably benign Het
Echdc1 A G 10: 29,198,360 (GRCm39) T102A possibly damaging Het
Elf1 G A 14: 79,804,755 (GRCm39) probably null Het
Elp1 T C 4: 56,770,985 (GRCm39) Y986C probably benign Het
Ep400 G T 5: 110,851,435 (GRCm39) T1349N unknown Het
Eps15 T A 4: 109,223,419 (GRCm39) D458E probably benign Het
F2rl2 G A 13: 95,837,638 (GRCm39) V228I probably benign Het
Fads3 T G 19: 10,035,262 (GRCm39) S438A probably benign Het
Fcgbp T A 7: 27,816,665 (GRCm39) C2376S probably damaging Het
Fndc3b A G 3: 27,473,652 (GRCm39) S1138P possibly damaging Het
Ggt5 T C 10: 75,445,076 (GRCm39) I361T probably benign Het
Gpr158 C T 2: 21,581,771 (GRCm39) R417W possibly damaging Het
Gria1 A G 11: 57,174,388 (GRCm39) I626V probably damaging Het
Gys2 T C 6: 142,402,059 (GRCm39) E260G probably benign Het
Ido2 T A 8: 25,023,776 (GRCm39) Y354F possibly damaging Het
Igkv6-23 A G 6: 70,237,543 (GRCm39) L66P probably benign Het
Kremen1 T C 11: 5,145,012 (GRCm39) K455E probably damaging Het
Krtap19-9b T C 16: 88,729,096 (GRCm39) S2G unknown Het
Magea1 A T X: 153,872,093 (GRCm39) M211K probably benign Het
Mtx2 G A 2: 74,677,634 (GRCm39) probably null Het
Nlrp14 G A 7: 106,781,759 (GRCm39) V319I probably benign Het
Nphs1 A T 7: 30,159,665 (GRCm39) T33S probably benign Het
Or12j2 A T 7: 139,916,243 (GRCm39) H156L probably benign Het
Or2t6 T A 14: 14,175,203 (GRCm38) N293I probably damaging Het
Or3a1c A T 11: 74,046,466 (GRCm39) H162L probably damaging Het
P2rx7 A G 5: 122,819,329 (GRCm39) T584A probably benign Het
Pclo A G 5: 14,571,692 (GRCm39) Q359R probably damaging Het
Phtf2 T C 5: 20,970,802 (GRCm39) E147G probably damaging Het
Ptges2 G A 2: 32,286,488 (GRCm39) A68T probably benign Het
Rab33b A T 3: 51,401,069 (GRCm39) N181I possibly damaging Het
Rnf213 A T 11: 119,359,718 (GRCm39) R4370S probably benign Het
Rpf1 G A 3: 146,213,390 (GRCm39) R254W probably damaging Het
Serpinb7 A T 1: 107,363,081 (GRCm39) R82* probably null Het
Setbp1 A G 18: 78,900,650 (GRCm39) S1006P probably damaging Het
Spata31d1a T C 13: 59,849,180 (GRCm39) S983G probably benign Het
Ssx2ip G A 3: 146,124,138 (GRCm39) G51D probably benign Het
Synj1 A T 16: 90,757,514 (GRCm39) L878H probably damaging Het
Th G A 7: 142,447,812 (GRCm39) Q329* probably null Het
Tln2 C T 9: 67,237,829 (GRCm39) probably null Het
Trio A G 15: 27,805,862 (GRCm39) L542P probably damaging Het
Trp53bp2 A G 1: 182,256,525 (GRCm39) T32A probably damaging Het
Vmn1r40 A T 6: 89,691,548 (GRCm39) T122S probably benign Het
Vmn2r121 C T X: 123,040,849 (GRCm39) C494Y probably benign Het
Vmn2r51 A T 7: 9,833,968 (GRCm39) Y357N probably damaging Het
Vmn2r55 G T 7: 12,404,634 (GRCm39) S256R probably benign Het
Vps8 A G 16: 21,261,123 (GRCm39) T88A probably benign Het
Zfp977 A C 7: 42,229,870 (GRCm39) N218K probably benign Het
Other mutations in Ssr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Ssr2 APN 3 88,491,095 (GRCm39) splice site probably null
R1991_Ssr2_077 UTSW 3 88,484,174 (GRCm39) unclassified probably benign
R3151_Ssr2_387 UTSW 3 88,487,323 (GRCm39) missense probably damaging 0.99
R0086:Ssr2 UTSW 3 88,484,187 (GRCm39) unclassified probably benign
R1321:Ssr2 UTSW 3 88,484,261 (GRCm39) unclassified probably benign
R1681:Ssr2 UTSW 3 88,488,349 (GRCm39) missense possibly damaging 0.47
R1870:Ssr2 UTSW 3 88,483,949 (GRCm39) unclassified probably benign
R1991:Ssr2 UTSW 3 88,484,174 (GRCm39) unclassified probably benign
R2141:Ssr2 UTSW 3 88,483,949 (GRCm39) unclassified probably benign
R5846:Ssr2 UTSW 3 88,488,379 (GRCm39) missense probably damaging 1.00
R8088:Ssr2 UTSW 3 88,487,190 (GRCm39) missense possibly damaging 0.93
R9106:Ssr2 UTSW 3 88,495,269 (GRCm39) missense probably damaging 1.00
R9647:Ssr2 UTSW 3 88,487,206 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GGGTCGATTGCTCACTTTGC -3'
(R):5'- CCCCAAAGTGGTTTCTTGTAATTC -3'

Sequencing Primer
(F):5'- GGCTTTTGGCCTCCAAAT -3'
(R):5'- GGATGTCTTCACCTTCAAAAAGC -3'
Posted On 2015-02-05