Incidental Mutation 'R6220:Adam30'
ID 503937
Institutional Source Beutler Lab
Gene Symbol Adam30
Ensembl Gene ENSMUSG00000043468
Gene Name a disintegrin and metallopeptidase domain 30
Synonyms 4933424D07Rik
MMRRC Submission 044352-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 98067950-98071485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98068625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 153 (S153C)
Ref Sequence ENSEMBL: ENSMUSP00000060505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050342] [ENSMUST00000198363]
AlphaFold Q811Q3
Predicted Effect probably damaging
Transcript: ENSMUST00000050342
AA Change: S153C

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: S153C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pep_M12B_propep 36 159 5.7e-20 PFAM
low complexity region 176 187 N/A INTRINSIC
Pfam:Reprolysin 202 393 1.1e-31 PFAM
DISIN 407 482 1.6e-32 SMART
ACR 483 625 1.84e-52 SMART
transmembrane domain 690 712 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000198363
AA Change: S25C

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142590
Gene: ENSMUSG00000043468
AA Change: S25C

DomainStartEndE-ValueType
low complexity region 48 59 N/A INTRINSIC
Pfam:Reprolysin_5 72 259 2.6e-6 PFAM
Pfam:Reprolysin 74 265 2.1e-29 PFAM
Pfam:Reprolysin_3 101 220 1.1e-4 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,135,578 (GRCm39) D160G probably damaging Het
Acap1 A G 11: 69,780,505 (GRCm39) F15S probably damaging Het
Afp A T 5: 90,652,269 (GRCm39) D420V possibly damaging Het
Ak9 T A 10: 41,246,095 (GRCm39) H729Q unknown Het
Armh3 T C 19: 45,834,554 (GRCm39) E618G possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bcr A G 10: 74,898,124 (GRCm39) T423A probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ctns T C 11: 73,083,954 (GRCm39) T23A probably benign Het
Ddx54 T A 5: 120,758,754 (GRCm39) N332K probably benign Het
Dysf T A 6: 84,126,727 (GRCm39) I1344N probably damaging Het
Elovl3 A T 19: 46,122,939 (GRCm39) M172L probably benign Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Filip1l T A 16: 57,390,352 (GRCm39) N313K probably benign Het
Foxp2 C A 6: 15,437,947 (GRCm39) T716K probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10645 A G 8: 83,892,386 (GRCm39) probably benign Het
Gm10735 T C 13: 113,178,030 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gorasp2 T C 2: 70,521,134 (GRCm39) L388P probably damaging Het
Heatr5b A G 17: 79,081,106 (GRCm39) L1382P probably damaging Het
Herc1 A G 9: 66,341,070 (GRCm39) Y1729C probably damaging Het
Ifi207 A T 1: 173,557,112 (GRCm39) L542H probably damaging Het
Ighv3-5 T A 12: 114,226,338 (GRCm39) N96I probably damaging Het
Isl1 T C 13: 116,439,803 (GRCm39) T182A probably benign Het
Jph4 T C 14: 55,347,542 (GRCm39) E421G probably benign Het
Lrrc45 T C 11: 120,610,353 (GRCm39) I488T probably benign Het
Mroh8 A G 2: 157,075,083 (GRCm39) I471T probably benign Het
Ms4a2 A T 19: 11,594,927 (GRCm39) D96E probably damaging Het
Mst1r T A 9: 107,784,547 (GRCm39) N68K probably benign Het
Myo18b A G 5: 112,905,373 (GRCm39) M2075T possibly damaging Het
Neb T C 2: 52,160,984 (GRCm39) K2229R probably null Het
Nkx6-3 T A 8: 23,643,987 (GRCm39) probably null Het
Nlrp1a C A 11: 71,033,164 (GRCm39) S10I probably benign Het
Npas2 A T 1: 39,375,142 (GRCm39) T487S probably benign Het
Nrxn1 G C 17: 91,395,904 (GRCm39) T84R probably benign Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh18 A G 3: 49,699,700 (GRCm39) C921R probably damaging Het
Pcdha9 A G 18: 37,131,531 (GRCm39) Y200C probably damaging Het
Pknox1 A T 17: 31,822,177 (GRCm39) R315* probably null Het
Rasgrp1 C T 2: 117,115,410 (GRCm39) W726* probably null Het
Rassf8 G A 6: 145,762,859 (GRCm39) R402H probably damaging Het
Rev3l T A 10: 39,698,775 (GRCm39) Y1091N probably damaging Het
Riok3 T G 18: 12,282,608 (GRCm39) V349G probably damaging Het
Rps18 A T 17: 34,174,110 (GRCm39) V15E probably damaging Het
Rptor A T 11: 119,788,268 (GRCm39) Y1323F possibly damaging Het
Rspry1 T C 8: 95,385,378 (GRCm39) C437R probably damaging Het
Sema5a T A 15: 32,686,875 (GRCm39) Y996N probably damaging Het
Smarcad1 A G 6: 65,091,313 (GRCm39) I1011M probably benign Het
Supv3l1 A T 10: 62,274,800 (GRCm39) M295K possibly damaging Het
Sv2c T C 13: 96,113,134 (GRCm39) D605G probably damaging Het
Teddm1b G A 1: 153,750,947 (GRCm39) W252* probably null Het
Tes T A 6: 17,086,195 (GRCm39) C29* probably null Het
Thsd4 A G 9: 59,890,030 (GRCm39) W856R probably damaging Het
Treml4 A T 17: 48,571,876 (GRCm39) D93V possibly damaging Het
Trim66 T C 7: 109,082,300 (GRCm39) T218A probably damaging Het
Tssk5 T C 15: 76,257,973 (GRCm39) D128G probably damaging Het
Ubr3 T A 2: 69,850,819 (GRCm39) W1746R probably damaging Het
Vmn2r11 T C 5: 109,201,434 (GRCm39) I357V probably benign Het
Vmn2r87 A T 10: 130,315,807 (GRCm39) D86E probably benign Het
Zfp184 T G 13: 22,144,377 (GRCm39) H694Q probably damaging Het
Zranb3 A C 1: 127,927,141 (GRCm39) F341L probably benign Het
Other mutations in Adam30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Adam30 APN 3 98,069,486 (GRCm39) missense probably benign 0.01
IGL01630:Adam30 APN 3 98,069,171 (GRCm39) missense possibly damaging 0.83
IGL01825:Adam30 APN 3 98,069,217 (GRCm39) missense probably damaging 0.96
IGL02033:Adam30 APN 3 98,068,787 (GRCm39) missense probably benign 0.13
IGL03157:Adam30 APN 3 98,069,612 (GRCm39) missense possibly damaging 0.85
IGL03330:Adam30 APN 3 98,069,772 (GRCm39) missense probably damaging 1.00
R0512:Adam30 UTSW 3 98,069,441 (GRCm39) missense probably damaging 1.00
R1082:Adam30 UTSW 3 98,069,606 (GRCm39) missense probably benign 0.30
R1173:Adam30 UTSW 3 98,070,222 (GRCm39) missense probably benign 0.07
R1463:Adam30 UTSW 3 98,069,841 (GRCm39) missense probably damaging 1.00
R1771:Adam30 UTSW 3 98,068,835 (GRCm39) missense possibly damaging 0.94
R1862:Adam30 UTSW 3 98,069,429 (GRCm39) nonsense probably null
R3442:Adam30 UTSW 3 98,069,886 (GRCm39) missense probably benign 0.35
R4125:Adam30 UTSW 3 98,068,679 (GRCm39) missense probably damaging 1.00
R4714:Adam30 UTSW 3 98,070,170 (GRCm39) missense probably damaging 1.00
R4816:Adam30 UTSW 3 98,070,061 (GRCm39) missense possibly damaging 0.68
R5447:Adam30 UTSW 3 98,068,659 (GRCm39) missense probably benign 0.09
R5958:Adam30 UTSW 3 98,069,280 (GRCm39) missense probably damaging 1.00
R6175:Adam30 UTSW 3 98,070,266 (GRCm39) missense probably damaging 1.00
R6338:Adam30 UTSW 3 98,068,857 (GRCm39) missense probably damaging 1.00
R6365:Adam30 UTSW 3 98,068,350 (GRCm39) missense probably damaging 0.99
R6998:Adam30 UTSW 3 98,070,026 (GRCm39) missense probably benign 0.03
R7086:Adam30 UTSW 3 98,068,635 (GRCm39) missense probably damaging 1.00
R7290:Adam30 UTSW 3 98,070,257 (GRCm39) missense probably benign 0.00
R7340:Adam30 UTSW 3 98,069,637 (GRCm39) missense probably benign 0.14
R8181:Adam30 UTSW 3 98,070,291 (GRCm39) missense probably benign
R8725:Adam30 UTSW 3 98,070,348 (GRCm39) missense possibly damaging 0.96
R8727:Adam30 UTSW 3 98,070,348 (GRCm39) missense possibly damaging 0.96
R8913:Adam30 UTSW 3 98,068,580 (GRCm39) missense possibly damaging 0.68
R8977:Adam30 UTSW 3 98,069,378 (GRCm39) missense probably damaging 0.98
R9008:Adam30 UTSW 3 98,070,034 (GRCm39) nonsense probably null
R9126:Adam30 UTSW 3 98,068,307 (GRCm39) missense probably benign 0.00
R9181:Adam30 UTSW 3 98,070,194 (GRCm39) missense probably benign 0.05
R9274:Adam30 UTSW 3 98,069,267 (GRCm39) missense probably benign 0.06
R9338:Adam30 UTSW 3 98,070,129 (GRCm39) missense probably damaging 1.00
R9636:Adam30 UTSW 3 98,068,312 (GRCm39) missense probably benign 0.06
R9640:Adam30 UTSW 3 98,069,620 (GRCm39) missense probably damaging 1.00
R9651:Adam30 UTSW 3 98,069,936 (GRCm39) missense possibly damaging 0.92
Z1176:Adam30 UTSW 3 98,069,676 (GRCm39) missense possibly damaging 0.92
Z1177:Adam30 UTSW 3 98,068,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCACTCAAGAGGGCAGTC -3'
(R):5'- CCTAGACATATTGCCACGGG -3'

Sequencing Primer
(F):5'- CAGTCTGATAGAGGATTATCCGC -3'
(R):5'- GGGCAAACACGAATCTATCCAGG -3'
Posted On 2018-02-27