Incidental Mutation 'R9049:Adam7'
ID 688262
Institutional Source Beutler Lab
Gene Symbol Adam7
Ensembl Gene ENSMUSG00000022056
Gene Name a disintegrin and metallopeptidase domain 7
Synonyms EAP1
MMRRC Submission 068875-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R9049 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 68734785-68771138 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 68762674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 184 (V184F)
Ref Sequence ENSEMBL: ENSMUSP00000022640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022640]
AlphaFold O35227
Predicted Effect probably benign
Transcript: ENSMUST00000022640
AA Change: V184F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000022640
Gene: ENSMUSG00000022056
AA Change: V184F

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 25 156 1.6e-28 PFAM
Pfam:Reprolysin_5 197 378 1.2e-12 PFAM
Pfam:Reprolysin_4 197 382 2.6e-12 PFAM
Pfam:Reprolysin 199 393 1.3e-70 PFAM
Pfam:Reprolysin_2 219 383 1.1e-9 PFAM
Pfam:Reprolysin_3 223 346 9.5e-14 PFAM
DISIN 410 485 8.79e-30 SMART
ACR 486 623 3.51e-58 SMART
transmembrane domain 667 689 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is specifically expressed in epididymis where the encoded protein is transferred to the sperm surface during epididymal transit. This gene is located adjacent to a related gene from the ADAM family of proteins on chromosome 14. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility with decreased cell height in caput epididymis, spermatic granuloma, kinked sperm flagellum and reduced sperm motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,115,900 (GRCm39) I118V probably null Het
Abcc9 A G 6: 142,628,658 (GRCm39) L362P probably damaging Het
Adgre4 T C 17: 56,092,094 (GRCm39) I118T probably benign Het
Akap9 T C 5: 4,114,597 (GRCm39) L3292P Het
Akr1b10 A G 6: 34,373,561 (GRCm39) E308G possibly damaging Het
Aopep A G 13: 63,208,852 (GRCm39) Y323C probably benign Het
Ash1l T C 3: 88,914,671 (GRCm39) V1767A probably benign Het
Bpifb3 C A 2: 153,767,810 (GRCm39) N294K probably benign Het
Bpifb5 A G 2: 154,070,096 (GRCm39) N182S probably benign Het
C9orf72 A G 4: 35,192,964 (GRCm39) I455T unknown Het
Camkmt A G 17: 85,709,912 (GRCm39) I205M possibly damaging Het
Ccdc88b C T 19: 6,826,442 (GRCm39) R1091Q probably benign Het
Cfap58 A T 19: 48,015,157 (GRCm39) probably null Het
Clca3a1 T A 3: 144,733,143 (GRCm39) I122L probably benign Het
Col6a3 T A 1: 90,707,066 (GRCm39) S2623C unknown Het
Cpne5 A G 17: 29,379,332 (GRCm39) S484P probably damaging Het
Cyp4f39 T A 17: 32,705,965 (GRCm39) L352Q probably damaging Het
Dcun1d1 T C 3: 35,951,998 (GRCm39) N183D probably benign Het
Dgkg A G 16: 22,419,338 (GRCm39) V54A probably benign Het
Dnah12 T A 14: 26,443,275 (GRCm39) D561E probably benign Het
Dnah6 A C 6: 73,119,275 (GRCm39) L1536R probably damaging Het
Gm21834 G A 17: 58,048,826 (GRCm39) T130I possibly damaging Het
Hectd4 T A 5: 121,451,955 (GRCm39) V434E possibly damaging Het
Htr3a C A 9: 48,811,087 (GRCm39) V459L probably damaging Het
Lonp2 T C 8: 87,435,735 (GRCm39) V657A probably benign Het
Mdfi C A 17: 48,135,479 (GRCm39) V84L probably damaging Het
Mdm1 C T 10: 117,982,605 (GRCm39) T80M probably benign Het
Muc5ac A C 7: 141,362,712 (GRCm39) I2008L unknown Het
Nomo1 A G 7: 45,715,597 (GRCm39) D681G probably benign Het
Or10g9 G T 9: 39,911,919 (GRCm39) N201K possibly damaging Het
Or14j6 G A 17: 38,214,764 (GRCm39) W109* probably null Het
Or1af1 C G 2: 37,109,959 (GRCm39) H153D probably damaging Het
Or1p1c A G 11: 74,161,115 (GRCm39) K300R possibly damaging Het
Or5h25 T G 16: 58,930,763 (GRCm39) D70A probably damaging Het
Or5m5 A G 2: 85,814,235 (GRCm39) E17G possibly damaging Het
Or7e169 T C 9: 19,757,045 (GRCm39) Y290C probably damaging Het
Pip5k1c C A 10: 81,152,710 (GRCm39) probably benign Het
Pipox A G 11: 77,772,380 (GRCm39) I330T probably damaging Het
Pira13 T A 7: 3,819,890 (GRCm39) T676S unknown Het
Pld3 C T 7: 27,235,293 (GRCm39) V312M possibly damaging Het
Pnisr T A 4: 21,854,391 (GRCm39) W12R unknown Het
Polr3e A G 7: 120,538,462 (GRCm39) K410R probably benign Het
Ppif G T 14: 25,694,836 (GRCm39) V61L possibly damaging Het
Pramel5 T C 4: 144,000,486 (GRCm39) N30S probably benign Het
Prex2 T G 1: 11,256,130 (GRCm39) L1167R probably damaging Het
Prkacb A T 3: 146,461,518 (GRCm39) probably benign Het
Prl3a1 T A 13: 27,460,167 (GRCm39) L217H probably damaging Het
Prop1 G C 11: 50,842,948 (GRCm39) Q80E probably damaging Het
Psma1 T C 7: 113,865,764 (GRCm39) I214V probably benign Het
Ptgfr T A 3: 151,541,404 (GRCm39) I35F probably benign Het
Rcvrn A T 11: 67,586,568 (GRCm39) Y109F probably benign Het
Repin1 A G 6: 48,574,646 (GRCm39) D525G possibly damaging Het
Slc12a2 A T 18: 58,054,863 (GRCm39) R835* probably null Het
Sqle T C 15: 59,189,711 (GRCm39) F118L probably benign Het
Stard9 A T 2: 120,510,418 (GRCm39) Y333F probably benign Het
Tbc1d16 G A 11: 119,100,090 (GRCm39) R95C probably damaging Het
Tln1 C A 4: 43,549,786 (GRCm39) E542* probably null Het
Tmem161b G T 13: 84,442,754 (GRCm39) A407S probably benign Het
Tnc G T 4: 63,918,247 (GRCm39) D1221E possibly damaging Het
Tnks T C 8: 35,308,932 (GRCm39) K1109R probably damaging Het
Tpp2 T C 1: 43,992,502 (GRCm39) V194A possibly damaging Het
Ust G A 10: 8,183,218 (GRCm39) Q162* probably null Het
Utp15 T C 13: 98,395,778 (GRCm39) Y68C probably damaging Het
Vcan A T 13: 89,826,224 (GRCm39) H3193Q probably damaging Het
Vmn2r55 T C 7: 12,418,908 (GRCm39) Y4C probably damaging Het
Other mutations in Adam7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Adam7 APN 14 68,759,387 (GRCm39) missense possibly damaging 0.68
IGL01418:Adam7 APN 14 68,762,655 (GRCm39) missense probably benign
IGL01934:Adam7 APN 14 68,770,048 (GRCm39) missense probably damaging 1.00
IGL02655:Adam7 APN 14 68,754,060 (GRCm39) missense probably damaging 1.00
IGL02669:Adam7 APN 14 68,745,343 (GRCm39) missense probably damaging 1.00
PIT4445001:Adam7 UTSW 14 68,747,197 (GRCm39) missense possibly damaging 0.88
R0195:Adam7 UTSW 14 68,765,076 (GRCm39) splice site probably benign
R0277:Adam7 UTSW 14 68,748,306 (GRCm39) splice site probably null
R0362:Adam7 UTSW 14 68,747,105 (GRCm39) splice site probably benign
R0440:Adam7 UTSW 14 68,748,305 (GRCm39) splice site probably null
R0927:Adam7 UTSW 14 68,754,133 (GRCm39) missense probably damaging 1.00
R1172:Adam7 UTSW 14 68,752,370 (GRCm39) missense probably damaging 1.00
R1270:Adam7 UTSW 14 68,765,118 (GRCm39) missense probably damaging 0.98
R1299:Adam7 UTSW 14 68,763,748 (GRCm39) splice site probably benign
R1527:Adam7 UTSW 14 68,738,970 (GRCm39) missense probably benign 0.04
R1543:Adam7 UTSW 14 68,759,371 (GRCm39) splice site probably benign
R1731:Adam7 UTSW 14 68,762,805 (GRCm39) missense probably damaging 1.00
R1732:Adam7 UTSW 14 68,735,899 (GRCm39) missense probably benign 0.00
R1921:Adam7 UTSW 14 68,750,074 (GRCm39) missense possibly damaging 0.55
R2062:Adam7 UTSW 14 68,742,610 (GRCm39) missense probably benign 0.09
R2156:Adam7 UTSW 14 68,748,792 (GRCm39) missense probably benign 0.02
R2353:Adam7 UTSW 14 68,742,537 (GRCm39) missense probably benign 0.01
R2697:Adam7 UTSW 14 68,752,232 (GRCm39) nonsense probably null
R4080:Adam7 UTSW 14 68,757,988 (GRCm39) missense probably benign 0.05
R4775:Adam7 UTSW 14 68,745,361 (GRCm39) missense probably benign 0.41
R5202:Adam7 UTSW 14 68,745,305 (GRCm39) missense possibly damaging 0.92
R6006:Adam7 UTSW 14 68,748,845 (GRCm39) missense probably damaging 1.00
R6087:Adam7 UTSW 14 68,748,206 (GRCm39) missense probably damaging 1.00
R6376:Adam7 UTSW 14 68,742,546 (GRCm39) missense possibly damaging 0.78
R6417:Adam7 UTSW 14 68,742,070 (GRCm39) missense probably benign 0.37
R6672:Adam7 UTSW 14 68,742,151 (GRCm39) critical splice acceptor site probably null
R6756:Adam7 UTSW 14 68,762,728 (GRCm39) missense probably benign 0.00
R6777:Adam7 UTSW 14 68,762,784 (GRCm39) missense probably damaging 1.00
R6913:Adam7 UTSW 14 68,771,100 (GRCm39) missense probably benign 0.22
R7127:Adam7 UTSW 14 68,752,218 (GRCm39) critical splice donor site probably null
R7209:Adam7 UTSW 14 68,767,268 (GRCm39) missense probably damaging 1.00
R7399:Adam7 UTSW 14 68,741,915 (GRCm39) splice site probably null
R7675:Adam7 UTSW 14 68,737,302 (GRCm39) missense probably benign 0.07
R7788:Adam7 UTSW 14 68,750,094 (GRCm39) missense possibly damaging 0.62
R7868:Adam7 UTSW 14 68,770,090 (GRCm39) missense possibly damaging 0.84
R8135:Adam7 UTSW 14 68,754,022 (GRCm39) missense probably damaging 1.00
R8281:Adam7 UTSW 14 68,745,334 (GRCm39) missense possibly damaging 0.65
R8507:Adam7 UTSW 14 68,763,773 (GRCm39) missense probably damaging 1.00
R9240:Adam7 UTSW 14 68,747,208 (GRCm39) missense probably benign 0.02
R9429:Adam7 UTSW 14 68,771,080 (GRCm39) missense probably null
R9744:Adam7 UTSW 14 68,742,583 (GRCm39) missense probably benign 0.00
Z1176:Adam7 UTSW 14 68,765,150 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TTCCTCCCAAATGATAAGGAAGAC -3'
(R):5'- TTCCACAGGGGTTTCTTCAGG -3'

Sequencing Primer
(F):5'- GGATATGGCAAATTTCCCTTTTCCAG -3'
(R):5'- GGTGAATGACCAGCGGTATCTC -3'
Posted On 2021-11-19